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Article

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2008

Phillips John A, Poling Justin S, Phillips Charles A, Stanton Krista C, Austin Eric D, Cogan Joy D, Wheeler Lisa, Yu Chang, Newman John H, Dietz Harry C, Loyd James E

Abstract excerpt

PURPOSE: We hypothesized that functional TGFbeta1 SNPs increase TGFbeta/BMP signaling imbalance in BMPR2 mutation heterozygotes to accelerate the age at diagnosis, increase the penetrance and SMAD2 expression in familial pulmonary arterial hypertension. METHODS: Single nucleotide polymorphism genotypes of BMPR2 mutation heterozygotes, age at diagnosis, and penetrance of familial pulmonary arterial hypertension...

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Share to Age Factors
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hypertension, Pulmonary

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Share to Transforming Growth Factor beta1

Source

Identifiers

PMID: 18496036
DOI: 10.1097/GIM.0b013e318172dcdf

Genes

BMPR2
SMAD2

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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