Associated Papers
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Caveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension.
Farrell R et al.
Pulmonary Circulation, 2022
Caveolin-1 rs1997623 variant and adult metabolic syndrome-Assessing the association in three ethnic cohorts of Arabs, South Asians and South East Asians.
Al Madhoun A et al.
Frontiers in Genetics, 2022
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN et al.
European Journal of Endocrinology, 2021
Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension.
Gairhe S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate L et al.
Nature Reviews. Cardiology, 2020
Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension.
Rathinasabapathy A et al.
Frontiers in Medicine, 2020
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
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
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
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
Genetics of pulmonary hypertension.
Best DH et al.
Current Opinion in Cardiology, 2014
The genetics of pulmonary arterial hypertension.
Austin ED et al.
Circulation Research, 2014
Novel inheritable caveolin-1 mutations in pulmonary arterial hypertension.
Desai AA
Circulation. Cardiovascular Genetics, 2012
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED et al.
Circulation. Cardiovascular Genetics, 2012
The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.
Machado RD
Scientifica, 2012