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

Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension.

Proceedings of the American Thoracic Society - 1 Nov 2010

Li Wei, Dunmore Benjamin J, Morrell Nicholas W

Abstract excerpt

More than 70% of cases of heritable pulmonary arterial hypertension are due to heterozygous germline mutations in the gene encoding the bone morphogenetic protein type II receptor (BMPR-II), a receptor for the transforming growth factor-β/BMP superfamily. Among the many mutations identified, some involve substitution of cysteine residues in the ligand-binding domain or the kinase domains of BMPR-II. These mutants...

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 Familial Primary Pulmonary Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Hypertension, Pulmonary

Share to Mutation

Share to Protein Transport

Share to Proteostasis Deficiencies

Share to Signal Transduction

Source

Identifiers

PMID: 21030519
DOI: 10.1513/pats.201002-024AW

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension.PMID 21030519Read ↗

Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension.Semantic proximity Read ↗

Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension.Semantic proximity Read ↗

4PBA Restores Signaling of a Cysteine-substituted Mutant BMPR2 Receptor Found in Patients with Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.Semantic proximity Read ↗

Trapping of BMP receptors in distinct membrane domains inhibits their function in pulmonary arterial hypertension.Semantic proximity Read ↗

Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertensionSemantic proximity Read ↗

Mutations of the TGF-beta type II receptor BMPR2 in 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 ↗

G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.Semantic proximity Read ↗

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.Semantic proximity Read ↗

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertensionSemantic 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.