Search Results - "Magre, J."
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Serum Leptin Level Is a Regulator of Bone Mass
Published in Proceedings of the National Academy of Sciences - PNAS (02-03-2004)“…Leptin is a powerful inhibitor of bone formation in vivo. This antiosteogenic function involves leptin binding to its receptors on ventromedial hypothalamic…”
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Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice
Published in Diabetologia (01-08-2013)“…Aims/hypothesis Mutations in BSCL 2/seipin cause Berardinelli–Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterised by near absence of…”
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3
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene
Published in Journal of inherited metabolic disease (01-12-2008)“…Summary Congenital generalized lipodystrophy (CGL) is an autosomal recessive metabolic syndrome with involvement of multiple organs. Mutations in BSCL2 are…”
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CO-20: Caractérisation de la cardiomyopathie associée à la lipodystrophie congénitale généralisée de Berardinelli-Seip
Published in Diabetes & metabolism (01-03-2016)“…Introduction La lipodystrophie congénitale de Berardinelli-Seip (BSCL) est un syndrome rare caractérisé par une absence généralisée de tissu adipeux, une…”
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5
Deformable titanium for acetabular revision surgery: a proof of concept
Published in 3D printing in medicine (09-06-2023)“…Custom-made triflange acetabular implants are increasingly used in complex revision surgery where supporting bone stock is diminished. In most cases these…”
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Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode
Published in Scientific reports (17-10-2016)“…Loss-of-function mutations in BSCL2 are responsible for Berardinelli-Seip congenital lipodystrophy, a rare disorder characterized by near absence of adipose…”
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Diseases of adipose tissue: genetic and acquired lipodystrophies
Published in Biochemical Society transactions (01-11-2005)“…Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin…”
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Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
Published in Diabetes (New York, N.Y.) (01-11-2000)“…Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and…”
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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
Published in Journal of medical genetics (01-10-2002)“…Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene…”
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Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus
Published in Cytogenetic and genome research (01-01-2002)“…Mutations in the gene encoding seipin cause Berardinelli-Seip congenital lipodystrophy 2, with symptoms including near-absence of adipose tissue and altered…”
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CAD-23: Identification d'un nouveau rôle de la seipine dans l'adipocyte mature
Published in Diabetes & metabolism (01-03-2016)“…Introduction La lipodystrophie congénitale de Berardinelli-Seip (BSCL) est caractérisée par une absence généralisée de tissu adipeux et une lipotoxicité…”
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Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families
Published in Prenatal diagnosis (01-07-1997)“…Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and…”
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The development of hyperglycaemia in patients with insulin-resistant generalized lipoatrophic syndromes
Published in Diabetologia (01-12-1993)“…Insulin resistance is present in patients suffering from lipoatrophic syndromes long before the onset of diabetes mellitus. Thus, the decreased peripheral…”
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O03 Le FGF21 améliore le profil métabolique des souris lipodystrophiques Bscl2-
Published in Diabetes & metabolism (01-03-2015)“…Introduction Ces dix dernières années, le fibroblast growth factor 21 (FGF21) est devenu une cible pharmacologique des complications métaboliques associées à…”
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P2099 La pioglitazone améliore les complications métaboliques d’un modèle de souris lipodystrophiques déficientes en seipine (Bscl2-/-)
Published in Diabetes & metabolism (26-03-2013)“…Introduction La lipodystrophie congénitale généralisée de Berardinelli-Seip (BSCL) est caractérisée par une absence quasi totale de tissu adipeux et une…”
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O39 Les souris déficientes en seipine sont un nouveau modèle de cardiomyopathie diabétique
Published in Diabetes & metabolism (26-03-2013)“…Introduction La lipodystrophie congénitale de Berardinelli-Seip (BSCL) est un syndrome rare caractérisé par une absence généralisée de tissu adipeux et une…”
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Primary lipodystrophies
Published in Annales d'endocrinologie (01-02-2007)“…Primary lipodystrophies represent a heterogeneous group of very rare diseases with a prevalence of less than 1 case for 100.000, inherited or acquired,…”
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Human hormone-sensitive lipase : Genetic mapping, identification of a new dinucleotide repeat, and association with obesity and NIDDM
Published in Diabetes (New York, N.Y.) (01-02-1998)Get full text
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A new missense mutation in the calcium‐sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes
Published in Clinical endocrinology (Oxford) (01-09-2000)“…We studied two patients (a 54‐year‐old woman and her 16‐year‐old son) with familial benign hypocalciuric hypercalcaemia (FBHH) associated with severe insulin…”
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O33 Les souris déficientes en seipine sont lipoatrophiques, insulinorésistantes, mais hypotriglycéridemiques
Published in Diabetes & metabolism (01-03-2012)“…Introduction La lipodystrophie congénitale généralisée de Berardinelli-Seip (BSCL) est caractérisée par une absence de tissu adipeux et une insulino-résistance…”
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