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

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2005

Cogan Joy D, Vnencak-Jones Cindy L, Phillips John A, Lane Kirk B, Wheeler Lisa A, Robbins Ivan M, Garrison Gladys, Hedges Lora K, Loyd James E

Abstract excerpt

PURPOSE: Approximately 50% of patients with familial primary pulmonary hypertension (FPPH) have been reported to have mutations within the bone morphogenic protein receptor type 2 (BMPR2) gene. The vast majority of these mutations were identified by PCR amplification and sequencing of individual...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Hypertension, Pulmonary

Share to Protein Serine-Threonine Kinases

Share to Receptors, Cell Surface

Share to Recombination, Genetic

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 15775752
DOI: 10.1097/01.gim.0000156525.09595.e9

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15775752-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.PMID 15775752Read ↗

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.Semantic 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 ↗

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 ↗

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

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

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.Semantic proximity Read ↗

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.Semantic proximity Read ↗

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

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

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

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

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

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