Associated Papers
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Schmidt RE et al.
Npj Genomic Medicine, 2025
CFAP410 has a bimodular architecture with a conserved surface patch on its N-terminal leucine-rich repeat motif for binding interaction partners.
Stadler A et al.
Frontiers in Cell and Developmental Biology, 2025
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
Borchert GA et al.
Ophthalmic Genetics, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Npj Genomic Medicine, 2024
39516462 (PubMed )
Supplement: 41525_2024_439_MOESM1_ESM.pdf
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Zelina P et al.
Acta Neuropathologica Communications, 2024
The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.
Stadler A et al.
Open Biology, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Research Square, 2024
C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.
Shinbashi M et al.
Clinical Case Reports, 2023
Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma.
Yang S et al.
Frontiers in Medicine, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
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_S12.xls › Sheet1
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies.
Shin DH et al.
Korean Journal of Ophthalmology : Kjo, 2020
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Prediction of structural consequences for disease causing variants in C21orf2 protein using computational approaches.
Iyer S et al.
Journal of Biomolecular Structure & Dynamics, 2019
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
Suga A et al.
Investigative Ophthalmology & Visual Science, 2016
Select a paper to view details