Associated Papers
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN et al.
European Journal of Endocrinology, 2021
Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate L et al.
Nature Reviews. Cardiology, 2020
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N et al.
Circulation. Genomic and Precision Medicine, 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
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
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