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6 Hits
Search Condition : Filter (MeSH = Abnormalities, Multiple)
Species
Resource
RRC ID
Title
Journal
Published
Link
C.elegans
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
Mice
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
Human and Animal Cells
409B2(HPS0076)
67088
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Autophagy
2022-2-1
Pubmed
Full text
C.elegans
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
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