排序方式: 共有83条查询结果,搜索用时 15 毫秒
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Panizzi JR Becker-Heck A Castleman VH Al-Mutairi DA Liu Y Loges NT Pathak N Austin-Tse C Sheridan E Schmidts M Olbrich H Werner C Häffner K Hellman N Chodhari R Gupta A Kramer-Zucker A Olale F Burdine RD Schier AF O'Callaghan C Chung EM Reinhardt R Mitchison HM King SM Omran H Drummond IA 《Nature genetics》2012,44(6):714-719
Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to be identified for several PCD-linked loci. Here we show that the zebrafish cilia paralysis mutant schmalhans (smh(tn222)) encodes the coiled-coil domain containing 103 protein (Ccdc103), a foxj1a-regulated gene product. Screening 146 unrelated PCD families identified individuals in six families with reduced outer dynein arms who carried mutations in CCDC103. Dynein arm assembly in smh mutant zebrafish was rescued by wild-type but not mutant human CCDC103. Chlamydomonas Ccdc103/Pr46b functions as a tightly bound, axoneme-associated protein. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 相似文献
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CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members 总被引:1,自引:0,他引:1
Trompouki E Hatzivassiliou E Tsichritzis T Farmer H Ashworth A Mosialos G 《Nature》2003,424(6950):793-796
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Hannah Gay 《Studies in history and philosophy of science》1976,7(1):1-51
Research programmes associated with two nineteenth-century chemical theories, Radical Theory and the Theory of Types are discussed. The purpose is to examine in a very general way how well the methodologies of Popper and Lakatos can account for the development of these programmes. The chemical discussion is prefaced by a critical comparison of certain aspects of the two above-mentioned philosophies. 相似文献