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Article

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

1 Sept 2000

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Share to Congenital heart defects research
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Share to TGF-β signaling in diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 10973254
DOI: 10.1038/79226

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Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertensionPMID 10973254Read ↗

Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein tùype II receptorSemantic proximity Read ↗

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β familySemantic proximity Read ↗

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.Semantic proximity Read ↗

Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary.Semantic proximity Read ↗

[Pulmonary hypertension: pathophysiology, genetics and functional genomics].Semantic proximity Read ↗

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.Semantic proximity Read ↗

[Mutations of genes coding for TGF-beta receptors (BMPR2 and ALK-1) in primary pulmonary arterial hypertension].Semantic proximity Read ↗

Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next-generation sequencing.Semantic proximity Read ↗

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Insights into the genetic and molecular basis of primary pulmonary hypertension.Semantic proximity Read ↗

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.Semantic proximity Read ↗

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.Semantic proximity Read ↗

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