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Article

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

BMC medical genetics - 14 Dec 2009

Masotti Cibele, Ornelas Camila C, Splendore-Gordonos Alessandra, Moura Ricardo, Félix Têmis M, Alonso Nivaldo, Camargo Anamaria A, Passos-Bueno Maria Rita

Abstract excerpt

BACKGROUND: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). H...

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Source

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Identifiers

PMID: 20003452
DOI: 10.1186/1471-2350-10-136
PMCID: PMC2801500

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20003452-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.PMID 20003452Read ↗

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

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.Semantic proximity Read ↗

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.Semantic proximity Read ↗

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.Semantic proximity Read ↗

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

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