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Article

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.

Human molecular genetics - 15 Apr 2002

Vitelli Francesca, Morishima Masae, Taddei Ilaria, Lindsay Elizabeth A, Baldini Antonio

Abstract excerpt

TBX1 is the major candidate gene for DiGeorge syndrome (DGS). Mouse studies have shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and that it is required for the development of pharyngeal arches and pouches, as predicted by the DGS clinical phenotype. However, a detailed analysis of the cardiovascular phenotype associated with Tbx1 mutations has not been reported. Here we show...

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Source

Identifiers

PMID: 11971873
DOI: 10.1093/hmg/11.8.915

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

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.PMID 11971873Read ↗

DiGeorge syndrome: an update.Semantic proximity Read ↗

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.Semantic proximity Read ↗

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

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

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

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants.Semantic proximity Read ↗

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

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

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

Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1.Semantic proximity Read ↗

Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.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 ↗

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