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
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
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Abu-Diab A et al.
Translational Vision Science & Technology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD et al.
Ophthalmic Genetics, 2021
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
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