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

The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.

Cardiovascular research - 1 Dec 2017

Firulli Beth A, Toolan Kevin P, Harkin Jade, Millar Hannah, Pineda Santiago, Firulli Anthony B

Abstract excerpt

AIMS: To test if a human Hand1 frame shift mutation identified in human samples is causative of hypoplastic left heart syndrome (HLHS). METHODS AND RESULTS: HLHS is a poorly understood single ventricle congenital heart defect that affects two to three infants in every 10 000 live births. The aetiologies of HLHS are largely unknown. The basic helix-loop-helix transcription factor HAND1 is required for normal heart...

Read the complete abstract on PubMed

Topics

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

Share to Basic Helix-Loop-Helix Transcription Factors
Share to Heart

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Mice, Transgenic

Share to Mutation

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29016838
DOI: 10.1093/cvr/cvx166
PMCID: PMC5852545

Genes

HAND1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.PMID 29016838Read ↗

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human heartsSemantic proximity Read ↗

A functional genetic study identifies HAND1 mutations in septation defects of the human heart.Semantic proximity Read ↗

HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle.Semantic proximity Read ↗

Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.Semantic proximity Read ↗

Analysis of a Hand1 hypomorphic allele reveals a critical threshold for embryonic viability.Semantic proximity Read ↗

HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy.Semantic proximity Read ↗

Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.Semantic proximity Read ↗

The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner.Semantic proximity Read ↗

Variation in a Left Ventricle–Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and FunctionSemantic proximity Read ↗

Conditional Mutation of Hand1 in the Mouse Placenta Disrupts Placental Vascular Development Resulting in Fetal Loss in Both Early and Late PregnancySemantic proximity Read ↗

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.Semantic proximity Read ↗

Two novel HAND1 mutations in Chinese patients with ventricular septal defect.Semantic proximity Read ↗

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