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

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

The Israel Medical Association journal : IMAJ - 1 Mar 2004

Cahn Avivit, Meiner Vardiella, Leitersdorf Eran, Berkman Neville

Abstract excerpt

BACKGROUND: Primary pulmonary hypertension is a rare disorder, characterized by progressive pulmonary hypertension and right heart failure. It may be familial or sporadic. Mutations in bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor-beta receptor superfamily of receptors, underlie many cases of the disorder. OBJECTIVES: To perform molecular analysis of a patient with...

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 Genetic Counseling

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hypertension, Pulmonary

Share to Israel

Share to Mutation, Missense

Share to Prognosis

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 15055271

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.PMID 15055271Read ↗

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

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

Insights into the genetic and molecular basis 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 ↗

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

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.Semantic proximity Read ↗

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.Semantic proximity Read ↗

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

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.Semantic proximity Read ↗

The Genetics of Pulmonary Arterial Hypertension in the <i>Post‐BMPR2</i> EraSemantic proximity Read ↗

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

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