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272 results on '"Rougeot, C."'

6. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Author

Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, and Gordon CT

Subjects
craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis
Abstract

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies.

Published
2020

12. Targets for SMR1-pentapeptide suggest a link between the circulating peptide and mineral transport

Author

Rougeot, C., Vienet, R., Cardona, A., Le Doledec, L., Grognet, J.M., and Rougeon, F.

Subjects
Peptides -- Physiological aspects, Autoradiography -- Usage, Rats -- Physiological aspects, Biological sciences
Abstract

The potential peripheral targets for the final secretory maturation product of submandibular rat 1 protein (SMR1), the pentapeptide QHNPR was mapped by analyzing in vivo the gross tissue distribution of the radiolabeled peptide with whole body autoradiography. The findings indicate that the circulating androgen-regulated SMR1-derived pentapeptide is mainly involved in modulating mineral balance between at least four systems namely kidney, bone, tooth and circulation.

Published
1997

18. Opiorphin Secretion Pattern in Healthy Volunteers: Gender Difference and Organ Specificity

Author

ri R, Dufour E, Rougeot C, Ungeheuer Mn, Jouannet P, Villard-Saussine S, and Mellon

Subjects
Saliva, medicine.medical_specialty, Enkephalin, Opiorphin, Semen, General Medicine, Urine, Biology, Endocrinology, Internal medicine, medicine, Endocrine system, Tears, Secretion, medicine.drug
Abstract

Background: Opiorphin is an endogenous human peptide regulator of enkephalin bioavailability. It inhibits enkephalin-inactivating ectopeptidases to produce analgesia and antidepressant-like effects in standard rodent models via activation of μ and/or δ opioid pathways. Our aim was to establish the quantitative profile of secretion and distribution of this regulator in young adult volunteers. Methods: We developed a specific ELISA-based method, in tandem with RP-HPLC chromatography, to determine opiorphin levels in blood, urine, semen and milk of healthy male and female volunteers. We also investigated the presence of the mature opiorphin in tears and saliva because it was previously reported that PROL1 gene, encoding opiorphin precursor, is primarily expressed in human lachrymal and salivary glands. Results: Opiorphin circulates as an endocrine messenger in the human bloodstream at 0.3-1.1 ng/ml median ranges. Its physiological concentration under basal conditions is higher in males than in females while it is significantly lower in sixth month pregnant compared to non-pregnant volunteers. It is eliminated in the urine with a significant higher rate in men compared to women. Opiorphin is distributed, at rates 10 times higher than in plasma, in the semen of normozoospermic donors and in the milk of lactating women as both free molecular and cation mineral-binding forms. Opiorphin is secreted in tears and saliva at the highest physiological concentrations, demonstrating that salivary and lachrymal glands are the tissues of major expression and secretion of PROL1 gene mature products. Discussion: Our data, associated with database searches from human transcriptome and our previous functional findings, provide evidence that opiorphin exerts organ-specific and gender-specific functions in human physiological systems through neuroendocrine, paracrine/autocrine and/or exocrine mechanisms.

Published
2013

19. Stratégie d'exploration d'une déficience intellectuelle inexpliquée

Author

Verloes, Alain, Heron, Delphine, Billette de Villemeur, T, Afenjar, Alexandra, Bahi-Buisson, N., Baumann, Cédric, Charles, P., Faudet, A., Jacquette, A., Mignot, Cyril, Moutard, Ml, Passemard, S., Rio, M., Robel, L., Rougeot, C., Ville, Dorothée, Burglen, L., Des Portes, Vincent, 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), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon

Subjects
[SCCO.NEUR]Cognitive science/Neuroscience
Abstract

International audience; Developmental disability/mental retardation is a major public health problem and a common cause of consultation in pediatrics, neuropediatrics, and genetics. Etiologies of mental retardation are highly heterogeneous. Diagnostic strategies have been explored in a small number of consensus publications, essentially from English-speaking countries. In these publications, the utility of the conventional karyotype, fragile X screening, metabolic workup, and brain imaging were discussed. Recently, investigations in mental disabilities have been dramatically modified by molecular cytogenetics and the emergence of new metabolic pathologies. Based on the published experiments, the Reference centers for rare disease network "mental deficiencies with rare causes" elaborated an updated protocol for the investigation of nonsyndromal mental disability that takes into account recent innovations in genetics and genomics. Whenever local facilities make it possible, we recommend array CGH investigation as the first step or, when CGH is not available, a combination of classic karyotype with systematic screening of telomeric and interstitial rearrangements by MLPA, fragile X screening in both sexes, and a reorientation of metabolic screening toward certain diseases that have recently been described: congenital disorders of glycosylation (CDG), thyroid hormone carrier deficiency, and creatine metabolism deficiency. We recommend MRI imaging only if head size is abnormal, if neurological examination is abnormal, or regression occurs if walking is not achieved by 2 years, or if development is severely delayed.

Published
2012

20. PP12.10 – 2930: Expansion of the spectrum of TUBB4A mutations-related phenotype in hypomyelinating leukodystophy with atrophy of basal ganglia and cerebellum

Author

Renaldo, F., primary, Fettah, H., additional, Samaan, S., additional, Elmaleh, M., additional, Maurey, H., additional, Sevin, C., additional, Rougeot, C., additional, des Portes, V., additional, Drunat, S., additional, Rodriguez, D., additional, Dorboz, I., additional, and Boespflug-Tanguy, O., additional

Published
2015
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42. Generation of lyso-phospholipids from surfactant in acute lung injury is mediated by type-II phospholipase A2 and inhibited by a direct surfactant protein A-phospholipase A2 protein interaction.

Author

Arbibe, L, primary, Koumanov, K, additional, Vial, D, additional, Rougeot, C, additional, Faure, G, additional, Havet, N, additional, Longacre, S, additional, Vargaftig, B B, additional, Béréziat, G, additional, Voelker, D R, additional, Wolf, C, additional, and Touqui, L, additional

Published
1998
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44. Part 4A. Morphological and biochemical markers

Author

Rochefort, H, primary, Laurent, V, additional, Farnoud, R, additional, Liaudet, E, additional, Rey, J-M, additional, Lemamy, G, additional, Derocq, D, additional, Rougeot, C, additional, Roger, P, additional, Petitjean, C, additional, Proux, L, additional, and Garcia, M, additional

Published
1998
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