Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

American journal of human genetics - 1 Sept 2000

Deng Z, Morse J H, Slager S L, Cuervo N, Moore K J, Venetos G, Kalachikov S, Cayanis E, Fischer S G, Barst R J, Hodge S E, Knowles J A

Abstract excerpt

Familial primary pulmonary hypertension is a rare autosomal dominant disorder that has reduced penetrance and that has been mapped to a 3-cM region on chromosome 2q33 (locus PPH1). The phenotype is characterized by monoclonal plexiform lesions of proliferating endothelial cells in pulmonary arterioles. These lesions lead to elevated pulmonary-artery pressures, right-ventricular failure, and death. Although...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Morphogenetic Protein Receptors, Type II
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

Share to Introns

Share to Microsatellite Repeats

Share to Protein Serine-Threonine Kinases

Share to Sequence Alignment

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 10903931
DOI: 10.1086/303059
PMCID: PMC1287532

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.PMID 10903931Read ↗

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.Semantic proximity Read ↗

Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large KindredSemantic proximity Read ↗

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Semantic proximity Read ↗

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertensionSemantic proximity Read ↗

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

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

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.Semantic proximity Read ↗

Bone morphogenetic proteins, genetics and the pathophysiology of primary pulmonary hypertension.Semantic 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 ↗

Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertensionSemantic proximity Read ↗

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult casesSemantic proximity Read ↗

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.