Associated Papers
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss.
Kang M et al.
Cells, 2023
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
Chen C et al.
International Journal of Molecular Sciences, 2023
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Huang XF et al.
Human Mutation, 2019
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
Kubota D et al.
Ophthalmic Genetics, 2018
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.
Floriot S et al.
Nature Communications, 2015
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Khateb S et al.
Journal of Medical Genetics, 2014
Select a paper to view details