148 results on '"Corinne Collet"'
Search Results
52. Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: a 3D comparative study
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Amerigo Giudice, E. Galliani, Eric Arnaud, Raphaël Cornette, Arnaud Picard, G. Paternoster, Corinne Collet, Laurence Legeai-Mallet, Roman Hossein Khonsari, A. Morice, Institut de Systématique, Evolution, Biodiversité (ISYEB ), Muséum national d'Histoire naturelle (MNHN)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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musculoskeletal diseases ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Histology ,Physiology ,Symphysis ,Endocrinology, Diabetes and Metabolism ,[SDV]Life Sciences [q-bio] ,030209 endocrinology & metabolism ,Mandible ,Craniosynostoses ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,stomatognathic system ,Cranial vault ,medicine ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Crouzonodermoskeletal syndrome ,Receptor, Fibroblast Growth Factor, Type 2 ,Craniofacial ,ComputingMilieux_MISCELLANEOUS ,Orthodontics ,business.industry ,Craniofacial Dysostosis ,Infant ,Crouzon syndrome ,Syndrome ,Acrocephalosyndactylia ,medicine.disease ,stomatognathic diseases ,030104 developmental biology ,medicine.anatomical_structure ,business - Abstract
Syndromic craniosynostoses are defined by the premature fusion of one or more cranial and facial sutures, leading to skull vault deformation, and midfacial retrusion. More recently, mandibular shape modifications have been described in FGFR-related craniosynostoses, which represent almost 75 % of the syndromic craniosynostoses. Here, further characterisation of the mandibular phenotype in FGFR-related craniosynostoses is provided in order to confirm mandibular shape modifications, as this could contribute to a better understanding of the involvement of the FGFR pathway in craniofacial development. The aim of our study was to analyse early mandibular morphology in a cohort of patients with FGFR2- (Crouzon and Apert) and FGFR3- (Muenke and Crouzonodermoskeletal) related syndromic craniosynostoses. We used a comparative geometric morphometric approach based on 3D imaging. Thirty-one anatomical landmarks and eleven curves with sliding semi-landmarks were defined to model the shape of the mandible. In total, 40 patients (12 with Crouzon, 12 with Apert, 12 with Muenke and 4 with Crouzonodermoskeletal syndromes) and 40 age and sex-matched controls were included (mean age: 13.7 months ± 11.9). Mandibular shape differed significantly between controls and each patient group based on geometric morphometrics. Mandibular shape in FGFR2-craniosynostoses was characterized by open gonial angle, short ramus height, and high and prominent symphysis. Short ramus height appeared more pronounced in Apert than in Crouzon syndrome. Additionally, narrow inter-condylar and inter-gonial distances were observed in Crouzon syndrome. Mandibular shape in FGFR3-craniosynostoses was characterized by high and prominent symphysis and narrow inter-gonial distance. In addition, narrow condylar processes affected patients with Crouzonodermoskeletal syndrome. Statistical analysis of variance showed significant clustering of Apert and Crouzon, Crouzon and Muenke, and Apert and Muenke patients (p Our results confirm distinct mandibular shapes at early ages in FGFR2- (Crouzon and Apert syndromes) and FGFR3-related syndromic craniosynostoses (Muenke and Crouzonodermoskeletal syndromes) and reinforce the hypothesis of genotype-phenotype correspondence concerning mandibular morphology.
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- 2020
53. Genetic bases of craniosynostoses: An update
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Patrick Edery, Elise Schaefer, F. Di Rocco, T. Armand, Massimiliano Rossi, Corinne Collet, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
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Adult ,Genetic counseling ,[SDV]Life Sciences [q-bio] ,Craniosynostoses ,Biology ,Bioinformatics ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Genetic Testing ,Exome ,Whole genome sequencing ,Genetic heterogeneity ,Infant, Newborn ,Syndrome ,medicine.disease ,Penetrance ,Comorbidity ,3. Good health ,030220 oncology & carcinogenesis ,Surgery ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000 live births. Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and Saethre-Chotzen syndromes, are very well known and their molecular bases have been clarified in the 90s and early 2000s, thus showing the major role of the FGF receptors and TWIST signaling pathways in the etiology of these conditions. The recent availability of powerful molecular tools for genetic diagnosis, such as whole exome or whole genome sequencing, has led to the characterization of the molecular bases of an increasing number of CS, thus emphasizing the significant genetic heterogeneity of these conditions, and blurring the limit between SCS and NSCS. The genetic characterization of patients affected by CS leads to appropriate genetic counseling and provides relevant information concerning comorbidity and prognosis. Nevertheless, this can also lead to the detection of susceptibility factors with low penetrance whose interpretation in genetic counseling is difficult and it raises the question of its cost-effectiveness for health systems. These aspects suggest the need of a patient-tailored clear rationale for performing genetic tests. In this study, we reviewed the main molecular etiologies reported in the last 15 years of either SCS or NSCS, and we propose a systematic multidisciplinary approach as well as a diagnostic flowchart for the genetic evaluation of these patients.
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- 2019
54. IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences
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B. Guichard, E. Weber, P. Hannequin, L. Van Maldergem, Corinne Collet, Geneviève Baujat, Marion Lenoir, G. Godfrin, Elise Schaefer, Aurélien Trimouille, Christelle Cabrol, Didier Lacombe, G. Paternoster, Alice Goldenberg, Sarah Baer, and Elise Brischoux-Boucher
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Adult ,Male ,0301 basic medicine ,Joint hypermobility ,Connective Tissue Disorder ,Adolescent ,Mutation, Missense ,Genes, Recessive ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,medicine ,Humans ,Missense mutation ,Interleukin-11 Receptor alpha Subunit ,Child ,Genetics (clinical) ,Interleukin-11 receptor ,Dental anomalies ,business.industry ,Craniofacial Dysostosis ,Crouzon syndrome ,medicine.disease ,Magnetic Resonance Imaging ,Human genetics ,030104 developmental biology ,Child, Preschool ,030220 oncology & carcinogenesis ,Female ,business - Abstract
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.
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- 2018
55. 1156Coronary artery bypass grafting vs. FFR-guided PCI in diabetic patients with multivessel disease
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Jeroen Sonck, M. Vanderheyden, Danilo Franco, B. De Bruyne, J. Bartunek, M Kodeboina, N Soto Flores, Emanuele Barbato, G Di Gioia, I Colaiori, and Corinne Collet
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medicine.medical_specialty ,Ejection fraction ,business.industry ,Surrogate endpoint ,medicine.medical_treatment ,medicine.disease ,Revascularization ,Coronary artery bypass surgery ,medicine.anatomical_structure ,Internal medicine ,Diabetes mellitus ,Conventional PCI ,Cardiology ,Medicine ,cardiovascular diseases ,Myocardial infarction ,Cardiology and Cardiovascular Medicine ,business ,Artery - Abstract
Background In diabetic patients with multivessel coronary disease (MVD), coronary artery bypass grafting (CABG) has shown long-term benefits in mortality over percutaneous coronary revascularization (PCI). Nevertheless, the impact of fractional flow reserve (FFR)-guided PCI on clinical outcomes has never been investigated in these patients. Purpose To evaluate the long-term (5-year) clinical outcome of diabetic patients with MVD treated with FFR-guided PCI compared to CABG. Methods From February 2010 to February 2018, all diabetic patients undergoing coronary angiography in one centre (n=4622) were screened for inclusion. The inclusion criterion was presence of at least two-vessels CAD defined as with diameters stenosis ≥50%. In case of intermediate coronary stenosis (%DS 30–70%), FFR was performed at the discretion of the operator. Revascularization was performed when FFR ≤0.80. Exclusion criteria were ST-elevation myocardial infarction, prior CABG, and moderate or severe valvular heart dysfunction. To account for confounders, we compared outcomes by calculating an adjusted Kaplan-Meier estimator using inverse probability of treatment weighting (IPTW). Propensity score variables included age, sex, smoking habit, hypertension, hyperlipidemia, insulin therapy, family history of CAD, chronic obstructive pulmonary disease (COPD), glomerular filtration rate (GFR), prior myocardial infarction, peripheral vascular disease (PVD), admission for NSTEMI, ejection fraction, number of angiographic stenotic vessels. Odds ratios were calculated using generalized linear models (GLM). The primary endpoint was major adverse cardiovascular and cerebrovascular events (MACCE), defined as all-cause death, myocardial infarction and stroke. Secondary endpoints were the individual component of MACCE and any repeated revascularization. Results A total of 538 diabetic patients with MVD were included in the analysis. Among them, 317 (59%) patients underwent CABG and 221 (41%) FFR-guided PCI. Patients treated with FFR-guided PCI had more often COPD as compared to patients in the CABG-group, but patients treated with CABG had lower GFR, more PVD, higher number of angiographic stenotic vessels (2.8±0.4 vs. 2.5±0.5; p Clinical follow-up was obtained in 95% of the patients at a median follow-up of 5 years. The incidence of MACCE was similar in the CABG and in the FFR-guided PCI group [27% vs. 29%; OR (95% CI) 1.05 (0.68–1.63); p=0.74]. No differences were found in the individual components of MACCE. Repeat revascularization was more frequent in the FFR-guided PCI group than in the CABG group [27% vs. 7%; OR (95% CI) 4.3 (2.35–7.9); p Conclusions In diabetic patients with MVD undergoing FFR-guided PCI, no differences in major adverse events were observed at a median follow-up of 5 years compared with CABG.
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- 2019
56. 279Clinical outcome after coronary bifurcation stenting: a systematic review and network meta-Analysis of PCI bifurcation techniques comprising 5572 patients
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Takuya Mizukami, Jeroen Sonck, G Di Gioia, I Colaiori, M Kodeboina, E. Barbato, Corinne Collet, and B. De Bruyne
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medicine.medical_specialty ,business.industry ,Outcome (game theory) ,surgical procedures, operative ,Internal medicine ,Meta-analysis ,Conventional PCI ,Cardiology ,Medicine ,cardiovascular diseases ,Cardiology and Cardiovascular Medicine ,business ,Coronary bifurcation ,Bifurcation - Abstract
Background The optimal PCI technique for bifurcation lesions remains a matter of debate. Several RCT have compared different bifurcation PCI techniques. Provisional stenting has been recommended as the default technique for most bifurcation lesions. However, emerging data suggests that double-kissing crush technique can be considered in true left main bifurcation lesions and has been endorsed by the European Society of Cardiology Guidelines. Purpose To compare the clinical outcome between different bifurcation PCI techniques. Methods We searched MEDLINE for randomized clinical trials (RCT) comparing PCI bifurcation techniques for coronary bifurcation lesions. Outcomes of interest were major adverse cardiovascular events (MACE) defined as the composite of cardiac death, myocardial infarction (MI) and target vessel or lesion revascularization (TVR/TLR), and the individual components of MACE. Stent thrombosis was assessed as defined by the ARC. Stratification based on left-main or distal bifurcations was performed. We evaluated the studies' risk of bias in accordance to the Cochrane Handbook for Systematic Reviews of Interventions, and certainty of evidence using the Grading of Recommendations Assessment, Development and Evaluation framework. We estimated summary odds ratios (ORs) using pairwise and Bayesian network meta-analysis. Results We identified 263 studies and of these included 19 RCT including 5572 patients treated with 5 bifurcation PCI techniques namely provisional stenting, systematic T-stenting, crush, culotte and double-kissing crush. Median follow-up was 12 months (IQR 8 to 36). When all bifurcation lesions were combined, double-kissing crush technique reduced the occurrence of MACE (OR 0.42; CrI 0.28 to 0.61) compared to provisional stenting. This difference was driven by a reduction in TVR/TLR (OR 0.39; CrI 0.25 to 0.65). No differences were found in cardiac death, MI or stent thrombosis among analyzed PCI techniques. No differences in MACE were observed between provisional stenting, systematic T-stenting, crush. In distal bifurcations (n=17 studies, 4634 patients), double-kissing crush also showed to reduce MACE (OR 0.48; CrI 0.29 to 0.67 vs. Provisional). In left-main bifurcations (n=3 studies, 938 patients) no differences in MACE were found between PCI techniques. Conclusions In this network meta-analysis, PCI bifurcation techniques were similar with respect to the occurrence of cardiac death, myocardial infarction and stent thrombosis. When all coronary bifurcations were combined, an advantage of double-kissing crush was observed in terms of MACE driven by lower rate of repeated revascularization. Further studies are required to define the best PCI bifurcation technique for left main coronary artery disease.
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- 2019
57. Acetylcholine Modulates the Hormones of the Growth Hormone/Insulinlike Growth Factor-1 Axis During Development in Mice
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Marie-José Lecomte, Jorge Gallego, Boris Matrot, Jean-Marie Launay, Jacques Callebert, Jacques Mallet, Maud Ringot, Guilan Vodjdani, Thomas Bourgeois, Corinne Collet, Catherine Sénamaud-Beaufort, Nelina Ramanantsoa, Chloé Bertolus, Françoise Saurini, Sylvie Berrard, Jeannette Nardelli, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Stomatologie et Chirurgie Maxillo-facial [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Mécanismes adaptatifs : des organismes aux communautés (MAOAC), Muséum national d'Histoire naturelle (MNHN)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Service Biochimie et Biologie Moleculaire [AP-HP Hôpital Lariboisière] (IFR6), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Biochimie et de Biologie Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique moléculaire de la neurotransmission et des processus neurodégénératifs (LGMNPN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), AP-HP Service de Biochimie, Fondation FondaMental, U942 Hôpital Lariboisière, Institut National de la Santé et de la Recherche Médicale (INSERM), Berrard, Sylvie, Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Muséum national d'Histoire naturelle (MNHN)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière, Unité de recherche Amélioration, Génétique et Physiologie Forestières (UAGPF), Institut National de la Recherche Agronomique (INRA), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Physiologie, Faculté de Médecine de Paris-Sud, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Collège de France (CdF)-Muséum national d'Histoire naturelle (MNHN), and Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)
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0301 basic medicine ,Heterozygote ,medicine.medical_specialty ,Somatotropic cell ,[SDV]Life Sciences [q-bio] ,Hypothalamus ,Biology ,Growth Hormone-Releasing Hormone ,Choline O-Acetyltransferase ,Mice ,03 medical and health sciences ,Endocrinology ,Internal medicine ,medicine ,Animals ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Insulin-Like Growth Factor I ,ComputingMilieux_MISCELLANEOUS ,Mice, Knockout ,Growth hormone–releasing hormone ,Neurosecretory Systems ,Acetylcholine ,Ghrelin ,Growth hormone secretion ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,Somatostatin ,Gastrointestinal hormone ,Gastric Mucosa ,Growth Hormone ,Pituitary Gland ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Hormone - Abstract
Pituitary growth hormone (GH) and insulinlike growth factor (IGF)-1 are anabolic hormones whose physiological roles are particularly important during development. The activity of the GH/IGF-1 axis is controlled by complex neuroendocrine systems including two hypothalamic neuropeptides, GH-releasing hormone (GHRH) and somatostatin (SRIF), and a gastrointestinal hormone, ghrelin. The neurotransmitter acetylcholine (ACh) is involved in tuning GH secretion, and its GH-stimulatory action has mainly been shown in adults but is not clearly documented during development. ACh, together with these hormones and their receptors, is expressed before birth, and somatotroph cells are already responsive to GHRH, SRIF, and ghrelin. We thus hypothesized that ACh could contribute to the modulation of the main components of the somatotropic axis during development. In this study, we generated a choline acetyltransferase knockout mouse line and showed that heterozygous mice display a transient deficit in ACh from embryonic day 18.5 to postnatal day 10, and they recover normal ACh levels from the second postnatal week. This developmental ACh deficiency had no major impact on weight gain and cardiorespiratory status of newborn mice. Using this mouse model, we found that endogenous ACh levels determined the concentrations of circulating GH and IGF-1 at embryonic and postnatal stages. In particular, serum GH level was correlated with brain ACh content. ACh also modulated the levels of GHRH and SRIF in the hypothalamus and ghrelin in the stomach, and it affected the levels of these hormones in the circulation. This study identifies ACh as a potential regulator of the somatotropic axis during the developmental period.
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- 2018
58. Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes
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Philippe Orcel, Jean-Louis Laplanche, Thomas Funck-Brentano, Elise Schaefer, Pascale Guillot, Corinne Collet, Bertrand Isidor, Rose-Marie Javier, Giulia Tueur, Manon Ricquebourg, Marine Delecourt, Martine Cohen-Solal, and Agnès Ostertag
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0301 basic medicine ,Bone mineral ,Genetics ,Oncology ,Candidate gene ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,LRP5 ,medicine.disease ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Internal medicine ,Cohort ,PLS3 ,Medicine ,Missense mutation ,Orthopedics and Sports Medicine ,Young adult ,business ,030217 neurology & neurosurgery - Abstract
Genetic determinants contribute to osteoporosis and enhance the risk of fracture. Genomewide association studies of unselected population-based individuals or families have identified polymorphisms in several genes related to low bone density, but not in osteoporotic patients with Z-score
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- 2017
59. Bone analysis revealed high bone resorption in idiopathic osteoporosis in young adults
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Agnès Ostertag, Martine Cohen-Solal, Bastien Leger, Thomas Funck-Brentano, Corinne Collet, and Caroline Marty
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Idiopathic osteoporosis ,RC925-935 ,business.industry ,Endocrinology, Diabetes and Metabolism ,Physiology ,Medicine ,Orthopedics and Sports Medicine ,Diseases of the musculoskeletal system ,Young adult ,business ,Bone resorption - Published
- 2021
60. Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis
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Martine Cohen-Solal, Manon Ricquebourg, Thomas Funck-Brentano, Caroline Caetano, Philippe Orcel, and Corinne Collet
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Idiopathic osteoporosis ,RC925-935 ,business.industry ,Endocrinology, Diabetes and Metabolism ,Medicine ,Orthopedics and Sports Medicine ,Diseases of the musculoskeletal system ,business ,Bioinformatics ,Gene - Published
- 2021
61. A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome
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Ajlan Tükün, Corinne Collet, Pınar Kocaay, Kanay Yararbas, Merih Berberoğlu, Hatice Ilgın Ruhi, Halil Gürhan Karabulut, and Şule Altıner
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Male ,0301 basic medicine ,DNA Mutational Analysis ,030105 genetics & heredity ,Pathology and Forensic Medicine ,03 medical and health sciences ,Humans ,Medicine ,Genetic Association Studies ,Genetics (clinical) ,Genetics ,business.industry ,Twist-Related Protein 1 ,Facies ,Nuclear Proteins ,Sequence Analysis, DNA ,General Medicine ,Acrocephalosyndactylia ,medicine.disease ,Radiography ,Phenotype ,030104 developmental biology ,Child, Preschool ,Mutation ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,TWIST1 gene ,Saethre–Chotzen syndrome ,Anatomy ,business - Published
- 2017
62. Virtual Fractional Flow Reserve in Heart Transplant Recipients with and without Graft Vasculopathy
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Sakura Nagumo, Sofie Verstreken, Jeroen Sonck, Riet Dierckx, Alessandro Candreva, Emanuele Gallinoro, B. De Bruyne, M. Vanderheyden, Corinne Collet, Ward Heggermont, J. Bartunek, Takuya Mizukami, and Academic Medical Center
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Pulmonary and Respiratory Medicine ,Coronary angiography ,Heart transplantation ,Transplantation ,medicine.medical_specialty ,Ischemic cardiomyopathy ,business.industry ,medicine.medical_treatment ,Fractional flow reserve ,medicine.disease ,Revascularization ,Coronary artery disease ,Internal medicine ,medicine ,Cardiology ,cardiovascular system ,Surgery ,Cardiology and Cardiovascular Medicine ,business ,Pathological ,Coronary atherosclerosis - Abstract
PURPOSE: Cardiac graft vasculopathy (CAV) remains the Achilles' heel of long-term survival after heart transplantation (HTx). The severity and extent of CAV is graded with conventional coronary angiography(COR) which has several limitations. Recently virtual fractional flow reserve (vFFR) derived from COR has emerged as a new diagnostic computational tool to functionally evaluate the extent of coronary artery disease. The present study assessed the usefulness of vFFR to detect CAV in HTx recipients. METHODS: In HTx pts referred for annual check-up, undergoing surveillance COR and normal LV systolic function, the extent of CAV was graded according to the ISHLT guidelines. Three-dimensional coronary geometries were constructed offline and generic boundary conditions for computational fluid dynamics analysis were applied to calculate vFFR. RESULTS: In 49 HTx pts with a mean age of 53.3 ± 11.0 years, 8.6 ± 7.1 years post HTx, a total number of 171 vessels(59 LAD, 60 Cx, 52 RCA) were analyzed. Mean vFFR in all HTx pts was 0.85 ± 0.15, median 0.89 [IQR 0.80, 0.95]. HTx pts with previous history of ischemic cardiomyopathy(ICMP) had significantly lower vFFR as compared to those with non-ICMP. Use of vFFR reclassified 33% of patients compared to the anatomical ISHLT criteria. A vFFR ≤ 0.80 was present in 24 pts (42 vessels). Despite a CAV score of 0, a pathological vFFR ≤ 0.80 was detected in 6 pts (25.0 %). Finally, pts with a vFFR ≤ 0.80 had significantly higher need for revascularization (Figure 1) vs those with normal vFFR (HR 9.18, 95% CI 1.18 to 71.2, p=0.03). CONCLUSION: The impairment of coronary flow assessed by vFFR in a subgroup of pts without CAV according to standard ISHLT criteria, suggests the presence of a diffuse vasculopathy undetectable by conventional COR. Similar to coronary atherosclerosis, a pathological vFFR bears prognostic information as evidenced by a higher need for revascularization when vFFR is low. Therefore, we speculate that vFFR may be a helpfull tool in risk stratification post HTx.
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- 2020
63. Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
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Corinne Collet, Federico Di Rocco, Caroline Apra, Eric Arnaud, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Sorbonne Universités, and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)
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musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,lcsh:QH426-470 ,[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,craniostenosis ,craniofacial syndrome ,medicine.disease_cause ,Craniosynostosis ,cavum septum pellucidum ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,FGFR2 ,030304 developmental biology ,0303 health sciences ,Mutation ,business.industry ,General Medicine ,medicine.disease ,Phenotype ,3. Good health ,Hydrocephalus ,lcsh:Genetics ,medicine.anatomical_structure ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Fibroblast growth factor receptor ,intellectual disability ,030220 oncology & carcinogenesis ,Pfeiffer syndrome ,business ,hydrocephalus ,Cavum septum pellucidum ,Tyrosine kinase - Abstract
Mutations in Fibroblast Growth Factor Receptor II (FGFR2) have been identified in patients with Crouzon and Pfeiffer syndrome, among which rare mutations of the intracellular tyrosine kinase domain. Correlating subtle phenotypes with each rare mutation is still in progress. In Necker-Enfants Malades Hospital, we identified three patients harboring three different pathogenic variants of the same amino acid residue Asn-549 located in this domain: in addition to a very typical crouzonoid appearance, they all developed clinically relevant hydrocephalus, which is an inconstant feature of Crouzon and Pfeiffer syndrome. Overall, FGFR2 tyrosine kinase domain mutations account for 5/67 (7.4%) cases in our hospital. We describe a novel mutation, p.Asn549Ser, and new cases of p.Asn549His and p.Asn549Thr mutations, each reported once before. Our three cases of Asn-549 mutations, alongside with rare previously reported cases, show that these patients are at higher risk of hydrocephalus. Clinical and imaging follow-up, with possible early surgery, may help prevent secondary intellectual disability.
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- 2016
64. Author response for 'Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review'
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Sabine Baron, Caroline Michot, Massimiliano Rossi, Varoona Bizaoui, Elise Schaefer, David Geneviève, Valérie Cormier-Daire, Anne Dieux, Yline Capri, Geneviève Baujat, Cyril Amouroux, Bertrand Isidor, Martine Cohen-Solal, Corinne Collet, Sophie Monnot, and Anya Rothenbuhler
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Natural history ,History ,Pycnodysostosis ,medicine ,medicine.disease ,Genealogy - Published
- 2019
65. Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report
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Michel Fischbach, Sarah Baer, Elise Schaefer, Martin Castelle, Matthieu Bendavid, Caroline Michot, Guillaume Morelle, Despina Moshous, and Corinne Collet
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Genetics ,Base Sequence ,business.industry ,Genetic Diseases, Inborn ,Autosomal Recessive Osteopetrosis ,Genes, Recessive ,Hematology ,Oncology ,Osteopetrosis ,Pediatrics, Perinatology and Child Health ,Medicine ,Humans ,Base sequence ,Female ,business ,Child ,Gene ,Sorting Nexins ,Sequence Deletion - Published
- 2019
66. Diagnostic d’une ostéocondensation diffuse
- Author
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Martine Cohen-Solal, Corinne Collet, Stéphanie Fabre, Thomas Funck-Brentano, Université Paris Diderot - Paris 7 (UPD7), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), and Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
2. Zero hunger ,030203 arthritis & rheumatology ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,[SDV]Life Sciences [q-bio] ,030212 general & internal medicine - Abstract
Resume Les osteocondensations sont des maladies osseuses constitutionnelles de grande diversite genetique caracterisees par une augmentation de la densite osseuse. La decouverte recente de nouveaux genes a genere des nouvelles connaissances sur des fonctions des cellules osseuses et a favorise l’emergence d’une classification fondee sur la biologie des osteoclastes et des osteoblastes. L’augmentation de la densite peut etre liee a un defaut de resorption osseuse ou une augmentation de la formation osseuse. La classification des osteocondensations fait appel a plusieurs criteres qui correspondent a differentes voies d’approche diagnostique : contexte familial et mode de transmission et surtout la localisation des atteintes osseuses touchant toutes les pieces osseuses ou seulement le crâne ou les os longs. Les anomalies osteoclastiques affectent l’ensemble du squelette et s’associent a des fractures alors que les anomalies osteoblastiques touchent le squelette cranio-tubulaire et s’accompagnent rarement de fractures. Les taux seriques des nouveaux marqueurs biochimiques du remodelage osseux comme les TRAP5b et la sclerostine contribuent a orienter l’identification du type d’osteocondensation. Il n’y a pas de traitement specifique des maladies osteocondensantes. La prise en charge doit porter sur la prevention puis sur la correction locale des atteintes auditives, ophtalmologiques et dentaires.
- Published
- 2019
67. Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature
- Author
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Sébastien Barbarot, Juliette Mazereeuw-Hautier, Bertrand Isidor, Louise Muguet Guenot, Emmanuelle Bourrat, Corinne Collet, Marie Denis Musquer, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique, Hélène Aubert, Annick Toutain, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Tours (CHRU de Tours), CHU Toulouse [Toulouse], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hopital Saint-Louis [AP-HP] (AP-HP), Department of Pathology, Physiopathologie des Adaptations Nutritionnelles (PhAN), and Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA)
- Subjects
Seborrheic keratosis ,Adult ,Male ,medicine.medical_specialty ,Genotype ,Limb Deformities, Congenital ,Hypochondroplasia ,Dwarfism ,Dermatology ,Bone and Bones ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Skin fold ,pigmentary disorders ,medicine ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Acanthosis Nigricans ,Child ,Acanthosis nigricans ,Genetic Association Studies ,Skin ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,integumentary system ,business.industry ,medicine.disease ,3. Good health ,genodermatoses ,medicine.anatomical_structure ,Phenotype ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Mutation ,Lordosis ,Abdomen ,Female ,Skin lesion ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology - Abstract
International audience; Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to the eight patients previously described in the literature. In these patients, the AN lesions began in childhood, and they were extensive. These lesions were located on the torso, the abdomen, and the face, in addition to the typical skin fold sites. Other skin lesions were frequently reported: café-au-lait macules, melanocytic nevi, lentigines, and seborrheic keratosis. The Lys650Thr mutation was the predominant reported mutation of FGFR3.
- Published
- 2019
68. Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature
- Author
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Fabienne Perez, Anne-Sophie Delemazure, Corinne Collet, Leila Ghesh, Pierre Corre, Marie Vincent, Julie Boyer, Bertrand Isidor, David Geneviève, Jean-Louis Laplanche, Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Chirurgie maxillo-faciale et stomatologie, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Lariboisière-Fernand-Widal [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
- Subjects
0301 basic medicine ,[SDV]Life Sciences [q-bio] ,Genes, Recessive ,030105 genetics & heredity ,Biology ,Treacher Collins syndrome ,03 medical and health sciences ,Genetics ,medicine ,Humans ,POLR1C ,Gene ,Genetics (clinical) ,Autosomal recessive inheritance ,fungi ,Inheritance (genetic algorithm) ,autosomal recessive ,DNA-Directed RNA Polymerases ,Mandibulofacial dysostosis ,medicine.disease ,Magnetic Resonance Imaging ,3. Good health ,030104 developmental biology ,Child, Preschool ,Mutation ,Female ,Mandibulofacial Dysostosis - Abstract
International audience; Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis.To date, TCS-causing mutations in three genes, namely TCOF1, POLR1D, and POLR1Chave been identified. TCS is usually inherited in an autosomal dominant manner, witha high clinical variability and no phenotype–genotype correlation. Up-to now, fivefamilies have been reported with an autosomal recessive mode of inheritance due tomutations in POLR1D or POLR1C. We report here a new family with two sistersaffected by mild TCS carrying compound POLR1C heterozygous mutations, andreview the literature on mild forms of TCS, autosomal recessive inheritance in thissyndrome and POLR1C mutations.
- Published
- 2019
69. Inflammatory Potential of Four Different Phases of Calcium Pyrophosphate Relies on NF-kB Activation and MAPK Pathways
- Author
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Laure Campillo-Gimenez, Félix Renaudin, Maud Jalabert, Pierre Gras, Marjolaine Gosset, Christian Rey, Stéphanie Sarda, Corinne Collet, Martine Cohen-Solal, Christèle Combes, Frédéric Lioté, Hang-Korng Ea, Centre National de la Recherche Scientifique - CNRS (FRANCE), Institut National Polytechnique de Toulouse - INPT (FRANCE), Institut National de la Santé et de la Recherche Médicale - INSERM (FRANCE), Université de Paris Diderot - Paris 7 (FRANCE), Université Toulouse III - Paul Sabatier - UT3 (FRANCE), Assistance publique - Hôpitaux de Paris - AP-HP (FRANCE), Université Paris Descartes - Paris V (FRANCE), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre interuniversitaire de recherche et d'ingenierie des matériaux (CIRIMAT), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC), Pathologies, Imagerie et Biothérapies oro-faciales (EA 2496), Université Paris Descartes - Paris 5 (UPD5), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National Polytechnique de Toulouse - Toulouse INP (FRANCE), Université Fédérale Toulouse Midi-Pyrénées, and Hôpital Lariboisière
- Subjects
0301 basic medicine ,MAPK/ERK pathway ,THP-1 Cells ,Calcium Pyrophosphate ,[SPI.MAT]Engineering Sciences [physics]/Materials ,chemistry.chemical_compound ,0302 clinical medicine ,Immunology and Allergy ,MAP kinase signaling ,Cells, Cultured ,Original Research ,Mice, Knockout ,CPP crystals, microcrystal-induced arthritis, IL-1beta, MAP kinase signaling, NF-kB pathway, macrophages, NLRP3 inflammasome ,Kinase ,NF-kappa B ,Calcium pyrophosphate ,Inflammasome ,3. Good health ,macrophages ,IL-1β ,Cytokines ,Inflammation Mediators ,Crystallization ,medicine.drug ,lcsh:Immunologic diseases. Allergy ,MAP Kinase Signaling System ,p38 mitogen-activated protein kinases ,Matériaux ,Immunology ,[SDV.BC]Life Sciences [q-bio]/Cellular Biology ,NF-kB pathway ,Cell Line ,03 medical and health sciences ,In vivo ,microcrystal-induced arthritis ,medicine ,Animals ,Humans ,Protein kinase A ,Inflammation ,030203 arthritis & rheumatology ,NF-κB pathway ,CPP crystals ,IL-1beta ,Molecular biology ,In vitro ,NLRP3 inflammasome ,Mice, Inbred C57BL ,030104 developmental biology ,chemistry ,Biologie cellulaire ,lcsh:RC581-607 - Abstract
International audience; Background: Calcium pyrophosphate (CPP) microcrystal deposition is associated with wide clinical phenotypes, including acute and chronic arthritis, that are interleukin 1b (IL-1b)-driven. Two CPP microcrystals, namely monoclinic and triclinic CPP dihydrates (m- and t-CPPD), have been identified in human tissues in different proportions according to clinical features. m-CPP tetrahydrate beta (m-CPPTb) and amorphous CPP (a-CPP) phases are considered as m- and t-CPPD crystal precursors in vitro.Objectives: We aimed to decipher the inflammatory properties of the three crystalline phases and one amorphous CPP phase and the intracellular pathways involved.Methods: The four synthesized CPP phases and monosodium urate crystals (MSU, as a control) were used in vitro to stimulate the human monocytic leukemia THP-1 cell line or bone marrow-derived macrophages (BMDM) isolated from WT or NLRP3 KO mice. The gene expression of pro- and anti-inflammatory cytokines was evaluated by quantitative PCR; IL-1b, IL-6 and IL-8 production by ELISA; and mitogen-activated protein kinase (MAPK) activation by immunoblot analysis. NF-kB activation was determined in THP-1 cells containing a reporter plasmid. In vivo, the inflammatory potential of CPP phases was assessed with the murine air pouch model via cell analysis and production of IL-1b and CXCL1 in the exudate. The role of NF-kB was determined by a pharmacological approach, both in vivo and in vitro.Results: In vitro, IL-1b production induced by m- and t-CPPD and m-CPPTb crystals was NLRP3 inflammasome dependent. m-CPPD crystals were the most inflammatory by inducing a faster and higher production and gene expression of IL-1b, IL-6, and IL-8 than t-CPPD, m-CPPTb and MSU crystals. The a-CPP phase did not show an inflammatory property. Accordingly, m-CPPD crystals led to stronger activation of NF-kB, p38, extracellular signal-regulated kinase 1/2 (ERK1/2) and c-Jun N-terminal kinase (JNK) MAPKs. Inhibition of NF-kB completely abrogated IL-1b and IL-8 synthesis and secretion induced by all CPP crystals. Also, inhibition of JNK and ERK1/2 MAPKs decreased both IL-1b secretion and NF-kB activation induced by CPP crystals. In vivo, IL-1b and CXCL1 production and neutrophil infiltration induced by m-CPPD crystals were greatly decreased by NF-kB inhibitor treatment.Conclusion: Our results suggest that the inflammatory potential of different CPP crystals relies on their ability to activate the MAPK-dependent NF-kB pathway. Studies are ongoing to investigate the underlying mechanisms.
- Published
- 2018
70. A new LRP6 variant and Camurati-Engelmann-like disease
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Corinne Collet, Marie-Eva Pickering, Elodie Feurer, Aicha Ltaief-Boudrigua, and Roland Chapurlat
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0301 basic medicine ,Hyperostosis ,Pathology ,medicine.medical_specialty ,Histology ,Physiology ,Endocrinology, Diabetes and Metabolism ,Mutation, Missense ,Pain ,030209 endocrinology & metabolism ,Disease ,Bone and Bones ,03 medical and health sciences ,Osteosclerosis ,0302 clinical medicine ,Humans ,Medicine ,Missense mutation ,Pathological ,business.industry ,LRP6 ,Camurati-Engelmann Syndrome ,medicine.disease ,030104 developmental biology ,Dysplasia ,Low Density Lipoprotein Receptor-Related Protein-6 ,Mutation ,Mutation (genetic algorithm) ,Female ,business - Abstract
Introduction Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGFβ1 gene. Case report A young woman was hospitalized with intense pain in lower limbs, associated to radiographic hyperostosis and sclerosis of the long bones. Results Mutation on LRP6 has recently been associated to high bone mass. In this case report, a rare missense variant on LRP6 gene was associated to radiographic features of Camurati-Engelmann. Conclusions More studies should be conducted to assess the pathological role of this variant in Camurati-Engelmann-like disease.
- Published
- 2021
71. Early onset idiopathic osteoporosis: digenism of wnt signaling pathway
- Author
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Martine Cohen Solal, Thomas Funck Brentano, Corinne Collet, Philippe Orcel, Manon Ricquebourg, Stéphanie Fabre, and Carollne Caetano
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Idiopathic osteoporosis ,lcsh:Diseases of the musculoskeletal system ,business.industry ,Endocrinology, Diabetes and Metabolism ,Cancer research ,Wnt signaling pathway ,Medicine ,Orthopedics and Sports Medicine ,lcsh:RC925-935 ,business ,Early onset - Published
- 2020
72. Serotonin Is Involved in Autoimmune Arthritis through Th17 Immunity and Bone Resorption
- Author
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Jacques Callebert, Michelangelo Corcelli, Rachel Rignault, Hilène Lin, Yasmine Chabbi-Achengli, Corinne Collet, Tereza Coman, Michel Dy, Marie-Christine de Vernejoul, and Francine Côté
- Subjects
0301 basic medicine ,Serotonin ,medicine.medical_specialty ,Arthritis ,Inflammation ,medicine.disease_cause ,T-Lymphocytes, Regulatory ,Bone resorption ,Autoimmune Diseases ,Pathology and Forensic Medicine ,Autoimmunity ,03 medical and health sciences ,0302 clinical medicine ,Osteoclast ,Internal medicine ,medicine ,Animals ,Bone Resorption ,Mice, Knockout ,TPH1 ,business.industry ,Cell Differentiation ,medicine.disease ,Arthritis, Experimental ,Disease Models, Animal ,030104 developmental biology ,medicine.anatomical_structure ,Endocrinology ,Rheumatoid arthritis ,Immunology ,Th17 Cells ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Rheumatoid arthritis is a chronic disease that results in a disabling and painful condition as it progresses to destruction of the articular cartilage and ankylosis of the joints. Although the cause of the disease is still unknown, evidence argues that autoimmunity plays an important part. There are increasing but contradictory views regarding serotonin being associated with activation of immunoinflammatory pathways and the onset of autoimmune reactions. We studied serotonin's involvement during collagen-induced arthritis in wild-type and Tph1(-/-) mice, which have markedly reduced peripheral serotonin levels. In wild-type mice, induction of arthritis triggered a robust increase in serotonin content in the paws combined with less inflammation. In Tph1(-/-) mice with arthritis, a marked increase in the clinical and pathologic arthritis scores was noticed. Specifically, in Tph1(-/-) mice with arthritis, a significant increase in osteoclast differentiation and bone resorption was observed with an increase in IL-17 levels in the paws and in Th17 lymphocytes in the draining lymph nodes, whereas T-regulatory cells were dampened. Ex vivo serotonin and agonists of the 5-HT2A and 5-HT2B receptors restored IL-17 secretion from splenocytes and Th17 cell differentiation in Tph1(-/-) mice. These findings indicate that serotonin plays a fundamental role in arthritis through the regulation of the Th17/T-regulatory cell balance and osteoclastogenesis.
- Published
- 2016
73. A new case of bent bone dysplasia-FGFR2 type and review of the literature
- Author
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Anne Dieux-Coeslier, Florence Petit, Corinne Collet, Elodie Clouqueur, and Morgane Stichelbout
- Subjects
0301 basic medicine ,Bone Diseases, Developmental ,business.industry ,BENT BONE DYSPLASIA SYNDROME ,Anatomy ,Raine syndrome ,030105 genetics & heredity ,medicine.disease ,Bone and Bones ,Ultrasonography, Prenatal ,03 medical and health sciences ,Phenotype ,Amino Acid Substitution ,Bent bone dysplasia ,Mutation ,Genetics ,Humans ,Medicine ,Female ,Receptor, Fibroblast Growth Factor, Type 2 ,Codon ,business ,Alleles ,Genetics (clinical) - Published
- 2015
74. Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions
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E. Vignot, Roland Chapurlat, Elisabeth Fontanges, Blandine Merle, Corinne Collet, and Marie Cottard
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Adult ,0301 basic medicine ,Histology ,Physiology ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Disease ,Bioinformatics ,Delayed diagnosis ,Asymptomatic ,Bone and Bones ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Genetic Testing ,Abstract Summary ,Child ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Osteopetrosis ,Camurati-Engelmann Syndrome ,medicine.disease ,Phenotype ,030104 developmental biology ,Pycnodysostosis ,medicine.symptom ,business - Abstract
Summary We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis. Introduction OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults. Genetic tests may then be useful to establish a formal diagnosis. Methods We report 3 cases of adult patients with symptomatic or asymptomatic bone sclerosing lesions for whom the clinical, radiological and biological explorations were atypical and did not allow a formal diagnosis. These unusual descriptions led to the search for genetic mutations. Results These 3 cases of limited phenotypes were associated with unknown or poorly described variants of 3 rare bone genetic diseases. Conclusions Genetic tests proved useful to establish the diagnosis and manage the condition of adults with rare bone sclerosing GD.
- Published
- 2020
75. OP0189 Identification of new and rare variants in abcg2, slc22a1 and aldh16a1 genes in crystal-proven early-onset gout
- Author
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Martine Cohen-Solal, M. Ricquebourg, P. Richette, Corinne Collet, H. Morel, Thomas Bardin, Hang-Korng Ea, Tristan Pascart, F Lioté, and J.-L. Laplanche
- Subjects
medicine.medical_specialty ,education.field_of_study ,business.industry ,Population ,Single-nucleotide polymorphism ,Genome-wide association study ,medicine.disease ,Genetic analysis ,Gout ,Minor allele frequency ,Internal medicine ,medicine ,SNP ,business ,education ,Kidney disease - Abstract
Background Early-onset or juvenile gout (EOG) without hypoxanthine-guanine phosphoribosyltransferase enzyme deficiency (HPRT, OMIM 300323) and not related to familial juvenile hyperuricemic nephropathy (UMOD, OMIM 300323) is a rare gout phenotype characterised by a first flare in adolescence or in young adulthood. While numerous genome wide association studies (GWAS) have been done in classical and late-onset gout, very few studies have been performed in EOG patients. Moreover, until now most genetic studies only assess association between pre-defined single nucleotide polymorphisms (SNP) and gout. Objectives Our aim was to identify the genetic variants of clinically confirmed EOG by screening all exons of gout-associated genes with targeted Next-Generation Sequencing (NGS) approach. Methods Twenty-six urate crystal-proven gout patients with first flare occurring before the age of 30 years were included. Gout history, comorbidities and patient characteristics were recorded. All participants provided written informed consent to genetic analysis. After DNA extraction from total blood samples, the NGS libraries were prepared with surselect QXT (Agilent) and sequencing was performed with miseq (Illumina). The multigene panel included 80 genes described in GWAS and genes involved in rare diseases such as HPRT and UMOD. Results Twenty-six patients (24 men, 20 Caucasians, 5 Asians and 1 African) with crystal-proven gout had experienced their first flare at a mean age of 22.8 years [14–29] Gout duration was 11.5 years [1–46] and clinical tophi observed in 9 patients. Mean age was 37.5 [24–69] years and mean body mass index 27.6 kg/m2 [20.1–40.7]. Ten patients were overweight, 5 had obesity, 1 hypertension, 0 diabetes mellitus, 7 dyslipidemia and 10 chronic kidney disease stages 2–4. Mean serum urate level was 527 µmol/L [270–803]. Amongst 26 affected patients, 7 had a molecular anomaly (26.9%). Six patients harboured one rare or novel variant in ABCG2 (three Caucasian patients), ALDH16A1 (two Caucasian patients) and SLC22A11 (one African patient). Two other patients (one Caucasian and one Asian) carried an association of variants in both ABCG2 and ALDH16A1. All variants had a Minor Allele Frequency (MAF) below 0.3% or were never described in public databases. All variant were considered as probably pathogenic according to in silico predictive algorithms. Interestingly, the well-known p.Gln141Lys SNP of ABCG2 was identified in 3 Asian patients (11.5%) at homozygous level. Conclusions Our finding of very rare and novel pathogenic variants in ABCG2, ALD16H1 and SLC22A11 genes provides better insights of the molecular pathogenesis in early-onset juvenile gout. However, our results also highlight the involvement of yet undetermined genes in this population. Disclosure of Interest None declared
- Published
- 2018
76. Bilambdoid and sagittal synostosis: Report of 39 cases
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Philippe Meyer, Frazer O'Brien, Nathalie Chivoret, Kim Giraudat, Federico Di Rocco, Dominique Renier, Leslie Pamphile, Eric Arnaud, and Corinne Collet
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Dolichocephaly ,complex craniosynostosis ,Population ,Chiari malformation ,Bilambdoid and sagittal synostosis ,Pediatric Neurosurgery: Original Article ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Craniofacial ,education ,education.field_of_study ,business.industry ,Crouzon syndrome ,Occiput ,papilledema ,Synostosis ,medicine.disease ,Surgery ,030104 developmental biology ,medicine.anatomical_structure ,outcome ,epidemiology ,Neurology (clinical) ,business ,surgical strategies ,030217 neurology & neurosurgery - Abstract
Background Bilambdoid and sagittal synostosis (BLSS), also called "Mercedes Benz synostosis," is a multisutural craniosynostosis that has been described as a specific entity. However, this synostotic pattern can also be found in syndromic craniostenosis. To better define this entity we reviewed our experience with bilambdoid and sagittal synostosis. Methods We searched our prospective database for cases of bilambdoid and sagittal synostosis among all types of craniosynostosis. Two groups were distinguished - patients with isolated BLSS and the group of syndromic craniostenosis for whom BLSS was observed at initial presentation. We reviewed the clinical findings, associated diseases, and their management specifically for isolated BLSS patients. Results Thirty-nine patients were diagnosed with bilambdoid and sagittal synostosis among 4250 cases of craniosynostosis treated in our department over a period of 42 years. Among them, 8 were finally diagnosed as Crouzon syndrome. Of the 31 patients identified with isolated bilambdoid and sagittal synostosis, 25 (81%) were males and 6 (19%) were females. The average age at diagnosis was 17 months. At diagnosis, 16% of the population presented with papillary edema and 58% posterior digitate impressions. Two types of craniofacial dysmorphy were observed - a pattern with narrow occiput (71% of cases) and a pattern with dolichocephaly (29% of cases). Cerebellar tonsillar herniation was the most frequently associated malformation (61% of the isolated BLSS). Surgical management evolved during the years, and several surgical techniques were used to treat patients with BLSS, including isolated biparietal vault remodeling, posterior vault remodelling, and posterior vault expansion with internal or external distraction. In some cases, a craniocervical junction decompression was also performed. The mean follow-up was 82 months (7 years). The overall mental development was within normal limits in most children, but a mental delay was found in 25%. Conclusion Bilambdoid and sagittal synostosis constitute an isolated entity in almost 80% of the cases, whereas in the remaining 20% it is part of a faciocraniosynostosis syndrome. Two phenotypes may be found. Early surgical management is indicated, and several techniques can be used in this heterogeneous population. A cerebellar tonsillar prolapse is present in a majority of cases.
- Published
- 2017
77. FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants
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Corinne Collet, F. Di Rocco, Eric Arnaud, and Caroline Apra
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0301 basic medicine ,Genetics ,Biology ,Phenotype ,RNA Splice Sites ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,RNA splicing ,Mutation (genetic algorithm) ,Craniofacial dysostosis ,030217 neurology & neurosurgery ,Genetics (clinical) - Published
- 2016
78. First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
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Mélanie Fradin, Isabelle Ract, Sylvie Odent, Corinne Collet, Pascal Guggenbuhl, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Service de Biochimie et de Biologie Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie et imagerie médicale [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de génétique clinique [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-Hôpital Sud, Service de rhumatologie, Hôpital Sud, Foie, métabolismes et cancer, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie et imagerie médicale [Rennes] = Radiology [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Service de rhumatologie [Rennes] = Rheumatology [Rennes], Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud
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Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Cranial sclerosis ,Adult male ,Osteopathia striata ,Risk Assessment ,03 medical and health sciences ,Osteosclerosis ,Klinefelter Syndrome ,Rare Diseases ,Rheumatology ,Female patient ,medicine ,Humans ,Genetic Predisposition to Disease ,Adaptor Proteins, Signal Transducing ,Klinefelter ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Tumor Suppressor Proteins ,Osteopetrosis ,AMER1 ,Anatomy ,medicine.disease ,Dermatology ,Pedigree ,Radiography ,030104 developmental biology ,Male patient ,Mutation ,Klinefelter syndrome ,business - Abstract
International audience; Osteopathia striata with cranial sclerosis is a rare X-linked disorder. It is often lethal in male patients, and is considered X-linked dominant since affected females exhibit clinical signs, although milder than males. We describe here an adult male patient, with clinical and radiological signs similar to those described in female patients. Diagnosis was confirmed by the identification of an AMER1 mutation. The presence of long bones striation and the clinical phenotype of the patient also led to the diagnosis of non-mosaic Klinefelter syndrome, probably explaining the non-lethal and even rather minor phenotype compared to the rare affected males already described.
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- 2017
79. Premier cas décrit d’un homme porteur d’un syndrome de Klinefelter et d’une ostéopathie striée avec sclérose de la base du crâne
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Isabelle Ract, Pascal Guggenbuhl, Corinne Collet, Sylvie Odent, Mélanie Fradin, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Service de Biochimie et de Biologie Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie et imagerie médicale [Rennes] = Radiology [Rennes], CHU Pontchaillou [Rennes], Service de rhumatologie [Rennes] = Rheumatology [Rennes], Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie et imagerie médicale [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de rhumatologie, Hôpital Sud, and Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
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0301 basic medicine ,Klinefelter ,03 medical and health sciences ,030104 developmental biology ,Rheumatology ,Ostéopétrose ,Ostéopathie striée ,Sclérose de la base du crâne ,AMER1 ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition ,3. Good health - Abstract
National audience; L’ostéopathie striée avec sclérose de la base du crâne est une pathologie rare liée au chromosome X. Il s’agit d’une pathologie fréquemment symptomatique chez les sujets féminins et fréquemment létale chez les sujets de sexe masculin et donc considérée comme dominante liée à l’X. Nous décrivons ici le cas d’un patient masculin adulte, présentant des signes cliniques et radiologiques similaires à ceux habituellement décrits chez les patients de sexe féminin. Le diagnostic a été confirmé par l’identification d’une mutation dans le gène AMER1. La présence d’os longs striés et le phénotype particulier du patient a également conduit au diagnostic de syndrome de Klinefelter homogène, expliquant probablement le phénotype non létal et plutôt modéré comparé aux rares patients masculins déjà rapportés.
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- 2017
80. Imbalanced angiogenesis in peripartum cardiomyopathy: diagnostic value of placenta growth factor
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Alexandre Mebazaa, Jean-Marie Launay, Najla Akrout, Said Laribi, Marie-France Seronde, Dilly O. C. Anumba, Jane-Lise Samuel, Loubina Fazal, Jamela Sarb, Matthieu Legrand, Kemi Tibazarwa, Lila Bouadma, Corinne Collet, Lydia Deschamps, Etienne Gayat, Karen Sliwa, Mattia Arrigo, Justina Motiejunaite, Philippe Manivet, Alain Cohen Solal, Malha Sadoune, Département d'Anesthésie Réanimation SMUR [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Marqueurs pronostiques et facteurs de régulations des pathologies cardiaques et vasculaires - UFC ( EA 3920) (PCVP / CARDIO), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université Paris Diderot - Paris 7 (UPD7), Service de biochimie INSERM UMR-S942, Hôpital Lariboisière-APHP, Biomarqueurs CArdioNeuroVASCulaires (BioCANVAS), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [CHU Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Bichat - Claude Bernard, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de Biochimie et de Biologie Moléculaire [AP-HP Hôpital Lariboisière] (Inserm U942), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lariboisière-Fernand-Widal [APHP], U942, Hop Lariboisiere, AP HP,Dept Biochem, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Cardiovasculaire de Lariboisiere, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departments of Applied Physics [New Haven], and Yale University [New Haven]
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Placental growth factor ,medicine.medical_specialty ,Peripartum cardiomyopathy ,Angiogenesis ,[SDV]Life Sciences [q-bio] ,030204 cardiovascular system & hematology ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Internal medicine ,Peripartum Period ,medicine ,Humans ,In patient ,030212 general & internal medicine ,Placenta Growth Factor ,ComputingMilieux_MISCELLANEOUS ,Heart Failure ,Vascular Endothelial Growth Factor Receptor-1 ,Neovascularization, Pathologic ,business.industry ,Peripartum cardiomyopathy (PPCM) ,General Medicine ,medicine.disease ,Endocrinology ,Heart failure ,Plasma concentration ,Relaxin-2 ,Female ,Cardiomyopathies ,Cardiology and Cardiovascular Medicine ,business - Abstract
Background: Concentrations of the anti-angiogenic factor soluble fms-like tyrosine kinase-1 (sFlt-1) are altered in peripartum cardiomyopathy (PPCM). In this study we investigated changes in the angiogenesis balance in PPCM. Methods and Results: Plasma concentrations of sFlt-1 and the pro-angiogenic placenta growth factor (PlGF) were determined in patients with PPCM during the post-partum phase (n=83), in healthy women at delivery (n=30), and in patients with acute heart failure (AHF; n=65). Women with cardiac failure prepartum or associated with any form of hypertension, including pre-eclampsia, were excluded. Compared with non-pregnant women, in women with AHF and PPCM, median PlGF concentrations were greater (19 [IQR 16–22] and 98 [IQR 78–126] ng/mL, respectively; P0.94. Median plasma concentrations of the anti-angiogenic factor relaxin-2 were lower in PPCM and AHF (0.3 [IQR 0.3–1.7] and 0.3 [IQR 0.3–1] ng/mL, respectively) compared with normal deliveries (1,807 [IQR 1,101–4,050] ng/mL; P
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- 2017
81. Prenatal findings in carpenter syndrome and a novel mutation inRAB23
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Christelle Denis, Annie-Laure Suc, Antoine Listrat, Annick Toutain, Corinne Collet, Nathalie Soulé, Damien Haye, Georges Haddad, and Catherine Sembely-Taveau
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Adult ,musculoskeletal diseases ,DNA Mutational Analysis ,Prenatal diagnosis ,Heart defect ,Ultrasonography, Prenatal ,Craniosynostosis ,Pregnancy ,Prenatal Diagnosis ,Genetics ,medicine ,Humans ,Four-Dimensional Computed Tomography ,Genetics (clinical) ,Fetus ,business.industry ,Skull ,Infant, Newborn ,Facies ,Cystic hygroma ,Anatomy ,Acrocephalosyndactylia ,musculoskeletal system ,medicine.disease ,Carpenter syndrome ,Alternative Splicing ,Phenotype ,rab GTP-Binding Proteins ,Mutation ,Acrocephalopolysyndactyly type II ,Female ,business - Abstract
Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape.
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- 2014
82. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
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Nadège Gigot, Valeria Capra, Annick Toutain, Alice Goldenberg, Geneviève Pierquin, Nicole Philip, Odile Boute, S. Gauthier, Mariam Tajir, Yves Sznajer, Muriel Holder-Espinasse, Loreto Martorell, Laurence Faivre, J. Piard, Jean-Benoît Courcet, Christine Francannet, Cédric Baumann, Philippe Parent, Valérie Cormier-Daire, Michael Wright, N. Didonato, Marie-Pierre Cordier, David Geneviève, Didier Bessis, Ana Berta Sousa, Laurent Pasquier, Angela F. Brady, F. Boralevi, Siham Chafai Elalaoui, André Mégarbané, Bernard Aral, Edward Blair, Christine Bodemer, Eve Puzenat, B. Demeer, M. Tardieu, Corinne Collet, V. Barlogis, C. Thauvin-Robinet, Marlène Rio, Christine Coubes, Pierre Vabres, Geneviève Baujat, J. Franques, Patrick Callier, Jean-Baptiste Rivière, María Antonia González-Enseñat, Julien Thevenon, Olga Domnica Moldovan, and A. Rodríguez
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Genetics ,medicine.medical_specialty ,business.industry ,Poikiloderma ,Consanguinity ,Baller–Gerold syndrome ,medicine.disease ,Dermatology ,3. Good health ,Hereditary sclerosing poikiloderma ,Genotype ,medicine ,business ,Rothmund–Thomson syndrome ,Genetics (clinical) ,Comparative genomic hybridization ,Porokeratosis - Abstract
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.
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- 2014
83. S3-17 SESSION 3
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J. Leikola, P. Meyer, Laurence Legeai-Mallet, Brigitte Fauroux, Vincent Couloigner, S. Haber, C. Tomat, P.A. Diner, Syril James, C. Legros, Roman Hossein Khonsari, Corinne Collet, Valérie Cormier-Daire, G. Paternoster, Mp. Morisseau-Durand, P. Guerin, Eric Arnaud, G. Baujat, V. Viot-Blanc, and Quentin Hennocq
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Obstructive sleep apnea ,medicine.medical_specialty ,Monobloc ,business.industry ,Distraction ,Physical therapy ,Medicine ,Surgery ,Session (computer science) ,business ,medicine.disease - Published
- 2019
84. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
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Valentina Quarantotti, David Geneviève, Linda Mannini, Anouck Schneider, Nicolas Sirvent, Pierre Sarda, Antonio Musio, Francesco Cucco, Jacques Puechberty, Marjolaine Willems, Lucile Pinson, Geneviève Lefort, Corinne Collet, and Thierry Frebourg
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Proband ,media_common.quotation_subject ,DNA Mutational Analysis ,Aneuploidy ,Chromosome Disorders ,Biology ,BUB1B ,medicine.disease_cause ,Consanguinity ,Genetics ,medicine ,Humans ,Girl ,Gene ,Genetics (clinical) ,media_common ,Mutation ,Mosaicism ,Facies ,Nuclear Proteins ,medicine.disease ,Pedigree ,Spindle apparatus ,Skull ,Phenotype ,medicine.anatomical_structure ,Child, Preschool ,Female ,Microtubule-Associated Proteins - Abstract
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are responsible for a subset of patients with MVA. To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to c.915-925dup11 mutation in CEP57, which predicts p.Leu309ProfsX9 and review the literature in order to facilitate genotype-phenotype correlation. Rhizomelic shortening of the upper limbs, skull anomalies with conserved head circumference, and absence of tumor development could be features suggesting a need for molecular screening of the CEP57 gene in patients with this disorder.
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- 2013
85. A case–control study of fractures in men with idiopathic osteoporosis: Fractures are associated with older age and low cortical bone density
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Agnès Ostertag, Eric Vicaut, Marie-Christine de Vernejoul, Christine Chappard, Martine Cohen-Solal, Sylvie Fernandez, and Corinne Collet
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Adult ,Male ,endocrine system ,Idiopathic osteoporosis ,Histology ,Physiology ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,Dentistry ,Bone fragility ,Bone and Bones ,Fractures, Bone ,Bone Density ,medicine ,Humans ,Tibia ,Aged ,Bone mineral ,Fragility fracture ,business.industry ,Case-control study ,Middle Aged ,medicine.disease ,medicine.anatomical_structure ,Case-Control Studies ,Cortical bone ,Tomography, X-Ray Computed ,business - Abstract
Objectives To determine biochemical, radiological and micro-architectural bone factors related to fragility fractures in idiopathic male osteoporosis (IMO) patients. IMO is a rare disorder characterized by low areal bone mineral density (aBMD) (Z-score Methods We conducted a case–control study in 31 patients with fragility fracture (IMO F +) that had occurred after the age of 40 years and 37 without fracture (IMO F–). We first compared IMO group to 40 age-matched disease-free men. We measured aBMD and bone micro-architectural indices at distal radius and tibia sites with a HR-pQCT scan (XtremeCT) using standard and extended cortical analysis. Urine and blood samples were collected in order to determine the levels of bone-turnover markers and the potential determinant of bone fragility. Models of analysis of covariance, including age, height and weight as adjustment factors, were used to compare the groups. Results Compared to their controls, IMO patients showed marked disturbance of their micro‐architectural parameters at tibia and radius affecting both trabecular and cortical parameters. IMO F + subjects were significantly older than IMO F − subjects (58 ± 8 vs. 53 ± 9 yrs, p = 0.01). BMD Z-score at the total-hip was significantly lower in IMO F + (− 1.3 ± 0.5 vs. − 0.9 ± 0.8 g/cm 2 , p = 0.01). After adjustment, trabecular micro‐architectural parameters, biochemical markers and hormonal parameters were not different in the 2 groups. At distal tibia, cortical v-BMD was significantly lower in IMO F + patients (799 ± 73 vs. 858 ± 60 mg/cm 3 , p = 0.03), while cortical thickness was not different. Conclusion Our results show that patients with IMO display a marked disturbance of trabecular and cortical bone micro-architecture, and that age and low cortical density are determinants of the fracture occurrence.
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- 2013
86. Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures
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Patrice Fardellone, Agnès Ostertag, Martine Cohen-Solal, Etienne Mornet, Thomas Funck-Brentano, Corinne Collet, and Françoise Debiais
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0301 basic medicine ,Male ,medicine.medical_specialty ,Databases, Factual ,Osteoporosis ,030209 endocrinology & metabolism ,Risk Assessment ,Collagen Type I ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,Internal medicine ,Genotype ,medicine ,Genetic predisposition ,Missense mutation ,Humans ,Genetic Predisposition to Disease ,Risk factor ,Aged ,Retrospective Studies ,Aged, 80 and over ,Academic Medical Centers ,business.industry ,Hip Fractures ,Medical record ,ALPL ,Genetic Variation ,Middle Aged ,medicine.disease ,Alkaline Phosphatase ,Prognosis ,Surgery ,Minor allele frequency ,Radiography ,030104 developmental biology ,Gene Expression Regulation ,France ,business ,Femoral Fractures ,Osteoporotic Fractures ,Follow-Up Studies - Abstract
Long-term bisphosphonates exposure is a proven risk factor for atypical femoral fractures (AFF) but several cases occur in untreated patients. The identification of other risk factors for AFF is critical for the management of osteoporosis. We here assessed the genetic factors associated with AFF regardless of the treatment.Cases were identified through ICD-10 codes in 3 academic centers. Medical records were analyzed by 2 investigators that adjudicated X-rays for typical or atypical fractures. Genetic screening for ALPL, SOX9, COL1A1 and COL1A2 variants was performed after patient's information and consent.A total of 389 cases were identified and 268 were ruled out according to the ASBMR Task Force recommendations. On the remaining 121, 14 (11.6%) were AFF. Anti-osteoporotic drugs were more frequent in the AFF group compared to the typical fracture group (35% vs 5%, P0.001) but only 4 (28.6%) patients with AFF had been exposed to bisphosphonates. Genetic analysis performed in 5 patients found one with a heterozygous mutation in COL1A2 (rs72658163, NM_000089.3:c.2123GA, p.Arg708Gln). This rare variant (Minor Allele Frequency=0.0008) causes a missense mutation that alters collagen fibrillogenesis. Eight heterozygous polymorphisms for ALPL were also found in 3 patients.Genetic screening for variants in only 4 genes and 5 patients with AFF resulted in the identification of genetic variants in 3 patients including a rare variant in COL1A2, suggesting a possible genetic susceptibility to AFF. This finding should encourage clinician to further genotype patients with AFF in a collaborative multicentric project.
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- 2016
87. rs72658163, a new heterozygous variant in COL1A2 associated with atypical femoral fracture
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Etienne Mornet, Martine Cohen-Solal, Françoise Debiais, Corinne Collet, Thomas Funck-Brentano, Patrice Fardellone, and Agnès Ostertag
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Atypical femoral fracture ,business.industry ,Medicine ,General Medicine ,Anatomy ,business - Published
- 2016
88. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
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Marie, Vincent, David, Geneviève, Agnès, Ostertag, Sandrine, Marlin, Didier, Lacombe, Dominique, Martin-Coignard, Christine, Coubes, Albert, David, Stanislas, Lyonnet, Catheline, Vilain, Anne, Dieux-Coeslier, Sylvie, Manouvrier, Bertrand, Isidor, Marie-Line, Jacquemont, Sophie, Julia, Valérie, Layet, Sophie, Naudion, Sylvie, Odent, Laurent, Pasquier, Sybille, Pelras, Nicole, Philip, Geneviève, Pierquin, Fabienne, Prieur, Nisrine, Aboussair, Tania, Attie-Bitach, Geneviève, Baujat, Patricia, Blanchet, Catherine, Blanchet, Hélène, Dollfus, Bérénice, Doray, Elise, Schaefer, Patrick, Edery, Fabienne, Giuliano, Alice, Goldenberg, Cyril, Goizet, Agnès, Guichet, Christian, Herlin, Laetitia, Lambert, Bruno, Leheup, Jelena, Martinovic, Sandra, Mercier, Cyril, Mignot, Marie-Laure, Moutard, Marie-José, Perez, Lucile, Pinson, Jacques, Puechberty, Marjolaine, Willems, Hanitra, Randrianaivo, Kateline, Szakszon, Kateline, Szaskon, Annick, Toutain, Alain, Verloes, Jacqueline, Vigneron, Elodie, Sanchez, Pierre, Sarda, Jean-Louis, Laplanche, Corinne, Collet, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut National de la Santé et de la Recherche Médicale (INSERM), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Unité de Cytogénétique et Génétique Médicale, Groupe Hospitalier du Havre-Hôpital Gustave Flaubert, Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Génétique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Génétique Humaine, Université de Liège-CHU Liège, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre [Strasbourg], Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de foetopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Groupe de recherche clinique 'déficience intellectuelle et autisme', Université Pierre et Marie Curie - Paris 6 (UPMC), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Lavoisier de Versailles (ILV), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), CHU de Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut National de la Santé et de la Recherche Médicale, Head of the Department of Medical Genetics, Service de Génétique Clinique et Université Lille 2, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut de recherche, santé, environnement et travail ( Irset ), Université d'Angers ( UA ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ), Centre de recherche en neurosciences de Lyon ( CRNL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Jacques Monod ( IJM ), Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de Génétique [Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP]-Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ) -Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Institut de génétique humaine ( IGH ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Hôpital Bretonneau-CHRU Tours, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Institut Lavoisier de Versailles ( ILV ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Centre National de la Recherche Scientifique (CNRS), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA)
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Adult ,Male ,0301 basic medicine ,Franceschetti syndrome ,medicine.medical_specialty ,Adolescent ,[SDV]Life Sciences [q-bio] ,Molecular Sequence Data ,Biology ,Treacher Collins syndrome ,Young Adult ,03 medical and health sciences ,medicine ,Humans ,Base sequence ,POLR1D ,Amino Acid Sequence ,Child ,Genetic Association Studies ,Ribonucleoprotein, U5 Small Nuclear ,Genetics (clinical) ,Sequence Deletion ,phenotype–genotype correlations ,Base Sequence ,[ SDV ] Life Sciences [q-bio] ,Nuclear Proteins ,Large series ,DNA-Directed RNA Polymerases ,Mandibulofacial dysostosis ,Middle Aged ,Peptide Elongation Factors ,Phosphoproteins ,medicine.disease ,Dermatology ,3. Good health ,Surgery ,TCOF1 ,030104 developmental biology ,Mutation ,Microcephaly ,Female ,Mandibulofacial Dysostosis - Abstract
International audience; Purpose - Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. Methods - We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. Results - We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Conclusion - Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
- Published
- 2016
89. The growth of the foramen magnum in Crouzon syndrome
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Francis Brunelle, Guillaume Coll, Christian Sainte-Rose, Laurent Selek, Eric Arnaud, Federico Di Rocco, and Corinne Collet
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Male ,Craniofacial abnormality ,Palatine Tonsil ,Statistics, Nonparametric ,Prolapse ,medicine ,Humans ,Foramen Magnum ,Receptor, Fibroblast Growth Factor, Type 2 ,Lambdoid suture ,Chiari malformation ,Foramen magnum ,business.industry ,Craniofacial Dysostosis ,Infant, Newborn ,Infant ,Crouzon syndrome ,General Medicine ,Anatomy ,medicine.disease ,Sagittal plane ,Hydrocephalus ,medicine.anatomical_structure ,Biphasic Pattern ,Case-Control Studies ,Child, Preschool ,Mutation ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Tomography, X-Ray Computed ,business - Abstract
Though the craniovertebral junction is often abnormal in children with Crouzon’s syndrome, no study had measured accurately the size of their foramen magnum (FM). We compared the FM size (area, diameters) on computed tomography examination in 21 children with a genetically confirmed Crouzon’s syndrome prior to any surgery and in 23 control children without craniofacial abnormalities. We extrapolated the growth pattern in both groups. We found a statistically significant smaller FM area (p = 0.0228), FM sagittal diameter (p = 0.0287), and FM sagittal posterior diameter (p = 0.0023) in children with Crouzon’s syndrome. No differences were detected with regard to the transversal diameter. Hydrocephalus in children with Crouzon’s syndrome was associated with a small FM area (p = 0.05), small sagittal diameter (p = 0.023), small sagittal posterior diameter (p = 0.0173), and reduced transversal diameter (p = 0.03985). No association of the aforementioned findings was found with the position of the cerebellar tonsils or the lambdoid suture functional state (open or fused). Comparable results were observed among the two genetic forms (exon 8 or 10 mutations). Concerning the growth pattern, a first phase of rapid increase and a second phase of slow increase could be recognized in all the measurements in both populations, though with some significant differences. The growth of FM follows a biphasic pattern in both Crouzon’s and control children. The sagittal diameter and the global size of the FM are mostly affected in children with Crouzon’s syndrome. The small FM, especially its posterior part, is likely to play a key role in the physiopathology of hydrocephalus.
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- 2012
90. Epidemiogenetic study of French families with Paget's disease of bone
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Thierry Thomas, Jean Morissette, Edith Gagnon, Jacques P. Brown, Jean-Marie Launay, Maurice Audran, Corinne Collet, Philippe Orcel, Laëtitia Michou, and Jean-Louis Laplanche
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Male ,Heterozygote ,medicine.medical_specialty ,DNA Mutational Analysis ,information science ,Protein Data Bank (RCSB PDB) ,Comorbidity ,Asymptomatic ,Rheumatology ,Risk Factors ,Internal medicine ,Sequestosome-1 Protein ,medicine ,Humans ,Family ,Genetic Predisposition to Disease ,Index case ,Adaptor Proteins, Signal Transducing ,Family Health ,Genetics ,Molecular Epidemiology ,Bone Density Conservation Agents ,Molecular epidemiology ,business.industry ,Haplotype ,Tobacco Use Disorder ,Middle Aged ,Osteitis Deformans ,medicine.disease ,Dupuytren Contracture ,Paget's disease of bone ,Mutation ,Mutation (genetic algorithm) ,Female ,France ,medicine.symptom ,business - Abstract
Objective To search for association with environmental factors and to determine SQSTM1/p62 mutations prevalence in French families with Paget's disease of bone (PDB). Methods Unrelated patients with a confirmed diagnosis of PDB were recruited in three Rheumatology departments and informed consent obtained. First- and second-degree relatives of each index case had a physical examination, blood taken for DNA extraction and biochemical measurements, and a whole-body bone scan. Exons 7 and 8 and exon-intron boundaries of SQSTM1/p62 (p62) gene were PCR-amplified before sequencing. Haplotype carriers of the p62 P392L mutation were determined. Comparisons between PDB patients and healthy relatives were performed. Results We investigated 18 families consisting of 83 individuals: 20 patients with known PDB, three relatives with newly-diagnosed PDB and 60 healthy relatives. Index cases and/or relatives with Dupuytren's disease were found in eight (44.4%) out of the 18 families. Forty-three percent of PDB patients were former or current tobacco users versus 18% of healthy relatives ( P = 0.02; OR = 3.37 (1.04–11.09)). Five index cases (27.8%) were carriers of SQSTM1/p62 mutations: three p62 P392L mutations, one p62 P392L / A390X double mutation and one p62 A390X mutation. The p62 P392L mutation was carried by haplotype 2 in all four index cases. Conclusion Accurate phenotypic assessment of PDB patients’ relatives allowed for diagnosing PDB in three asymptomatic relatives. There was evidence for an aggregation of Dupuytren's disease in PDB families (not associated with SQSTM1/p62 mutation), and for an association between PDB and tobacco use. Half of PDB familial forms carried a SQSTM1/p62 mutation, p62 P392L mutation being the most frequent.
- Published
- 2012
91. Unbiased plasma proteomics for novel diagnostic biomarkers in cardiovascular disease: identification of quiescin Q6 as a candidate biomarker of acutely decompensated heart failure
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Jan Wuyts, Robin Tuytten, Christian Mueller, Huw Davies, Jean-Marie Launay, Piet Moerman, Alexandre Mebazaa, Brice Lortat-Jacob, Jozef Bartunek, Griet Vanpoucke, Wouter Laroy, Koen De Cremer, Corinne Collet, Filip D'hondt, Damien Logeart, Caroline Vanhaute, Jane-Lise Samuel, Marc Vanderheyden, Grégoire Thomas, Elisabeth Verschuere, Natalie Van Landuyt, James L. Januzzi, Koen Kas, Miguel Tavares, Katleen Verleysen, Alain Cohen-Solal, and Lies Vanneste
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Male ,Proteomics ,medicine.medical_specialty ,Acute decompensated heart failure ,Aorta, Thoracic ,Disease ,Internal medicine ,Animals ,Humans ,Medicine ,Oxidoreductases Acting on Sulfur Group Donors ,Prospective Studies ,Aged ,Heart Failure ,Receiver operating characteristic ,business.industry ,Case-control study ,Middle Aged ,medicine.disease ,Brain natriuretic peptide ,Constriction ,Rats ,Biomarker (cell) ,Dyspnea ,ROC Curve ,Case-Control Studies ,Heart failure ,Cardiology ,Female ,Cardiology and Cardiovascular Medicine ,business ,Biomarkers - Abstract
Aims Biochemical marker testing has improved the evaluation and management of patients with cardiovascular diseases over the past decade. Natriuretic peptides (NPs), used in clinical practice to assess cardiac dysfunction, exhibit many limitations, however. We used an unbiased proteomics approach for the discovery of novel diagnostic plasma biomarkers of heart failure (HF). Methods and results A proteomics pipeline adapted for very low-abundant plasma proteins was applied to clinical samples from patients admitted with acute decompensated HF (ADHF). Quiescin Q6 (QSOX1), a protein involved in the formation of disulfide bridges, emerged as the best performing marker for ADHF (with an area under the receiver operator characteristic curve of 0.86, 95% confidence interval: 0.79–0.92), and novel isoforms of NPs were also identified. Diagnostic performance of QSOX1 for ADHF was confirmed in 267 prospectively collected subjects of whom 76 had ADHF. Combining QSOX1 to B-type NP (BNP) significantly improved diagnostic accuracy for ADHF by particularly improving specificity. Using thoracic aortic constriction in rats, QSOX1 was specifically induced within both left atria and ventricles at the time of HF onset. Conclusion The novel biomarker QSOX1 accurately identifies ADHF, particularly when combined with BNP. Through both clinical and experimental studies we provide lines of evidence for a link between ADHF and cardiovascular production of QSOX1.
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- 2012
92. Étude épidémiogénétique de familles françaises avec maladie osseuse de Paget
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Maurice Audran, Jacques P. Brown, Edith Gagnon, Philippe Orcel, Laëtitia Michou, Thierry Thomas, Jean Morissette, Corinne Collet, Jean-Marie Launay, and Jean-Louis Laplanche
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Rheumatology - Abstract
Resume Objectif Rechercher une association avec des facteurs environnementaux et determiner la prevalence des mutations de SQSTM1/p62 dans des familles francaises avec maladie osseuse de Paget (MOP). Methodes Des patients non apparentes avec un diagnostic confirme de MOP ont ete recrutes dans trois services de rhumatologie et un consentement eclaire a ete obtenu. Les apparentes au premier et second degre de chaque cas index ont eu un examen clinique, une prise de sang pour extraction de l’ADN et dosages biochimiques, et une scintigraphie osseuse corps entier. Les exons 7 et 8 et les jonctions exon-intron du gene SQSTM1/p62 (p62) ont ete amplifies par PCR avant sequencage. Les haplotypes porteurs de la mutation p62P392L ont ete determines. Des comparaisons entre les patients avec MOP et les apparentes sains ont ete effectuees. Resultats Nous avons investigue 18 familles totalisant 83 individus : 20 patients avec MOP connue, trois apparentes avec un diagnostic nouveau de MOP et 60 apparentes sains. Des cas index et/ou des apparentes avec la maladie de Dupuytren ont ete trouves dans huit (44,4 %) des 18 familles. Quarante-trois pour cent des patients avec MOP etaient des consommateurs de tabac actuels ou passes contre 18 % des apparentes sains (p = 0,02 ; OR = 3,37 [1,04–11,09]). Cinq cas index (27,8 %) etaient porteurs de mutations de SQSTM1/p62 : trois mutations p62P392L, une double mutation p62P392L/A390X et une mutation p62A390X. La mutation p62P392L etait portee par l’haplotype 2 chez les quatre cas index. Conclusion Un phenotypage precis des apparentes de patients avec MOP a permis de diagnostiquer la MOP chez trois apparentes asymptomatiques. Des elements en faveur d’une agregation familiale de la maladie de Dupuytren dans les familles de MOP (non associee avec les mutations de SQSTM1/p62) et d’une association entre la MOP et l’usage du tabac ont ete identifies. La moitie des formes familiales portait des mutations de SQSTM1/p62, la mutation p62P392L etant la plus frequente.
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- 2012
93. Enamel alterations in serotonin 2B receptor knockout mice
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Yassine Harichane, Catherine Vidal, Michel Goldberg, Anne Baudry, Corinne Collet, Agnès Kamoun-Goldrat, Odile Kellermann, Sasha Dimitrova-Nakov, and Arnaud Marchadier
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X-ray microtomography ,Enamel paint ,Chemistry ,Anatomy ,Amelogenesis ,Molecular biology ,Enamel rod ,stomatognathic system ,visual_art ,Knockout mouse ,visual_art.visual_art_medium ,Receptor ,Ameloblast ,General Dentistry ,5-HT receptor - Abstract
The role of the serotonin 2B receptor (5-HT(2B) R) in enamel formation and mineralization was explored in adult 5HT(2B) R knockout (KO) mice compared with wild-type (WT) mice. In the molar, quantitative data obtained by micro-computed tomography imaging showed that the overall volume of the enamel layer was firmly reduced in KO mice. Defective mineralization was ascertained by energy-dispersive X-ray microanalysis. We also observed, using scanning electron microscopy, that parazones in the KO mice included two or three helicoidally twisted rods within Hunter-Schreger bands, instead of a single rod, as found in the WT mice. Minor disturbances were also detected in the incisors of KO mice. Structural modifications, thinner enamel crystallites, and porosities observed in KO mice indicate that the 5-HT(2B) R-mediated signaling pathways as part of the enamel formation process. These data provide a basis for evaluating the role of 5-HT(2B) R in ameloblast functions. Defects observed in the mineralization and structure of enamel in KO mice highlight that the 5-HT(2B) R interferes with the mechanisms directing amelogenesis.
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- 2011
94. Implication du gène LRP5 dans l’ostéoporose idiopathique de l’adulte jeune
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Philippe Orcel, Thomas Funck-Brentano, M. Ricquebourg, M. Delecourt, M. Lenne, Agnès Ostertag, T. Guilia, S. Leandre, J.L. Laplache, Corinne Collet, and M. Cohen-Solal
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Rheumatology - Published
- 2016
95. AiDAPT: automated insulin delivery amongst pregnant women with type 1 diabetes: a multicentre randomized controlled trial – study protocol
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Tara T. M. Lee, Corinne Collett, Mei-See Man, Matt Hammond, Lee Shepstone, Sara Hartnell, Eleanor Gurnell, Caroline Byrne, Eleanor M. Scott, Robert S. Lindsay, Damian Morris, Anna Brackenridge, Anna R. Dover, Rebecca M. Reynolds, Katharine F. Hunt, David R. McCance, Katharine Barnard-Kelly, David Rankin, Julia Lawton, Laura E. Bocchino, Judy Sibayan, Craig Kollman, Malgorzata E. Wilinska, Roman Hovorka, Helen R. Murphy, and on behalf of the AiDAPT Collaborative Group
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Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Pregnant women with type 1 diabetes strive for tight glucose targets (3.5-7.8 mmol/L) to minimise the risks of obstetric and neonatal complications. Despite using diabetes technologies including continuous glucose monitoring (CGM), insulin pumps and contemporary insulin analogues, most women struggle to achieve and maintain the recommended pregnancy glucose targets. This study aims to evaluate whether the use of automated closed-loop insulin delivery improves antenatal glucose levels in pregnant women with type 1 diabetes. Methods/design A multicentre, open label, randomized, controlled trial of pregnant women with type 1 diabetes and a HbA1c of ≥48 mmol/mol (6.5%) at pregnancy confirmation and ≤ 86 mmol/mol (10%) at randomization. Participants who provide written informed consent before 13 weeks 6 days gestation will be entered into a run-in phase to collect 96 h (24 h overnight) of CGM glucose values. Eligible participants will be randomized on a 1:1 basis to CGM (Dexcom G6) with usual insulin delivery (control) or closed-loop (intervention). The closed-loop system includes a model predictive control algorithm (CamAPS FX application), hosted on an android smartphone that communicates wirelessly with the insulin pump (Dana Diabecare RS) and CGM transmitter. Research visits and device training will be provided virtually or face-to-face in conjunction with 4-weekly antenatal clinic visits where possible. Randomization will stratify for clinic site. One hundred twenty-four participants will be recruited. This takes into account 10% attrition and 10% who experience miscarriage or pregnancy loss. Analyses will be performed according to intention to treat. The primary analysis will evaluate the change in the time spent in the target glucose range (3.5-7.8 mmol/l) between the intervention and control group from 16 weeks gestation until delivery. Secondary outcomes include overnight time in target, time above target (> 7.8 mmol/l), standard CGM metrics, HbA1c and psychosocial functioning and health economic measures. Safety outcomes include the number and severity of ketoacidosis, severe hypoglycaemia and adverse device events. Discussion This will be the largest randomized controlled trial to evaluate the impact of closed-loop insulin delivery during type 1 diabetes pregnancy. Trial registration ISRCTN 56898625 Registration Date: 10 April, 2018.
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- 2022
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96. Results and limits of posterior cranial vault expansion by osteotomy and internal distractors
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Federico Di Rocco, Eric Arnaud, Tatiana Protzenko, Kim Giraudat, Kenichi Usami, and Corinne Collet
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medicine.medical_specialty ,medicine.medical_treatment ,Pediatric Neurosurgery: Original Article ,Chiari ,Osteotomy ,Craniosynostosis ,03 medical and health sciences ,posterior cranial vault ,0302 clinical medicine ,Distraction ,Cranial vault ,medicine ,Craniofacial ,Craniotomy ,Vault (organelle) ,business.industry ,medicine.disease ,humanities ,Surgery ,craniosynostosis ,skull remodeling ,030220 oncology & carcinogenesis ,outcome ,Distraction osteogenesis ,Neurology (clinical) ,Erratum ,business ,syndromic craniosynostosis ,030217 neurology & neurosurgery - Abstract
Background Expanding the posterior cranial vault has become a common procedure in the treatment of complex craniosynostosis. Several techniques are available to remodel the posterior vault. Aim of this study was to analyze the posterior vault distraction osteogenesis. Methods Between 2011 and 2014, 21 children (12 boys) were operated on for a posterior distraction of the cranial vault. The mean age was 8.6 months (minimum, 3 months; maximum, 15 years). Thirteen patients presented a craniofacial syndrome. Five had already been operated on (two anterior cranial surgery, two suboccipital decompression, and one craniotomy for sagittal synostosis). Raised intracranial pressure (ICP) was present in 6 patients. Seven patients had symptomatic cerebellar tonsils herniation (TH). Results In 17 children, 2 lateral distractors were placed, in 3 a 3rd medial distractor was placed, and in 1 child 4 distractors were implanted. Volumetric analysis based on computed tomography showed a mean increase of volume of 13.9% 117 days later. After the distraction, symptoms related to raised ICP or TH were improved in all patients, however, radiologically TH was improved at the last follow-up in 54% of the cases. Conclusion Posterior cranial vault distraction is an efficacious technique to enlarge the posterior skull vault and treat increased ICP. Moreover, it appears to be efficacious in treating TH-related symptoms.
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- 2018
97. Bone loss induced by Runx2 Over-expression in mice is blunted by osteoblastic over-expression of TIMP-1
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Marie-Christine de Vernejoul, Christophe Prouillet, Didier Merciris, Valérie Geoffroy, Caroline Marty, Corinne Collet, and Corinne Schiltz
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musculoskeletal diseases ,Aging ,medicine.medical_specialty ,Bone density ,Physiology ,Transgene ,Cellular differentiation ,Clinical Biochemistry ,Osteoclasts ,Core Binding Factor Alpha 1 Subunit ,Mice, Transgenic ,Matrix metalloproteinase ,Bone and Bones ,Bone resorption ,Mice ,stomatognathic system ,Bone Density ,Internal medicine ,medicine ,Animals ,RNA, Messenger ,Bone Resorption ,Osteoblasts ,Tissue Inhibitor of Metalloproteinase-1 ,biology ,Chemistry ,musculoskeletal, neural, and ocular physiology ,Cell Differentiation ,Osteoblast ,Cell Biology ,musculoskeletal system ,RUNX2 ,Endocrinology ,medicine.anatomical_structure ,Gene Expression Regulation ,embryonic structures ,Osteocalcin ,biology.protein ,Female ,Biomarkers - Abstract
The Runx2 gene is essential for osteoblast differentiation and function. In vivo over-expression of Runx2 in osteoblasts increases bone resorption, and blocks terminal osteoblast differentiation. Several lines of evidence suggest that osteoblastic matrix metalloproteinases (MMPs) could contribute to the increased bone resorption observed in mice over-expressing Runx2 (Runx2 mice). The goal of our study was to use a transgenic approach to find out whether the inhibition of osteoblastic MMPs can reduce the bone loss induced by the over-expression of Runx2. We analyzed the effect of the in vivo over-expression of the TIMP-1 in osteoblasts on the severe osteopenic phenotype in Runx2 mice. Females with the different genotypes (WT, Runx2, TIMP-1 and TIMP-1/Runx2) were analyzed for bone density, architecture, osteoblastic and osteoclastic activity and gene expression using qPCR. TIMP-1 over-expression reduces the bone loss in adult Runx2 mice. The prevention of the bone loss in TIMP-1/Runx2 mice was due to a combination of reduced bone resorption and sustained bone formation. We present evidence that the ability of osteoblastic cells to induce osteoclastic differentiation is lower in TIMP-1/Runx2 mice than in Runx2 mice, probably due to a reduction in the expression of RANK-L and of the Runx2 transgene. Osteoblast primary cells from TIMP-1/Runx2 mice, but not from Runx2 mice, were able to differentiate into fully mature osteoblasts producing high osteocalcin levels. In conclusion, our findings suggest that osteoblastic MMPs can affect osteoblast differentiation. Our work also indicates that osteoblastic MMPs are partly responsible for the bone loss observed in Runx2 transgenic mice.
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- 2010
98. Reduced 3-O -methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele
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Pauline Chaste, Marie-Christine Mouren, Astrid Stopin, Thomas Bourgeron, Solen Kernéis, Corinne Collet, Jean-Marie Launay, Richard Delorme, Marion Leboyer, Catalina Betancur, Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de vaccinologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de psychiatrie, Hôpital Henri Mondor-Hôpital Albert Chenevier-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Biochimie et Biologie Moleculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Faculté de Médecine, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Guellaen, Georges, and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)
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Adult ,Male ,Parents ,Proband ,Heterozygote ,Obsessive-Compulsive Disorder ,medicine.medical_specialty ,Levodopa ,Candidate gene ,Adolescent ,Anxiety ,Catechol O-Methyltransferase ,Polymorphism, Single Nucleotide ,behavioral disciplines and activities ,Article ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Polymorphism (computer science) ,Internal medicine ,mental disorders ,[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,medicine ,Humans ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,Allele ,Child ,Alleles ,Genetics (clinical) ,Genetics ,Catechol-O-methyl transferase ,business.industry ,fungi ,Middle Aged ,humanities ,030227 psychiatry ,3. Good health ,Psychiatry and Mental health ,Endocrinology ,Child, Preschool ,Endophenotype ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
International audience; The catechol-O-methyltransferase (COMT) gene is considered as a candidate gene in obsessive-compulsive disorder (OCD). Specifically, the COMT low-activity M158 allele has been suggested to be associated with OCD. However, there is no study reporting that COMT activity is decreased in OCD patients and that the decrease is mediated by the V158M polymorphism. Therefore, the purpose of our study was to assess COMT activity in OCD by measuring plasma levels of 3-O-methyl-dopa (3-OMD), which result from the methylation of levodopa by COMT, and to investigate the relationship between 3-OMD levels and the V158M polymorphism. We also examined whether 3-OMD levels represented an endophenotype, associated with the genetic liability to OCD, by assessing unaffected relatives of OCD patients. We assessed plasma 3-OMD levels in a sample of drug-free OCD probands (n = 34) and their unaffected parents (n = 63), and compared them with controls (n = 85). The COMT V158M polymorphism was genotyped in all participants. Lower plasma 3-OMD levels were found in OCD probands and their unaffected parents compared to controls. The COMT M158 allele was associated with reduced plasma 3-OMD levels in a co-dominant manner, both in OCD probands and their relatives, but not in controls. Our results suggest that COMT activity could act as a limiting factor for the production of 3-OMD in OCD patients and in their relatives. These findings further support a role of COMT in the susceptibility to OCD and provide evidence that 3-OMD levels could represent an endophenotype in OCD.
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- 2009
99. The serotonin 5‐HT2Breceptor controls bone massviaosteoblast recruitment and proliferation
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Corinne Schiltz, Valérie Geoffroy, Jean-Marie Launay, Corinne Collet, Luc Maroteaux, Marie-Christine de Vernejoul, Service de Biochimie et Biologie Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Os et articulations, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), This study was supported by grants from the 'Rhumatisme et Travail' Association, INSERM, Université René Diderot, and the European Community 6 PCRD (ANABONOS consortium). The work of L.M. has been supported by funds from the Centre National de la Recherche Scientifique, INSERM, and Université Pierre et Marie Curie and by grants from the Fondation de France, the Fondation pour la Recherche Médicale, the Association pour la Recherche contre le Cancer, the French Ministry of Research (Agence Nationale pour la Recherche),and the European Community. The team of L.M. is an 'Equipe Fondation pour la Recherche Médicale.', and Maroteaux, Luc
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Bone density ,Osteoporosis ,MESH: Mice, Knockout ,Biochemistry ,Bone remodeling ,Mice ,0302 clinical medicine ,Bone Density ,MESH: Animals ,MESH: Aging ,Receptor ,MESH: Bone Density ,Cells, Cultured ,Mice, Knockout ,0303 health sciences ,Cell Differentiation ,Osteoblast ,MESH: Gene Expression Regulation ,5-HT2B receptor ,medicine.anatomical_structure ,Female ,neurotransmitter ,MESH: Cells, Cultured ,Biotechnology ,MESH: Cell Differentiation ,MESH: Receptors, Serotonin ,medicine.medical_specialty ,030209 endocrinology & metabolism ,Biology ,Article ,03 medical and health sciences ,MESH: Cell Proliferation ,Internal medicine ,[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,Genetics ,medicine ,Animals ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,MESH: Mice ,Molecular Biology ,Cell Proliferation ,030304 developmental biology ,MESH: Osteoblasts ,Osteoblasts ,aging ,medicine.disease ,osteoporosis ,Osteopenia ,Bone Diseases, Metabolic ,Endocrinology ,Gene Expression Regulation ,Receptors, Serotonin ,Bone marrow ,MESH: Female ,MESH: Bone Diseases, Metabolic - Abstract
International audience; The monoamine serotonin (5-HT), a well-known neurotransmitter, is also important in peripheral tissues. Several studies have suggested that 5-HT is involved in bone metabolism. Starting from our original observation of increased 5-HT(2B) receptor (5-HT(2B)R) expression during in vitro osteoblast differentiation, we investigated a putative bone phenotype in vivo in 5-HT(2B)R knockout mice. Of interest, 5-HT(2B)R mutant female mice displayed reduced bone density that was significant from age 4 months and had intensified by 12 and 18 months. This histomorphometrically confirmed osteopenia seems to be due to reduced bone formation because 1) the alkaline phosphatase-positive colony-forming unit capacity of bone marrow precursors was markedly reduced in the 5-HT(2B)R mutant mice from 4 to 12 months of age, 2) ex vivo primary osteoblasts from mutant mice exhibited reduced proliferation and delayed differentiation, and 3) calcium incorporation was markedly reduced in osteoblasts after 5-HT(2B)R depletion (produced genetically or by pharmacological inactivation). These findings support the hypothesis that the 5-HT(2B)R receptor facilitates osteoblast recruitment and proliferation and that its absence leads to osteopenia that worsens with age. We show here, for the first time, that the 5-HT(2B)R receptor is a physiological mediator of 5-HT in bone formation and, potentially, in the onset of osteoporosis in aging women.
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- 2007
100. Overexpression of the Transcriptional Factor Runx2 in Osteoblasts Abolishes the Anabolic Effect of Parathyroid Hormone in Vivo
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Didier Merciris, Valérie Geoffroy, Caroline Marty, Corinne Collet, and Marie-Christine de Vernejoul
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musculoskeletal diseases ,endocrine system ,medicine.medical_specialty ,Bone density ,Anabolism ,Parathyroid hormone ,Core Binding Factor Alpha 1 Subunit ,Mice, Transgenic ,Anabolic Agents ,Pathology and Forensic Medicine ,Bone remodeling ,Mice ,Absorptiometry, Photon ,stomatognathic system ,Bone Density ,In vivo ,Internal medicine ,Cyclic AMP ,medicine ,Animals ,Osteoblasts ,Reverse Transcriptase Polymerase Chain Reaction ,Chemistry ,musculoskeletal, neural, and ocular physiology ,Cell Differentiation ,Osteoblast ,RUNX2 ,medicine.anatomical_structure ,Endocrinology ,Parathyroid Hormone ,Osteoporosis ,Female ,Bone Remodeling ,hormones, hormone substitutes, and hormone antagonists ,Regular Articles - Abstract
There is convincing evidence that Runx2 could be a regulator of the anabolic action of parathyroid hormone (PTH) in bone. We therefore decided to determine how Runx2 overexpression in osteoblasts affects the anabolic response to PTH. Transgenic osteoporotic female mice overexpressing Runx2 (TG) and their wild-type littermates (WT) were treated with PTH (100 microg/kg/day, 7 days a week) or with the vehicle for 6 weeks. Unexpectedly, Runx2 overexpression blunted the increase in the mineral density and volume of bone induced by intermittent PTH in WT mice. Our findings also indicate that PTH failed to increase bone formation in TG mice overexpressing Runx2. This abolition of the effect of PTH by Runx2 overexpression was attributable to a decrease in the differentiation of osteoblastic cells both in vivo and in vitro. Finally, we showed that less cAMP was induced by PTH and that there were fewer PTH binding sites in TG than WT osteoblasts. In conclusion, our findings demonstrate that in vivo a high level of Runx2 abolishes the anabolic effect of PTH, probably via a decrease in the sensitivity of TG osteoblasts to PTH, and that the level of expression of Runx2 is critical if PTH is to produce its anabolic effect on bone in vivo.
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- 2007
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