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

ALDH1A2 (RALDH2) genetic variation in human congenital heart disease.

BMC medical genetics - 3 Nov 2009

Pavan Marilene, Ruiz Viviane F, Silva Fábio A, Sobreira Tiago J, Cravo Roberta M, Vasconcelos Michelle, Marques Lívia P, Mesquita Sonia M F, Krieger José E, Lopes Antônio A B, Oliveira Paulo S, Pereira Alexandre C, Xavier-Neto José

Abstract excerpt

BACKGROUND: Signaling by the vitamin A-derived morphogen retinoic acid (RA) is required at multiple steps of cardiac development. Since conversion of retinaldehyde to RA by retinaldehyde dehydrogenase type II (ALDH1A2, a.k.a RALDH2) is critical for cardiac development, we screened patients with congenital heart disease (CHDs) for genetic variation at the ALDH1A2 locus. METHODS: One-hundred and thirty-three CHD...

Read the complete abstract on PubMed

Topics

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

Share to Aldehyde Dehydrogenase 1 Family
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Linkage Disequilibrium

Share to Protein Folding

Share to Retinal Dehydrogenase

Share to Tetralogy of Fallot

Source

Open in PubMed Open full text

Identifiers

PMID: 19886994
DOI: 10.1186/1471-2350-10-113
PMCID: PMC2779186

Genes

ALDH2

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 · 11 closest

ALDH1A2 (RALDH2) genetic variation in human congenital heart disease.PMID 19886994Read ↗

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defectsSemantic proximity Read ↗

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Semantic proximity Read ↗

ALDH1A2‐related disorder: A new genetic syndrome due to alteration of the retinoic acid pathwaySemantic proximity Read ↗

Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children.Semantic proximity Read ↗

Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.Semantic proximity Read ↗

Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses.Semantic proximity Read ↗

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.Semantic proximity Read ↗

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.Semantic proximity Read ↗

A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.Semantic proximity Read ↗

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.Semantic proximity Read ↗

HIRA Gene is Lower Expressed in the Myocardium of Patients with Tetralogy of Fallot.Semantic proximity Read ↗

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