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Article

TBX1 is required for inner ear morphogenesis.

Human molecular genetics - 15 Aug 2003

Vitelli Francesca, Viola Antonella, Morishima Masae, Pramparo Tiziano, Baldini Antonio, Lindsay Elizabeth

Abstract excerpt

TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients. Here we show that homozygous mutation of the mouse homolog Tbx1 is a...

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Source

Identifiers

PMID: 12913075
DOI: 10.1093/hmg/ddg216

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12913075-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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TBX1 is required for inner ear morphogenesis.PMID 12913075Read ↗

Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development.Semantic proximity Read ↗

Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.Semantic proximity Read ↗

Tbx1 and Brn4regulate retinoic acid metabolic genes during cochlear morphogenesisSemantic proximity Read ↗

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells.Semantic proximity Read ↗

Canonical Wnt signaling modulates <i>Tbx1</i>, <i>Eya1</i>, and <i>Six1</i> expression, restricting neurogenesis in the otic vesicleSemantic proximity Read ↗

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

The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.Semantic proximity Read ↗

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

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageSemantic proximity Read ↗

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.Semantic proximity Read ↗

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.Semantic proximity Read ↗

Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis.Semantic proximity Read ↗

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