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

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American journal of medical genetics. Part A - 1 Jan 2023

Upton Paul, Richards Susan, Bates Angela, Niederhoffer Karen Y, Morrell Nicholas W, Christian Susan

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%) adult PAH cases. Only three pediatric PAH cases, harboring homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Proteins
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pulmonary Arterial Hypertension

Source

Open in PubMed Open full text

Identifiers

PMID: 36259599
DOI: 10.1002/ajmg.a.62996
PMCID: PMC10092753

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?PMID 36259599Read ↗

Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.Semantic proximity Read ↗

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.Semantic proximity Read ↗

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial HypertensionSemantic proximity Read ↗

Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.Semantic proximity Read ↗

Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.Semantic proximity Read ↗

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.Semantic proximity Read ↗

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.Semantic proximity Read ↗

BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.Semantic proximity Read ↗

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.Semantic proximity Read ↗

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

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case reportSemantic proximity Read ↗

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