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Article

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

Human molecular genetics - 15 May 2006

Arnold Jelena S, Braunstein Evan M, Ohyama Takahiro, Groves Andrew K, Adams Joe C, Brown M Christian, Morrow Bernice E

Abstract excerpt

Most 22q11.2 deletion syndrome (22q11DS) patients have middle and outer ear anomalies, whereas some have inner ear malformations. Tbx1, a gene hemizygously deleted in 22q11DS patients and required for ear development, is expressed in multiple tissues during embryogenesis. To determine the role of Tbx1 in the first pharyngeal pouch (PPI) in forming outer and middle ears, we tissue-specifically inactivated the gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Expression Regulation, Developmental

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Identifiers

PMID: 16600992
DOI: 10.1093/hmg/ddl084
PMCID: PMC2563157

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Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.PMID 16600992Read ↗

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

TBX1 is required for inner ear morphogenesis.Semantic proximity Read ↗

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

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

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndromeSemantic proximity Read ↗

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

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

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

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

Otx1 and Otx2 activities are required for the normal development of the mouse inner ear.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 ↗

Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.Semantic proximity Read ↗

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