{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kucukvardar S"],"funding":["Istanbul Teknik Üniversitesi","Türkiye Bilimsel ve Teknolojik Araştırma Kurumu"],"pagination":["dmm052409"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12421802"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["18(8)"],"pubmed_abstract":["The importance of microtubule stability and microtubule-associated proteins in the etiology of Shwachman-Diamond syndrome (SDS) has been highlighted in recent studies. In one patient with SDS, a novel MAP7D1:c.601C>T, p.R201W variant has been identified. In this study, the causality of this variant in the pathogenesis of SDS was investigated. Mutation in the microtubule-binding domain of MAP7D1 caused disruption of its interaction with microtubules. SDS fibroblasts exhibited a decreased cell size with reduced microtubule density, and mitotic defects, including multipolar or bipolar unstable spindles, lagging chromosomes, and shortened inter-centrosomal distance. Additionally, ribosomal protein S14 (RPS14) accumulated within incorrectly dividing SDS fibroblasts. To further evaluate whether "],"journal":["Disease models & mechanisms"],"pubmed_title":["A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells."],"pmcid":["PMC12421802"],"funding_grant_id":["121Z610"],"pubmed_authors":["Karabay A","Kucukvardar S"],"additional_accession":[]},"is_claimable":false,"name":"A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.","description":"The importance of microtubule stability and microtubule-associated proteins in the etiology of Shwachman-Diamond syndrome (SDS) has been highlighted in recent studies. In one patient with SDS, a novel MAP7D1:c.601C>T, p.R201W variant has been identified. In this study, the causality of this variant in the pathogenesis of SDS was investigated. Mutation in the microtubule-binding domain of MAP7D1 caused disruption of its interaction with microtubules. SDS fibroblasts exhibited a decreased cell size with reduced microtubule density, and mitotic defects, including multipolar or bipolar unstable spindles, lagging chromosomes, and shortened inter-centrosomal distance. Additionally, ribosomal protein S14 (RPS14) accumulated within incorrectly dividing SDS fibroblasts. To further evaluate whether ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-06-02T20:25:57.151Z","creation":"2026-04-20T03:10:07.942Z"},"accession":"S-EPMC12421802","cross_references":{"pubmed":["40856631"],"doi":["10.1242/dmm.052409"]}}