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The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome

1 Mar 2021

Abstract excerpt

The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by TCOF1...

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Cancer-related Molecular Pathways
DNA Repair Mechanisms
RNA modifications and cancer

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33804586
DOI: 10.3390/ijms22052482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins SyndromePMID 33804586Read ↗

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Treacle Sticks the Nucleolar Responses to DNA Damage TogetherSemantic proximity Read ↗

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

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The roles of FLOT1 in human diseases (Review)Semantic proximity Read ↗

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

A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins SyndromeSemantic proximity Read ↗

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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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