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

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

31 Jul 2021

Abstract excerpt

BACKGROUND: TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both mice and humans results in congenital cardiac malformations, little has been elucidated about its upstream regulation. We aimed to explore the transcriptional regulation and dysregulation of...

Read the complete abstract on PubMed

Topics

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

Share to Cardiovascular Conditions and Treatments
Share to Congenital heart defects research
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34332615
DOI: 10.1186/s13023-021-01981-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivationPMID 34332615Read ↗

Upregulation of TBX1 by genetic variants are associated with human congenital heart diseaseSemantic proximity Read ↗

Transrepression activity of T-box1 in a gene regulation network in mouse cells.Semantic proximity Read ↗

Regulatory mutants of the <i>Tbx1</i> gene alter transcription programs of lineage determination and patterning in early mesodermSemantic proximity Read ↗

Tbx1: Transcriptional and Developmental Functions.Semantic proximity Read ↗

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSSemantic proximity Read ↗

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.Semantic proximity Read ↗

Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.Semantic proximity Read ↗

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart diseaseSemantic proximity Read ↗

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.Semantic proximity Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Semantic proximity Read ↗

Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.Semantic proximity Read ↗

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