16 results on '"Salles, Jean Pierre"'
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2. sj-docx-1-tab-10.1177_1759720X221084848 ��� Supplemental material for Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
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Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, and Irving, Melita
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FOS: Clinical medicine ,110604 Sports Medicine ,FOS: Health sciences ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified ,110314 Orthopaedics - Abstract
Supplemental material, sj-docx-1-tab-10.1177_1759720X221084848 for Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies by Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong and Melita Irving in Therapeutic Advances in Musculoskeletal Disease
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- 2022
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3. sj-docx-1-tab-10.1177_1759720X221084848 ��� Supplemental material for Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
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Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, and Irving, Melita
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FOS: Clinical medicine ,110604 Sports Medicine ,FOS: Health sciences ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified ,110314 Orthopaedics - Abstract
Supplemental material, sj-docx-1-tab-10.1177_1759720X221084848 for Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies by Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong and Melita Irving in Therapeutic Advances in Musculoskeletal Disease
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- 2022
- Full Text
- View/download PDF
4. Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
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Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas, CHU Toulouse [Toulouse], Centre de référence des maladies rares du métabolisme du calcium et du phosphate, Service de gynécologie-obstétrique [CHU Toulouse], Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and GHU AP-HP Centre Université de Paris
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Neonatal severe hyperparathyroidism ,Familial hypocalciuric hypercalcemia ,Calcimimetics ,[SDV]Life Sciences [q-bio] ,Calcium-sensing receptor ,[SDV.IMM]Life Sciences [q-bio]/Immunology ,[SDV.BDD]Life Sciences [q-bio]/Development Biology - Abstract
International audience; Background: Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved in a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) to neonatal severe hyperparathyroidism (NSHPT). Homozygous or compound heterozygous variants are usually responsible for severe neonatal forms, whereas heterozygous variants cause benign forms. One recurrent pathogenic variant, p.Arg185Gln, has been reported in both forms, in a heterozygous state. This variant can be a de novo occurrence or can be inherited from a father with FHH.NSHPT leads to global hypotonia, failure to thrive, typical X-ray anomalies (diffuse demineralization, fractures, metaphyseal irregularities), and acute respiratory distress which can be fatal. Phosphocalcic markers show severe hypercalcemia, abnormal urinary calcium resorption, and hyperparathyroidism as major signs.Classical treatment involves calcium restriction, hyperhydration, and bisphosphonates. Unfortunately, the disease often leads to parathyroidectomy. Recently, calcimimetics have been used with variable efficacy. Efficacy in NSHPT seems to be particularly dependent on CASR genotype.Case presentation: We describe the antenatal presentation of a male with short ribs, initially suspected having skeletal ciliopathy. At birth, he presented with NSHPT linked to the pathogenic heterozygous CASR variant, Arg185Gln, inherited from his father who had FHH. Postnatal therapy with cinacalcet was successful.Discussion: An exhaustive literature review permits a comparison with all reported cases of Arg185Gln and to hypothesize that cinacalcet efficacy depends on CASR genotype. This confirms the importance of pedigree and parental history in antenatal short rib presentation and questions the feasibility of phosphocalcic exploration during pregnancy or prenatal CASR gene sequencing in the presence of specific clinical signs. It could in fact enable early calcimimetic treatment which might be effective in the CASR variant Arg185Gln.
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- 2021
5. Hypophosphatasia
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Laroche, Michel, Couture, Guillaume, Faruch, Marie, Ruyssen-Witrand, Adeline, Porquet-Bordes, Valérie, Salles, Jean Pierre, Degboe, Yannick, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de référence des maladies rares du métabolisme du calcium et du phosphate, Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), 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)-Centre National de la Recherche Scientifique (CNRS), and Benson-Rumiz, Alicia
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[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,THERAPEUTICS ,DISEASES AND DISORDERS OF/RELATED TO BONE ,DISORDERS OF CALCIUM/PHOSPHATE METABOLISM ,BONE DISEASES ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between them. We report on the cases of two patients treated with 1 mg/kg/day of asfotase alfa who developed spinal cord compression from spinal ossifications during treatment. The first patient, 50 years old, presented after 2 years of treatment with quadraparesis secondary to an increase in ossifications of the cervical vertebral ligaments. The neurological damage was resolved after laminectomy, and the patient was then treated for 18 months with doses of 80 mg per week, without recurrence of the bone and muscle signs. The second patient, 26 years old, 78 kg, developed pain and cervical stiffness with pyramidal tract irritation secondary to ossifications of the vertebral ligaments. This improved with a reduction of doses to 80 mg/week, which then, after 6 months of follow-up, enabled maintained improvement of the bone and muscle pain that was initially obtained. To our knowledge, these are the first reported cases of increased spinal ligamentous ossifications with neurological complications. Biological monitoring in adults does not seem to enable asfotase alfa doses to be adjusted. The levels of serum alkaline phosphatase (ALP) while on the recommended treatment of 1 mg/kg/day are significantly supraphysiological (5000 to 20,000 IU) and the assays of pyrophosphate and pyridoxal phosphate are not correlated with clinical efficacy. In both of our patients, the treatment with 80 mg of asfotase alfa per week, which was proposed after the occurrence of spinal complications, seemed as effective, after a follow-up of 18 months and 6 months, as the initial treatment for improving the bone and muscle signs, and could be provided as “attack” doses after healing of the pseudoarthroses.
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- 2021
6. Thrombocytopenia is independently associated with poor outcome in patients hospitalized for COVID‐19
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Maquet, Julien, Lafaurie, Margaux, Sommet, Agnès, Moulis, Guillaume, Alvarez, Muriel, Amar, Jacques, Attal, Michel, Balardy, Laurent, Balen, Frédéric, Beyne‐Rauzy, Odile, Bouali, Ourdia, Bounes, Fanny, Bureau, Christophe, Buscail, Louis, Calviere, Lionel, Charpentier, Sandrine, Chollet, François, Claudet, Isabelle, Constantin, Arnaud, Debard, Alexa, Delavigne, Karen, Delobel, Pierre, Delrieu, Julien, Didier, Alain, Faruch, Marie, Fourcade, Olivier, Georges, Bernard, Grunenwald, Etienne, Guyonnet, Sophie, Hanaire, Hélène, Hein, Christophe, Kamar, Nassim, Lairez, Olivier, Mansat, Pierre, Martin‐Blondel, Guillaume, Minville, Vincent, Pariente, Jérémie, Paul, Carle, Payoux, Pierre, Pugnet, Grégory, Piel‐Julian, Marie‐Léa, Recher, Christian, Rolland, Yves, Ruyssen‐Witrand, Adeline, Sabatier, Jean, Sailler, Laurent, Salles, Jean‐Pierre, Sans, Nicolas, Secher, Marion, Sevely, Annick, Silva, Stein, Thalamas, Claire, and Toulza, Olivier
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Male ,medicine.medical_specialty ,Letter ,Coronavirus disease 2019 (COVID-19) ,Pneumonia, Viral ,Population ,thrombocytopenia ,COVID‐2019 ,intensive care unit ,SARS‐CoV‐2 ,Disease-Free Survival ,law.invention ,Betacoronavirus ,03 medical and health sciences ,0302 clinical medicine ,law ,Internal medicine ,medicine ,Humans ,Platelet ,Letters ,Prospective Studies ,Platelet activation ,education ,Prospective cohort study ,Pandemics ,Survival rate ,Aged ,education.field_of_study ,Hematology ,SARS-CoV-2 ,business.industry ,COVID-19 ,Middle Aged ,mortality ,Intensive care unit ,Hospitalization ,Survival Rate ,030220 oncology & carcinogenesis ,Female ,Coronavirus Infections ,business ,030215 immunology - Abstract
Thrombocytopenia (defined by platelet count
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- 2020
7. Possible Role of Adipose Tissue and Endocannabinoid System in COVID‐19 Pathogenesis: Can Rimonabant Return?
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Briand‐Mésange, Fabienne, Trudel, Stéphanie, Salles, Juliette, Ausseil, Jérôme, Salles, Jean‐Pierre, and Chap, Hugues
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obesity ,COVID‐19 ,rimonabant ,Perspective ,endocannabinoids ,Perspectives ,adipose tissue - Abstract
This is the main conclusion of a recent study describing a strong relationship between the degree of obesity and the severity of COVID‐19 infection. Obesity has various negative consequences relative to the course of COVID‐19, including adverse effects on lung physiology, and induces comorbidities such as type II diabetes or hypertension. However, additional mechanisms involving the low‐grade inflammatory state accompanying obesity can also be suggested.
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- 2020
8. Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia
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Saint-Laurent, Celine, Garcia, Stephanie, Sarrazy, Vincent, Dumas, Karine, Authier, Florence, Sore, Sophie, Tran, Albert, Gual, Philippe, Gennero, Isabelle, Salles, Jean-Pierre, and Gouze, Elvire
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Blood Glucose ,Male ,Fibroblast Growth Factor ,Physiology ,Limb Reduction Defects ,lcsh:Medicine ,Biochemistry ,Fats ,Mice ,Endocrinology ,Glucose Metabolism ,Animal Cells ,Medicine and Health Sciences ,Morphogenesis ,Adipocytes ,Secondary Prevention ,Insulin ,Child ,lcsh:Science ,Connective Tissue Cells ,Lipids ,Physiological Parameters ,Connective Tissue ,Child, Preschool ,Carbohydrate Metabolism ,Female ,Cellular Types ,Anatomy ,Research Article ,musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,Dwarfism ,Mice, Transgenic ,Achondroplasia ,Growth Factors ,Congenital Disorders ,Animals ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Birth Defects ,Obesity ,Diabetic Endocrinology ,Endocrine Physiology ,Body Weight ,lcsh:R ,Infant, Newborn ,Biology and Life Sciences ,Infant ,Mesenchymal Stem Cells ,Cell Biology ,Lipid Metabolism ,Hormones ,Disease Models, Animal ,Metabolism ,Biological Tissue ,Age Groups ,People and Places ,Population Groupings ,lcsh:Q ,Biomarkers ,Developmental Biology - Abstract
Background Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been somewhat neglected. It nevertheless represents a major health problem in these patients, and is associated to life-threatening complications including increasing risk of cardiovascular pathologies. We have thus decided to study obesity in patients and to use the mouse model to evaluate if soluble FGFR3 therapy, an innovative treatment approach for achondroplasia, could also impact the development of this significant complication. Methods and findings To achieve this, we have first fully characterized the metabolic deregulations in these patients by conducting a longitudinal retrospective study, in children with achondroplasia Anthropometric, densitometric measures as well as several blood parameters were recorded and compared between three age groups ranging from [0–3], [4–8] and [9–18] years old. Our results show unexpected results with the development of an atypical obesity with preferential fat deposition in the abdomen that is remarkably not associated with classical complications of obesity such as diabetes or hypercholosterolemia. Because it is not associated with diabetes, the atypical obesity has not been studied in the past even though it is recognized as a real problem in these patients. These results were validated in a murine model of achondroplasia (Fgfr3ach/+) where similar visceral adiposity was observed. Unexpected alterations in glucose metabolism were highlighted during high-fat diet. Glucose, insulin or lipid levels remained low, without the development of diabetes. Very interestingly, in achondroplasia mice treated with soluble FGFR3 during the growth period (from D3 to D22), the development of these metabolic deregulations was prevented in adult animals (between 4 and 14 weeks of age). The lean-over-fat tissues ratio was restored and glucose metabolism showed normal levels. Treating Fgfr3ach/+ mice with soluble FGFR3 during the growth period, prevented the development of these metabolic deregulations in adult animals and restored lean-over-fat tissues ratio as well as glucose metabolism in adult animals. Conclusion This study demonstrate that achondroplasia patients develop an atypical obesity with preferential abdominal obesity not associated with classical complications. These results suggest that achondroplasia induces an uncommon metabolism of energy, directly linked to the FGFR3 mutation. These data strongly suggest that this common complication of achondroplasia should be included in the clinical management of patients. In this context, sFGFR3 proved to be a promising treatment for achondroplasia by normalizing the biology at different levels, not only restoring bone growth but also preventing the atypical visceral obesity and some metabolic deregulations.
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- 2018
9. Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling
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Serra-Nedelec, A., Treguer, K., Tajan, M., Araki, T., Dance, M., Mus, M., Montagner, A., Valet, P., Neel, B., Edouard, Thomas, Combier, Jean-Philippe, Nédélec, Audrey, Bel-Vialar, Sophie, Métrich, Mélanie, Conte-Auriol, Francoise, Lyonnet, Stanislas, Parfait, Béatrice, Tauber, Maithé, Salles, Jean-Pierre, Lezoualc'H, Frank, Yart, Armelle, Raynal, Patrick, Centre d’Etudes et de Recherches en Psychopathologie et Psychologie de la Santé (CERPPS), and Université Toulouse - Jean Jaurès (UT2J)
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[SDV]Life Sciences [q-bio] ,Recombinant Fusion Proteins ,Protein Tyrosine Phosphatase, Non-Receptor Type 11 ,Chick Embryo ,Protein tyrosine phosphatase ,Biology ,Glycogen Synthase Kinase 3 ,Phosphatidylinositol 3-Kinases ,03 medical and health sciences ,0302 clinical medicine ,GSK-3 ,Epidermal growth factor ,LEOPARD Syndrome ,Animals ,Humans ,Myocytes, Cardiac ,Phosphorylation ,RNA, Small Interfering ,Molecular Biology ,Protein kinase B ,GSK3B ,ComputingMilieux_MISCELLANEOUS ,Cells, Cultured ,PI3K/AKT/mTOR pathway ,Adaptor Proteins, Signal Transducing ,030304 developmental biology ,0303 health sciences ,Glycogen Synthase Kinase 3 beta ,Epidermal Growth Factor ,Articles ,Cell Biology ,Fibroblasts ,Molecular biology ,Rats ,3. Good health ,Enzyme Activation ,Mutation ,Signal transduction ,Proto-Oncogene Proteins c-akt ,Atrial Natriuretic Factor ,030217 neurology & neurosurgery ,Signal Transduction - Abstract
LEOPARD syndrome (LS), a disorder with multiple developmental abnormalities, is mainly due to mutations that impair the activity of the tyrosine phosphatase SHP2 (PTPN11). How these alterations cause the disease remains unknown. We report here that fibroblasts isolated from LS patients displayed stronger epidermal growth factor (EGF)-induced phosphorylation of both AKT and glycogen synthase kinase 3beta (GSK-3beta) than fibroblasts from control patients. Similar results were obtained in HEK293 cells expressing LS mutants of SHP2. We found that the GAB1/phosphoinositide 3-kinase (PI3K) complex was more abundant in fibroblasts from LS than control subjects and that both AKT and GSK-3beta hyperphosphorylation were prevented by reducing GAB1 expression or by overexpressing a GAB1 mutant unable to bind to PI3K. Consistently, purified recombinant LS mutants failed to dephosphorylate GAB1 PI3K-binding sites. These mutants induced PI3K-dependent increase in cell size in a model of chicken embryo cardiac explants and in transcriptional activity of the atrial natriuretic factor (ANF) gene in neonate rat cardiomyocytes. In conclusion, SHP2 mutations causing LS facilitate EGF-induced PI3K/AKT/GSK-3beta stimulation through impaired GAB1 dephosphorylation, resulting in deregulation of a novel signaling pathway that could be involved in LS pathology.
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- 2010
10. Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center
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Frascari, Flora, Dreyfus, Isabelle, Rodriguez, Lauriane, Gennero, Isabelle, Ezzedine, Khaled, Salles, Jean-Pierre, Mazereeuw-Hautier, Juliette, centre de référence des maladies rares de la peau, CHU Toulouse [Toulouse], Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biochimie [Purpan], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut Fédératif de Biologie (IFB) - Hôpital Purpan, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Service de Dermatologie et Dermatologie Pédiatrique, CHU Bordeaux [Bordeaux]-Centre National des Maladies Rares de la Peau-Hôpital Saint André, Unité d'Endocrinologie, Génétique, Gynécologie et Maladies Osseuses, and CHU Toulouse [Toulouse]- Centre de Référence des Maladies du Métabolisme du Calcium et du Phosphore-Hôpital des Enfants
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Vitamin D deficiency ,Risk factors ,Prevalence ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Genodermatosis ,Inherited ichthyosis - Abstract
International audience; Background:To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis.The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level
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- 2013
11. Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center
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Frascari, Flora, Dreyfus, Isabelle, Rodriguez, Lauriane, Gennero, Isabelle, Ezzedine, Khaled, Salles, Jean-Pierre, Mazereeuw-Hautier, Juliette, Centre de référence des maladies rares de la peau et des muqueuses d’origine génétique [CHU Toulouse] (CRMRP), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biochimie [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], Service de Dermatologie et Dermatologie Pédiatrique, CHU Bordeaux [Bordeaux]-Centre National des Maladies Rares de la Peau-Hôpital Saint André, Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Taibi, Nadia
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Vitamin D deficiency ,Risk factors ,[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie ,Prevalence ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Genodermatosis ,Inherited ichthyosis - Abstract
International audience; Background:To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis.The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level
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- 2013
12. Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center
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Frascari, Flora, Dreyfus, Isabelle, Rodriguez, Lauriane, Gennero, Isabelle, Ezzedine, Khaled, Salles, Jean-Pierre, Mazereeuw-Hautier, Juliette, centre de référence des maladies rares de la peau, CHU Toulouse [Toulouse], Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biochimie [Purpan], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut Fédératif de Biologie (IFB) - Hôpital Purpan, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Service de Dermatologie et Dermatologie Pédiatrique, CHU Bordeaux [Bordeaux]-Centre National des Maladies Rares de la Peau-Hôpital Saint André, Unité d'Endocrinologie, Génétique, Gynécologie et Maladies Osseuses, and CHU Toulouse [Toulouse]- Centre de Référence des Maladies du Métabolisme du Calcium et du Phosphore-Hôpital des Enfants
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Vitamin D deficiency ,Risk factors ,Prevalence ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Genodermatosis ,Inherited ichthyosis - Abstract
International audience; Background:To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis.The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level
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- 2013
13. LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice
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Touvier, Thierry, Conte-Auriol, Françoise, Briand, Olivier, Cudejko, Céline, Paumelle, Réjane, Caron, Sandrine, Baugé, Eric, Rouillé, Yves, Salles, Jean-Pierre, Staels, Bart, Bailleul, Bernard, Récepteurs nucléaires, lipoprotéines et athérosclérose, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie de Lille - IBL (IBLI), Université de Lille, Sciences et Technologies-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), and Derudas, Marie-Hélène
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MESH: Signal Transduction ,MESH: Humans ,MESH: Rats ,MESH: Mice, Transgenic ,MESH: STAT5 Transcription Factor ,MESH: RNA Interference ,MESH: Fasting ,MESH: Carrier Proteins ,MESH: Suppressor of Cytokine Signaling Proteins ,MESH: Male ,MESH: Cell Line ,MESH: Recombinant Proteins ,MESH: Hepatocytes ,MESH: Mice, Inbred C57BL ,MESH: Growth Hormone ,MESH: Diabetes Mellitus, Experimental ,[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,MESH: Animals ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,MESH: Mice ,MESH: Receptors, Somatotropin ,MESH: Female ,MESH: RNA, Messenger ,MESH: Liver - Abstract
International audience; Growth hormone (GH) is a major metabolic regulator that functions by stimulating lipolysis, preventing protein catabolism, and decreasing insulin-dependent glucose disposal. Modulation of hepatic sensitivity to GH and the downstream effects on the GH/IGF1 axis are important events in the regulation of metabolism in response to variations in food availability. For example, during periods of reduced nutrient availability, the liver becomes resistant to GH actions. However, the mechanisms controlling hepatic GH resistance are currently unknown. Here, we investigated the role of 2 tetraspanning membrane proteins, leptin receptor overlapping transcript (LEPROT; also known as OB-RGRP) and LEPROT-like 1 (LEPROTL1), in controlling GH sensitivity. Transgenic mice expressing either human LEPROT or human LEPROTL1 displayed growth retardation, reduced plasma IGF1 levels, and impaired hepatic sensitivity to GH, as measured by STAT5 phosphorylation and Socs2 mRNA expression. These phenotypes were accentuated in transgenic mice expressing both proteins. Moreover, gene silencing of either endogenous Leprot or Leprotl1 in H4IIE hepatocytes increased GH signaling and enhanced cell-surface GH receptor. Importantly, we found that both LEPROT and LEPROTL1 expression were regulated in the mouse liver by physiologic and pathologic changes in glucose homeostasis. Together, these data provide evidence that LEPROT and LEPROTL1 influence liver GH signaling and that regulation of the genes encoding these proteins may constitute a molecular link between nutritional signals and GH actions on body growth and metabolism.
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- 2009
14. LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice
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Touvier, Thierry, Conte-Auriol, Françoise, Briand, Olivier, Cudejko, Céline, Paumelle, Réjane, Caron, Sandrine, Baugé, Eric, Rouillé, Yves, Salles, Jean-Pierre, Staels, Bart, Bailleul, Bernard, Récepteurs nucléaires, lipoprotéines et athérosclérose, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie de Lille - IBL (IBLI), Université de Lille, Sciences et Technologies-Institut Pasteur de Lille, and Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS)
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MESH: Signal Transduction ,MESH: Humans ,MESH: Rats ,MESH: Mice, Transgenic ,MESH: STAT5 Transcription Factor ,MESH: RNA Interference ,MESH: Fasting ,MESH: Carrier Proteins ,MESH: Suppressor of Cytokine Signaling Proteins ,MESH: Male ,MESH: Cell Line ,MESH: Recombinant Proteins ,MESH: Hepatocytes ,MESH: Mice, Inbred C57BL ,MESH: Growth Hormone ,MESH: Diabetes Mellitus, Experimental ,MESH: Animals ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,MESH: Mice ,MESH: Receptors, Somatotropin ,MESH: Female ,MESH: RNA, Messenger ,MESH: Liver - Abstract
International audience; Growth hormone (GH) is a major metabolic regulator that functions by stimulating lipolysis, preventing protein catabolism, and decreasing insulin-dependent glucose disposal. Modulation of hepatic sensitivity to GH and the downstream effects on the GH/IGF1 axis are important events in the regulation of metabolism in response to variations in food availability. For example, during periods of reduced nutrient availability, the liver becomes resistant to GH actions. However, the mechanisms controlling hepatic GH resistance are currently unknown. Here, we investigated the role of 2 tetraspanning membrane proteins, leptin receptor overlapping transcript (LEPROT; also known as OB-RGRP) and LEPROT-like 1 (LEPROTL1), in controlling GH sensitivity. Transgenic mice expressing either human LEPROT or human LEPROTL1 displayed growth retardation, reduced plasma IGF1 levels, and impaired hepatic sensitivity to GH, as measured by STAT5 phosphorylation and Socs2 mRNA expression. These phenotypes were accentuated in transgenic mice expressing both proteins. Moreover, gene silencing of either endogenous Leprot or Leprotl1 in H4IIE hepatocytes increased GH signaling and enhanced cell-surface GH receptor. Importantly, we found that both LEPROT and LEPROTL1 expression were regulated in the mouse liver by physiologic and pathologic changes in glucose homeostasis. Together, these data provide evidence that LEPROT and LEPROTL1 influence liver GH signaling and that regulation of the genes encoding these proteins may constitute a molecular link between nutritional signals and GH actions on body growth and metabolism.
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- 2009
15. X-linked nephrogenic diabetes insipidus: From the ship hopewell to RFLP studies
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Bichet, Daniel G., Hendy, Geoffrey N., Lonergan, Michèle, Arthus, Marie-Françoise, Ligier, Sophie, Pausova, Zdenka, Kluge, Rüdiger, Zingg, Hans, Saenger, Paul, Oppenheimer, Ellen, Hirsch, David J., Gilgenkrantz, Simone, Salles, Jean-Pierre, Oberlé, Isabelle, Mandel, Jean-Louis, Gregory, Martin C., Fujiwara, T. Mary, Morgan, Kenneth, and Scriver, Charles R.
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Genetic Markers ,Male ,X Chromosome ,Genetic Carrier Screening ,Original Articles ,Polymerase Chain Reaction ,Pedigree ,Blotting, Southern ,Nova Scotia ,Haplotypes ,Prenatal Diagnosis ,Prevalence ,Humans ,Female ,Lod Score ,Diabetes Insipidus ,Polymorphism, Restriction Fragment Length - Abstract
Nephrogenic diabetes insipidus (NDI; designated 304800 in Mendelian Inheritance in Man) is an X-linked disorder with abnormal renal and extrarenal V2 vasopressin receptor responses. The mutant gene has been mapped to Xq28 by analysis of RFLPs, and tight linkage between DXS52 and NDI has been reported. In 1969, Bode and Crawford proposed, under the term "the Hopewell hypothesis," that most cases in North America could be traced to descendants of Ulster Scots who arrived in Nova Scotia in 1761 on the ship Hopewell. They also suggested a link between this family and a large Mormon pedigree. DNA samples obtained from 13 independent affected families, including 42 members of the Hopewell and Mormon pedigrees, were analyzed with probes in the Xq28 region. Genealogical reconstructions were performed. Linkage between NDI and DXS304 (probe U6:2.spl), DXS305 (St35-691), DXS52 (St14-1), DXS15 (DX13), and F8C (F814) showed no recombination in 12 families, with a maximum lod score of 13.5 for DXS52. A recombinant between NDI and DXS304, DXS305, was identified in one family. The haplotype segregating with the disease in the Hopewell pedigree was not shared by other North American families. PCR analysis of the St14 VNTR allowed the distinction of two alleles that were not distinguishable by Southern analysis. Carrier status was predicted in 24 of 26 at-risk females. The Hopewell hypothesis cannot explain the origin of NDI in many of the North American families, since they have no apparent relationship with the Hopewell early settlers, either by haplotype or by genealogical analysis. We confirm the locus homogeneity of the disease by linkage analysis in ethnically diverse families. PCR analysis of the DXS52 VNTR in NDI families is very useful for carrier testing and presymptomatic diagnosis, which can prevent the first manifestations of dehydration.
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- 1992
16. Final heights in 398 patients with X-linked hypophosphatemia (XLH) over the last decades in France, a surrogate marker of improved disease management. Study of a large cohort of XLH patients born between 1950 and 2006
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Berkenou, Jugurtha, Boros, Emese, Amouroux, Cyril, Bacchetta, Justine, Karine Briot, Edouard, Thomas, Gueorgieva, Iva, Girerd, Barbara, Kamenicky, Peter, Lecoq, Anne-Lise, Marquant, Emeline, Mignot, Brigitte, Bordes, Valerie Porquet, Salles, Jean-Pierre, Zhukouskaya, Volha, Linglart, Agnes, and Rothenbuhler, Anya
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