Mapping Protein Distribution in the Canine Photoreceptor Sensory Cilium and Calyceal Processes by Ultrastructure Expansion Microscopy. [PDF]
Invest Ophthalmol Vis SciTakahashi K, Sudharsan R, Beltran WA.
europepmc +1 more source
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome. [PDF]
Hum GenomicsGarcía-Bohórquez B +8 more
europepmc +1 more source
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]
, 2019 Konstantinos Nikopoulos +27 more
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The bidirectional relationship between cilia and PCP signaling pathway core protein Vangl2. [PDF]
Sci ProgQin H, Liang T, Zhang C, Wu J, Sheng X.
europepmc +1 more source
Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis [PDF]
, 2019 Yoon Seon Oh +5 more
openalex +1 more source
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification. [PDF]
Nat CommunWiegering A +12 more
europepmc +1 more source
Methods to Assess Neuronal Primary Cilia Electrochemical Signaling. [PDF]
J Cell PhysiolDeCaen PG, Kimura LF.
europepmc +1 more source
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
, 2017 Sheila Castro‐Sánchez +5 more
openalex +2 more sources
ciBAR1 loss in mice causes laterality defects, pancreatic degeneration, and altered glucose tolerance. [PDF]
Life Sci AllianceKim EN, Li FQ, Takemaru KI.
europepmc +1 more source
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. [PDF]
NPJ Genom MedSangermano R +18 more
europepmc +1 more source