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

Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.

Human molecular genetics - 18 Aug 2024

Emanuelli Giulia, Zhu JiaYi, Li Wei, Morrell Nicholas W, Marciniak Stefan J

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a disorder with a large genetic component. Biallelic mutations of EIF2AK4, which encodes the kinase GCN2, are causal in two ultra-rare subtypes of PAH, pulmonary veno-occlusive disease and pulmonary capillary haemangiomatosis. EIF2AK4 variants of unknown significance have also been identified in patients with classical PAH, though their relationship to disease remains...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

Share to Mutation, Missense

Share to Protein Serine-Threonine Kinases

Share to Pulmonary Arterial Hypertension

Source

Open in PubMed Open full text

Identifiers

PMID: 38776952
DOI: 10.1093/hmg/ddae082
PMCID: PMC11336063

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

Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.PMID 38776952Read ↗

Functional validation of <i>EIF2AK4</i> (GCN2) missense variants associated with pulmonary arterial hypertensionSemantic proximity Read ↗

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.Semantic proximity Read ↗

The Unexpected Role of GCN2 Kinase Activation in Mediating Pulmonary Arterial HypertensionSemantic proximity Read ↗

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.Semantic proximity Read ↗

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.Semantic proximity Read ↗

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.Semantic proximity Read ↗

A GCN1-independent activator of the kinase GCN2Semantic proximity Read ↗

EIF2AK4 genetic mutations cause a recessive form of rare and deadly lung disease, pulmonary veno-occlusive disease.Semantic proximity Read ↗

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease.Semantic proximity Read ↗

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.Semantic proximity Read ↗

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.Semantic proximity Read ↗

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.Semantic proximity Read ↗

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