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

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Human mutation - 1 Jun 2004

Morisaki Hiroko, Nakanishi Norifumi, Kyotani Shingo, Takashima Atsushi, Tomoike Hitonobu, Morisaki Takayuki

Abstract excerpt

Primary pulmonary hypertension (PPH) is a potentially lethal disorder, in which heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR2) gene (BMPR2) have been identified. We conducted a molecular study of BMPR2 mutations in 4 Japanese families with familial PPH and 30 Japanese patients with sporadic PPH, and found 13 different mutations, of which 10 were novel, including missense...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hypertension, Pulmonary

Share to Mutation

Share to Polymorphism, Genetic

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 15146475
DOI: 10.1002/humu.9251

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

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.PMID 15146475Read ↗

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial 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 ↗

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

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.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 ↗

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.Semantic proximity Read ↗

A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.Semantic proximity Read ↗

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

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

Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.Semantic proximity Read ↗

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 ↗

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