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.

Glenn Marsboom,Zhenlong Chen,Yang Yuan,Yanmin Zhang,Chinnaswamy Tiruppathi,James E. Loyd,Eric D. Austin,Roberto F. Machado,Richard D. Minshall,Jalees Rehman,Asrar B. Malik

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.

2017

Glenn Marsboom
Zhenlong Chen
Yang Yuan
Yanmin Zhang
Chinnaswamy Tiruppathi
James E. Loyd
Eric D. Austin
Roberto F. Machado
Richard D. Minshall
Jalees Rehman
Asrar B. Malik

A heterozygous Caveolin-1 c.474delA mutation has been identified in a family with heritable pulmonary arterial hypertension (PAH). This frameshift mutation leads to caveolin-1 protein that contains...

Keywords:

Molecular biology
SMAD
Pulmonary hypertension
Caveolin 1
Mutation
Biology
Caveolae
Frameshift mutation
Cell growth
Phosphorylation

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