Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.P251P
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CDH23

NM_022124.6:p.P251P

Associated Papers

Relationship between inner hair cell synaptopathy and outer hair cell loss in two mouse models of accelerated age-related hearing loss.

Lankinen T et al.

Neurobiology of Aging, 2025

Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.

Fry LE et al.

Communications Biology, 2025

Stereocilia fusion pathology in the cochlear outer hair cells at the nanoscale level.

Ikäheimo K et al.

The Journal of Physiology, 2024

CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.

de Guimaraes TAC et al.

Investigative Ophthalmology & Visual Science, 2024

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea.

Ikäheimo K et al.

Life Science Alliance, 2022

Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis.

Wu ZD et al.

Annals of Human Biology, 2022

Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia.

Balan S et al.

Schizophrenia Bulletin, 2021

Mitochondrial calcium uniporter is essential for hearing and hair cell preservation in congenic FVB/NJ mice.

Manikandan M et al.

Scientific Reports, 2021

Gfi1Cre mice have early onset progressive hearing loss and induce recombination in numerous inner ear non-hair cells.

Matern M et al.

Scientific Reports, 2017

Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

Miyasaka Y et al.

Human Molecular Genetics, 2016

Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice.

Suzuki S et al.

Experimental Animals, 2015

A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.

Watson CJ et al.

Hearing Research, 2013

Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice.

Miyasaka Y et al.

Experimental Animals, 2013

Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese.

Hwang JH et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012

High-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss mice.

Keller JM et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2011

Vlgr1 is required for proper stereocilia maturation of cochlear hair cells.

Yagi H et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2007

Mouse models to study inner ear development and hereditary hearing loss.

Friedman LM et al.

The International Journal of Developmental Biology, 2007

[Genetic factors in susceptibility to age- and noise-related hearing loss].

Sliwińiska-Kowalska M et al.

Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego, 2006

Two quantitative trait loci affecting progressive hearing loss in 101/H mice.

Mashimo T et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2006

Strain background effects and genetic modifiers of hearing in mice.

Johnson KR et al.

Brain Research, 2006

Mapping quantitative trait loci for hearing loss in Black Swiss mice.

Drayton M et al.

Hearing Research, 2006

Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice.

Rzadzinska AK et al.

Hearing Research, 2005

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

Weston MD et al.

American Journal of Human Genetics, 2004

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

Noben-Trauth K et al.

Nature Genetics, 2003

Ca2+ homeostasis defects and hereditary hearing loss.

Mammano F

Biofactors (oxford, England), 0

Caspase-mediated apoptosis in the cochleae contributes to the early onset of hearing loss in A/J mice.

Han X et al.

Asn Neuro, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."