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Reference Patent

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  • Search Condition : Filter (MeSH = Eye Abnormalities / genetics*)
Species Resource RRC ID Title Journal Published Link
C.elegans tm2452 , tm925 65370 Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Dis Model Mech 2021-1-1 Pubmed Full text
C.elegans tm4314 53537 Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT). PLoS Genet 2016-8-1 Pubmed Full text
C.elegans 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
C.elegans 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
Human and Animal Cells COS-7(RCB0539) , 293(RCB1637) 36953 The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification. Nat Commun 2015-3-26 Pubmed Full text
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