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Article

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

Human molecular genetics - 1 Oct 1998

Marsh K L, Dixon J, Dixon M J

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS gene ( TCOF1 ), which is localized to chromosome 5q32-q33.1, recently has been identified by positional cloning. Analysis of TCOF1 revealed that the majority of TCS mutations result in the creation of a premature termination codon. The...

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Source

Identifiers

PMID: 9736782
DOI: 10.1093/hmg/7.11.1795

Genes

TCOF1

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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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.PMID 9736782Read ↗

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 ↗

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

Treacher Collins syndromeSemantic proximity Read ↗

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

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins SyndromeSemantic proximity Read ↗

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.Semantic proximity Read ↗

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.Semantic proximity Read ↗

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneSemantic proximity Read ↗

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

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.Semantic proximity Read ↗

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