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Article

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.

Development (Cambridge, England) - 1 Apr 2010

Huh Sung-Ho, Ornitz David M

Abstract excerpt

DiGeorge syndrome (DGS) is a common genetic disease characterized by pharyngeal apparatus malformations and defects in cardiovascular, craniofacial and glandular development. TBX1 is the most likely candidate disease-causing gene and is located within a 22q11.2 chromosomal deletion that is associated with most cases of DGS. Here, we show that canonical Wnt-beta-catenin signaling negatively regulates Tbx1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20215350
DOI: 10.1242/dev.045534
PMCID: PMC2835329

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.PMID 20215350Read ↗

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DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and DifferentiationSemantic proximity Read ↗

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