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Article

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

Human molecular genetics - 12 Jun 2000

Dixon J, Brakebusch C, Fässler R, Dixon M J

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of human craniofacial development that results from loss-of-function mutations in the gene TCOF1. Although this gene has been demonstrated to encode the nucleolar phosphoprotein treacle, the developmental mechanism underlying TCS remains elusive, particularly as expression studies have shown that the murine orthologue, Tcof1, is widely expressed....

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Source

Identifiers

PMID: 10888597
DOI: 10.1093/hmg/9.10.1473

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.PMID 10888597Read ↗

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

Fishing the molecular bases of Treacher Collins syndrome.Semantic proximity Read ↗

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

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

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.Semantic proximity Read ↗

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

Tcof1-Related Molecular Networks in Treacher Collins Syndrome.Semantic proximity Read ↗

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

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.Semantic proximity Read ↗

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

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