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Article

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Pediatric cardiology - 1 Apr 2010

Scambler Peter J

Abstract excerpt

Tbx1 is a member of the Tbox family of binding domain transcription factors. TBX1 maps within the region of 22q11 deleted in humans with DiGeorge or velocardiofacial syndrome. Mice haploinsufficient for Tbx1 have phenotypes that recapitulate major features of the syndrome, notably abnormal growth and remodelling of the pharyngeal arch arteries. The Tbx1 haploinsufficiency phenotype is modified by genetic...

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Source

Identifiers

PMID: 20054531
DOI: 10.1007/s00246-009-9613-0

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.PMID 20054531Read ↗

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.Semantic proximity Read ↗

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.Semantic proximity Read ↗

Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.Semantic proximity Read ↗

Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesisSemantic proximity Read ↗

Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.Semantic proximity Read ↗

<i>Tbx1</i>expression in pharyngeal epithelia is necessary for pharyngeal arch artery developmentSemantic proximity Read ↗

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndromeSemantic proximity Read ↗

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.Semantic proximity Read ↗

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.Semantic proximity Read ↗

Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.Semantic proximity Read ↗

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.Semantic proximity Read ↗

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndromeSemantic proximity Read ↗

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