Associated Papers
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S3_CEP164_reported_phenotypes.xlsx › Sheet1
A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.
Liu L et al.
Pediatric Investigation, 2023
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA et al.
Clinical Genetics, 2023
36273371 (PubMed )
Supplement: CGE-103-330-s002.docx
Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT).
Reed M et al.
Plos Genetics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
Rosa E Silva I et al.
Structure (london, England : 1993), 2022
How CEP164 ciliopathy mutations impair ciliogenesis.
Morrison CG
Structure (london, England : 1993), 2022
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
Slaats GG et al.
Plos Genetics, 2014
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M et al.
Molecular Vision, 2013
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M et al.
Cell, 2012
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