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

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

27 Apr 2012

Abstract excerpt

Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22543974
DOI: 10.1093/hmg/dds165

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

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart diseasePMID 22543974Read ↗

Genome-wide compendium and functional assessment of in vivo heart enhancers.Semantic proximity Read ↗

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.Semantic proximity Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.Semantic proximity Read ↗

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.Semantic proximity Read ↗

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndromeSemantic proximity Read ↗

TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).Semantic proximity Read ↗

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.Semantic proximity Read ↗

Current advances in Holt-Oram syndrome.Semantic proximity Read ↗

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.Semantic proximity Read ↗

TBX5 and CHD4 Coordinately Activate Atrial Cardiomyocyte Genes to Maintain Cardiac Rhythm HomeostasisSemantic proximity Read ↗

CHD-associated enhancers shape human cardiomyocyte lineage commitmentSemantic proximity Read ↗

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