198-LB: A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) Gene in a Woman with Familial Partial Lipodystrophy

Background: The nuclear peroxisome proliferator-activated receptor gamma (PPAR-γ) plays a role in the regulation of glucose and lipid metabolism in adipocytes by regulating their differentiation, distribution and function. Heterogeneous mutations of PPAR-γ can cause loss of gene function or reduce i...

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Veröffentlicht in:	Diabetes (New York, N.Y.) N.Y.), 2021-06, Vol.70 (Supplement_1)
Hauptverfasser:	WANDERLEY, PATRÍCIA V., DIAS, JOAO C., VIEIRA, MARTA W., GARCIA, GIANE, FILHO, ITUO T., CHAMMA, RAYSSA F., GUGONI, LILIAN S., GIORGI, RAFAEL B., BARCELLOS, CRISTIANO R.G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acanthosis nigricans Adipocytes Amino acid substitution Autosomal dominant inheritance Body fat Computed tomography Computer programs Diabetes Diabetes mellitus Endocrinology Fatty liver Glucose metabolism Heredity Hypertriglyceridemia Hypertrophy Insulin Insulin resistance Lipid metabolism Lipodystrophy Liver diseases Mutation Pancreatitis Pathogenicity Peroxisome proliferator-activated receptors Phenotypes Polycystic ovary syndrome Proline Splenomegaly Steatosis Womens health Xanthoma
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