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Article

Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation - 1 Feb 2010

Rodriguez-Murillo Laura, Subaran Ryan, Stewart William C L, Pramanik Sreemanta, Marathe Sudhir, Barst Robyn J, Chung Wendy K, Greenberg David A

Abstract excerpt

BACKGROUND: Familial pulmonary arterial hypertension (FPAH) is a rare, autosomal-dominant, inherited disease with low penetrance. Mutations in the bone morphogenetic protein receptor 2 (BMPR2) have been identified in at least 70% of FPAH patients. However, the lifetime penetrance of these BMPR2 mutations is 10% to 20%, suggesting that genetic and/or environmental modifiers are required for disease expression. Our...

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Share to Bone Morphogenetic Protein Receptors, Type II
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19864167
DOI: 10.1016/j.healun.2009.08.022
PMCID: PMC2815041

Genes

BMPR2

Provenance

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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