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Article

Analysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.

FEBS open bio - 1 Mar 2026

Kawakami Kei, Kato Hiroaki

Abstract excerpt

Treacher Collins syndrome (TCS) is a rare congenital disorder characterized by craniofacial deformities. Although mutations in several genes involved in ribosome biogenesis have been identified in patients with TCS, the molecular mechanisms underlying their effects remain poorly understood. In this study, we analyzed the effects of TCS type 4 (TCS4)-associated mutations in Schizosaccharomyces pombe by introducing...

Topics

Schizosaccharomyces
Mandibulofacial Dysostosis
Mutation
Schizosaccharomyces pombe Proteins
RNA Polymerase I

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41542823
DOI: 10.1002/2211-5463.70152

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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