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Treacher Collins syndrome

1 May 2007

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre-ribosomal processing and ribosomal biogenesis. In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death...

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PMID: 17552945
DOI: 10.1111/j.1601-6343.2007.00388.x

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Related research

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Research trail→

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Treacher Collins syndromePMID 17552945Read ↗

Treacher Collins syndrome: etiology, pathogenesis and prevention.Semantic proximity Read ↗

<i>Tcof1</i> /Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalitiesSemantic proximity Read ↗

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Treacher Collins Syndrome: the genetics of a craniofacial disease.Semantic proximity Read ↗

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Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.Semantic proximity Read ↗

Treacher Collins Syndrome: Genetics, Clinical Features and ManagementSemantic proximity Read ↗

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.Semantic proximity Read ↗

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.Semantic proximity Read ↗

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.Semantic proximity Read ↗

The Treacher Collins syndrome ( <i>TCOF1</i> ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorSemantic proximity Read ↗

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