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Article

Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers.

Cell stem cell - 6 Apr 2017

Gu Mingxia, Shao Ning-Yi, Sa Silin, Li Dan, Termglinchan Vittavat, Ameen Mohamed, Karakikes Ioannis, Sosa Gustavo, Grubert Fabian, Lee Jaecheol, Cao Aiqin, Taylor Shalina, Ma Yu, Zhao Zhixin, Chappell James, Hamid Rizwan, Austin Eric D, Gold Joseph D, Wu Joseph C, Snyder Michael P, Rabinovitch Marlene

Abstract excerpt

In familial pulmonary arterial hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is only 20% penetrant, suggesting that genetic variation provides modifiers that alleviate the disease. Here, we used comparison of induced pluripotent stem cell-derived endothelial cells (iPSC-ECs) from three families with unaffected mutation carriers (UMCs), FPAH patients, and gender-matched controls to...

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Share to Bone Morphogenetic Protein 4
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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: 28017794
DOI: 10.1016/j.stem.2016.08.019
PMCID: PMC5500296

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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