Familial partial lipodystrophy syndromes.
Sign Up to like & getrecommendations! Published in 2021 at "Presse medicale"
DOI: 10.1016/j.lpm.2021.104071
Abstract: Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due… read more here.
Keywords: familial partial; lipodystrophy syndromes; lipodystrophy; fpld ... See more keywords
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects
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DOI: 10.1080/19491034.2018.1509659
Abstract: ABSTRACT Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the… read more here.
Keywords: polycystic ovary; familial partial; lipodystrophy; ovary syndrome ... See more keywords
Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2
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DOI: 10.1111/cen.13984
Abstract: Familial partial lipodystrophy type 2 (FPLD2) is characterized by insulin resistance, adipose atrophy of the extremities and central obesity. Due to the resemblance with Cushing's syndrome, we hypothesized a putative role of glucocorticoid in the… read more here.
Keywords: partial lipodystrophy; familial partial; lipodystrophy type; phenotypic diversity ... See more keywords
Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study
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DOI: 10.1186/s12944-021-01589-4
Abstract: Background Familial partial lipodystrophy (FPLD) is a rare disease characterized by selective loss of peripheral subcutaneous fat, associated with dyslipidemia and diabetes mellitus. Reductions in circulating levels of ANGPTL3 are associated with lower triglyceride and… read more here.
Keywords: partial lipodystrophy; angptl3 vupanorsen; treatment; familial partial ... See more keywords
Inhibition of Angiopoietin-Like 3 (ANGPTL3) Reduces Adipose Tissue Insulin Resistance in Patients With Familial Partial Lipodystrophy
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DOI: 10.1210/jendso/bvab048.100
Abstract: Abstract Familial partial lipodystrophy (FPLD) is a rare disease characterized by selective loss of peripheral subcutaneous fat, usually affecting the trunk and limbs, but preservation in other areas, such as the face and neck. It… read more here.
Keywords: patients fpld; tissue insulin; angptl3; familial partial ... See more keywords
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
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DOI: 10.1210/jendso/bvac155
Abstract: Abstract Context Despite several reports of familial partial lipodystrophy (FPLD) type 2 (FPLD2) due to heterozygous LMNA variants and FPLD3 due to PPARG variants, the phenotypic differences among them remain unclear. Objective To compare the… read more here.
Keywords: familial partial; partial lipodystrophy; phenotypic differences; lipodystrophy ... See more keywords
SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
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DOI: 10.1210/js.2019-sun-037
Abstract: Abstract Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift variants of PLIN1 gene. This gene encodes perilipin 1, a protein playing a key role in the structure… read more here.
Keywords: diagnosis; type familial; partial lipodystrophic; lipodystrophic syndrome ... See more keywords
Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation.
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DOI: 10.1507/endocrj.ej22-0140
Abstract: Familial partial lipodystrophy (FPLD) 3 is a rare genetic disorder caused by peroxisome proliferator-activated receptor γ gene (PPARG) mutations. Most cases have been reported in Western patients. Here, we describe a first pedigree of FPLD… read more here.
Keywords: familial partial; partial lipodystrophy; peroxisome proliferator; proliferator activated ... See more keywords
Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance
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DOI: 10.3389/fendo.2021.684182
Abstract: Background Familial partial lipodystrophy type 3 (FPLD3) is a very rare autosomal dominant genetic disorder which is caused by mutations in the peroxisome proliferator activated receptor gamma (PPARG) gene. It is characterized by a partial… read more here.
Keywords: treatment; familial partial; case; lipodystrophy type ... See more keywords
Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient
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DOI: 10.3389/fendo.2022.830708
Abstract: Purpose Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disease. Patients typically present with loss of adipose tissue and metabolic complications. Here, we reported a Chinese FPLD3 patient with a novel PPARG gene… read more here.
Keywords: patient; case; partial lipodystrophy; lipodystrophy type ... See more keywords
Cellular Metabolism and Bioenergetic Function in Human Fibroblasts and Preadipocytes of Type 2 Familial Partial Lipodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158659
Abstract: LMNA mutation is associated with type-2 familial partial lipodystrophy (FPLD2). The disease causes a disorder characterized by anomalous accumulation of body fat in humans. The dysfunction at the molecular level is triggered by a lamin… read more here.
Keywords: familial partial; metabolism; partial lipodystrophy; fibroblasts preadipocytes ... See more keywords