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  • 検索条件 : 絞込み (MeSH = Abnormalities, Multiple)
生物種 リソース名 RRC ID タイトル ジャーナル 公開日 外部リンク オルトメトリクス指標
線虫 tm324 88138 Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin. Proc Natl Acad Sci U S A 2025-11-25 Pubmed Full text
実験動物マウス RBRC00165 81878 ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Am J Hum Genet 2024-10-3 Pubmed Full text
ヒト・動物細胞 409B2(HPS0076) 67088 Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders. Autophagy 2022-2-1 Pubmed Full text
線虫 53507 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 2015-8-1 Pubmed Full text
線虫 tm2452 , tm3100 , tm2547 , tm925 46123 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet 2011-12-9 Pubmed Full text
線虫 tm2322 , tm324 , tm3100 , tm2452 , tm925 45941 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet 2013-1-1 Pubmed Full text
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