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

Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance.

American journal of respiratory cell and molecular biology - 1 Jul 2012

Flynn Charles, Zheng Siyuan, Yan Ling, Hedges Lora, Womack Bethany, Fessel Josh, Cogan Joy, Austin Eric, Loyd James, West James, Zhao Zhongming, Hamid Rizwan

Abstract excerpt

The molecular mechanisms underlying the reduced penetrance seen in the nonsense-mediated decay-positive (NMD+) BMPR2 mutation-associated hereditary pulmonary arterial hypertension (HPAH) remain unknown. We reasoned that the cellular and genetic mechanisms behind this phenomenon could be uncovered by combining expression profiling with Connectivity Map (cMap) analysis. Cultured lymphocytes from 10 patients 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 Cell Cycle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Primary Pulmonary Hypertension

Share to Hypertension, Pulmonary

Share to Lymphocytes

Share to Penetrance

Share to Reactive Oxygen Species

Source

Open in PubMed Open full text

Identifiers

PMID: 22312021
DOI: 10.1165/rcmb.2011-0251OC
PMCID: PMC3402799

Genes

BMPR2
PAH

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

Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance.PMID 22312021Read ↗

Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetranceSemantic proximity Read ↗

Single-Cell Study of Two Rat Models of Pulmonary Arterial Hypertension Reveals Connections to Human Pathobiology and Drug RepositioningSemantic proximity Read ↗

GermlineBMP9mutation causes idiopathic pulmonary arterial hypertensionSemantic proximity Read ↗

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.Semantic proximity Read ↗

Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical OutcomeSemantic proximity Read ↗

iPSC–endothelial cell phenotypic drug screening and in silico analyses identify tyrphostin-AG1296 for pulmonary arterial hypertensionSemantic proximity Read ↗

Idiopathic and Heritable PAH Perturb Common Molecular Pathways, Correlated with Increased MSX1 ExpressionSemantic proximity Read ↗

Effective treatments for PAH will require detailed knowledge of molecular aetiology.Semantic proximity Read ↗

Breast Cancer Reveals Latent BMPR2-Related Susceptibility to Pulmonary Hypertension.Semantic proximity Read ↗

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

Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertensionSemantic proximity Read ↗

HNRNPA2B1: RNA-Binding Protein That Orchestrates Smooth Muscle Cell Phenotype in Pulmonary Arterial Hypertension.Semantic proximity Read ↗

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