Associated Papers
Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.
Iqbal J et al.
Genes & Diseases, 2023
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN et al.
European Journal of Endocrinology, 2021
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
CAV1 regulates primordial follicle formation via the Notch2 signalling pathway and is associated with premature ovarian insufficiency in humans.
Huang K et al.
Human Reproduction (oxford, England), 2018
Aberrant caveolin-1-mediated Smad signaling and proliferation identified by analysis of adenine 474 deletion mutation (c.474delA) in patient fibroblasts: a new perspective on the mechanism of pulmonary hypertension.
Marsboom G et al.
Molecular Biology of the Cell, 2017
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
Han B et al.
Traffic (copenhagen, Denmark), 2016
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Garg A et al.
American Journal of Medical Genetics. Part A, 2015
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I et al.
Plos One, 2015
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K et al.
Bioscience Reports, 2014
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
Barra CB et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
Human lipodystrophies: genetic and acquired diseases of adipose tissue.
Capeau J et al.
Endocrine Development, 2010
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
Gomes KB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Kim CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Select a paper to view details