Article

Analysis of Treacher Collins syndrome 4-associated mutations in <i>Schizosaccharomyces pombe</i>

2025-04-13

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 by which these mutations exert their effects remain poorly understood. In this study, we established Schizosaccharomyces pombe models for TCS type 4 (TCS4) by introducing spec...

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Literature Corpus work: 92bfa3f5-6fbc-554f-9ad2-927da20d4e7a
DOI: 10.1101/2025.04.13.648503

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