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5 Hits
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