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Article

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Genome medicine - 14 Nov 2019

Zhu Na, Pauciulo Michael W, Welch Carrie L, Lutz Katie A, Coleman Anna W, Gonzaga-Jauregui Claudia, Wang Jiayao, Grimes Joseph M, Martin Lisa J, He Hua, Shen Yufeng, Chung Wendy K, Nichols William C

Abstract excerpt

BACKGROUND: Group 1 pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary arterioles leads to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. Mutations in bone morphogenetic protein receptor type 2 and other risk genes predispose to disease, but the vast majority of non-familial cases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31727138
DOI: 10.1186/s13073-019-0685-z
PMCID: PMC6857288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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