Affinage

CDH23

Cadherin-23 · UniProt Q9H251

Length
3354 aa
Mass
369.5 kDa
Annotated
2026-04-28
95 papers in source corpus 21 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CDH23 is a large transmembrane cadherin-repeat protein that forms the upper component of tip links in inner-ear hair cell stereocilia and is essential for mechanotransduction, hair bundle morphogenesis, and long-term stereocilia maintenance. Its 27 extracellular cadherin (EC) repeats require calcium binding at conserved motifs for structural rigidity; missense mutations disrupting these motifs cause progressive tip-link loss and hair cell death through ER stress and caspase-mediated apoptosis, while null alleles abolish early bundle formation and mechanotransduction (PMID:11138008, PMID:19270079, PMID:27882946, PMID:37575969). The cytoplasmic tail encoded by the hair cell–specific exon 68 isoform cooperates with harmonin to undergo liquid–liquid phase separation, forming condensates at the upper tip-link density that stabilize tip links against mechanical and noise-induced damage (PMID:38408254). Null mutations cause Usher syndrome type 1D (deaf-blindness), whereas missense alleles that preserve early development cause non-syndromic deafness DFNB12, and CDH23 additionally interacts with SANS/USH1G to maintain stereocilia integrity (PMID:11090341, PMID:26936824).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2000 High

    Establishing that CDH23 mutations are the molecular cause of both Usher syndrome type 1D and DFNB12 resolved a longstanding question about the genetic basis of these deafness loci and revealed an allelic severity hierarchy in which null alleles produce syndromic disease while missense alleles produce isolated deafness.

    Evidence Positional cloning and mutation screening in consanguineous families with genotype–phenotype correlation

    PMID:11090341 PMID:11138009 PMID:12075507

    Open questions at the time
    • Molecular basis for why missense alleles spare retinal function was unknown
    • No protein-level evidence for CDH23 localization or function at this stage
  2. 2001 High

    Cloning of the full-length Cdh23 cDNA and analysis of waltzer mice demonstrated that CDH23 is a 27-EC-repeat transmembrane protein whose loss disrupts stereocilia bundle organization, establishing its structural role in hair cells.

    Evidence Positional cloning, cDNA sequencing, in situ hybridization, and histology of multiple waltzer alleles

    PMID:11138008 PMID:11138009 PMID:11386759 PMID:11750125

    Open questions at the time
    • Whether CDH23 is a tip-link component versus an accessory factor was unresolved
    • No biochemical characterization of ectodomain interactions
  3. 2002 Medium

    Molecular modeling showed that DFNB12 missense mutations target conserved calcium-binding aspartates in EC domains, providing the first mechanistic explanation for how specific mutations weaken CDH23 ectodomain rigidity without abolishing protein expression.

    Evidence Patient mutation identification combined with homology modeling based on E-cadherin crystal structure

    PMID:12522556

    Open questions at the time
    • No direct biochemical measurement of calcium affinity or ectodomain stiffness
    • Modeling relied on distantly related E-cadherin template
  4. 2006 Medium

    Characterization of CDH23 isoform trafficking showed that wild-type cytoplasmic domain isoforms localize to actin-rich protrusions and the plasma membrane, while a splice-site mutant protein forms cytoplasmic aggregates degraded by autophagy, explaining complete protein absence in vivo for certain alleles.

    Evidence Immunofluorescence, TEM of autophagosomes, and FLAG-tagged construct transfection in cultured cells

    PMID:16281288

    Open questions at the time
    • Observations in heterologous cells, not validated in native hair cells
    • Autophagy mechanism not further dissected
  5. 2008 Medium

    A minigene assay revealed that the CDH23 R1746Q missense mutation causes exon skipping, explaining the paradox of a missense change producing syndromic USH1 rather than non-syndromic DFNB12 and demonstrating that some CDH23 'missense' alleles act through aberrant splicing.

    Evidence Minigene splicing assay with in silico splice-site prediction

    PMID:18273900

    Open questions at the time
    • Only one of four tested missense mutations showed splicing effects
    • Splicing impact not confirmed in patient-derived cells or inner ear tissue
  6. 2009 High

    Direct electron microscopy of a Cdh23 missense mouse mutant (salsa) versus the null (waltzer) resolved the question of CDH23's structural role: missense alleles permit normal early bundle formation but cause progressive tip-link loss, firmly placing CDH23 as a structural tip-link component required for mechanotransduction.

    Evidence Forward genetic ENU screen in mice producing a defined missense allele; scanning and transmission EM of tip links

    PMID:19270079

    Open questions at the time
    • Whether CDH23 forms the upper or lower tip-link strand was not yet resolved
    • Mechanism of progressive tip-link failure not identified
  7. 2010 Medium

    Identification of caspase-mediated apoptosis as the cell death pathway in Cdh23 missense mutant hair cells—and pharmacological rescue with a pan-caspase inhibitor—established that hearing loss from CDH23 hypomorphic alleles results from hair cell death rather than developmental malformation.

    Evidence Cdh23-erl mouse model, caspase expression analysis, Z-VAD-FMK treatment with ABR/DPOAE rescue

    PMID:20644563

    Open questions at the time
    • Upstream trigger of caspase activation was unknown
    • Pharmacological rescue was partial and short-term
  8. 2016 High

    Two key advances: (1) ER stress was identified as the earliest molecular event upstream of apoptosis in Cdh23 missense mutant hair cells, with Salubrinal treatment delaying hearing loss; (2) genetic interaction between CDH23 and SANS/USH1G was confirmed by compound heterozygote analysis and CRISPR rescue, showing these Usher proteins cooperate to maintain stereocilia.

    Evidence ER stress marker detection and pharmacological rescue in erl mice; CRISPR/Cas9 Cdh23 correction in Ush1g compound heterozygous mice with ABR testing

    PMID:26936824 PMID:27882946

    Open questions at the time
    • How CDH23 misfolding specifically triggers ER stress was not elucidated
    • Nature of the CDH23–SANS physical interaction at the molecular level was not resolved
  9. 2020 Medium

    Identification of RBM24, RBM38, and PTBP1 as regulators of Cdh23 exon 68 alternative splicing explained how hair cell–specific isoform selection is controlled, but the functional significance of exon 68 remained unclear.

    Evidence Cell-based splicing factor screen, Rbm24 knockdown/knockout, minigene assay

    PMID:32774357

    Open questions at the time
    • Functional consequence of exon 68 inclusion for tip-link biology was unknown
    • Splicing regulation not validated in primary hair cells in vivo
  10. 2024 High

    The long-open question of why exon 68 matters was answered: CDH23(+68) cytoplasmic tail cooperates with harmonin to form phase-separated condensates at the upper tip-link density, stabilizing tip links; mice lacking exon 68 form tip links normally but lose them progressively and are noise-sensitive.

    Evidence Exon 68 knockout mice, tip-link quantification by EM, in vitro phase separation assays with CDH23 isoforms and harmonin, ABR/DPOAE

    PMID:38408254

    Open questions at the time
    • Whether phase separation is regulated dynamically during mechanotransduction is unknown
    • Structural details of the CDH23–harmonin condensate are unresolved
  11. 2025 Medium

    Zebrafish and mouse studies extended CDH23's role: cdh23 knockout zebrafish lose mechanotransduction channel function (YO-PRO-1 uptake) and show metabolic compensation via ATP supplementation; Cdh23-null mice show vestibular hair cell loss with p53/FoxO pathway activation.

    Evidence CRISPR zebrafish knockout with mechanotransduction assay and ATP rescue; Cdh23 null mouse vestibular SEM and signaling analysis

    PMID:37575969 PMID:39966205

    Open questions at the time
    • Metabolic rescue mechanism in zebrafish is indirect and poorly characterized
    • Whether p53/FoxO activation is a direct consequence of tip-link loss or secondary to ER stress is unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the atomic-resolution structure of the full CDH23 ectodomain and its heterophilic tip-link interface with PCDH15, the biophysical regulation of CDH23–harmonin phase separation under mechanical load, and whether CDH23 has signaling roles beyond its structural tip-link function.
  • No full-length CDH23 ectodomain crystal or cryo-EM structure
  • Mechanistic basis of CDH23 role in retinal photoreceptor function is unexplored
  • Whether CDH23 phase-separated condensates are dynamically remodeled during sound transduction is unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4 GO:0098631 cell adhesion mediator activity 4
Localization
GO:0005929 cilium 4 GO:0005886 plasma membrane 3 GO:0005856 cytoskeleton 2
Pathway
R-HSA-9709957 Sensory Perception 4 R-HSA-1643685 Disease 3 R-HSA-5357801 Programmed Cell Death 3
Partners
EHD4HARMONINPTBP1RBM24SANS (USH1G)
Complex memberships
tip-link complex (CDH23–PCDH15)upper tip-link density (UTLD) condensate

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 CDH23 encodes a large single-pass transmembrane protein with 27 extracellular cadherin repeats (otocadherin); null mutations in mouse Cdh23 disrupt stereocilia organization on cochlear and vestibular hair cells, establishing CDH23 as a critical component of hair bundle formation Positional cloning, cDNA sequencing, in situ hybridization, histology of waltzer mouse mutants Nature genetics High 11138008 11138009 11386759
2000 CDH23 mutations cause both nonsyndromic autosomal recessive deafness (DFNB12, missense mutations) and Usher syndrome type 1D (nonsense/frameshift/splice-site mutations), establishing an allelic hierarchy where null alleles produce the syndromic phenotype Positional cloning, mutation screening by sequencing in consanguineous families, genotype-phenotype correlation American journal of human genetics High 11090341 11138009 12075507
2009 CDH23 missense mutations (modeling DFNB12) cause progressive loss of tip links in hair cells without disrupting hair cell development, whereas null alleles (modeling USH1D) disrupt early stereocilia bundle formation; this places CDH23 as a structural component of tip links required for mechanotransduction Forward genetic screen in mice (salsa missense allele), electron microscopy of tip links, comparison with null (waltzer) alleles Proceedings of the National Academy of Sciences of the United States of America High 19270079
2002 DFNB12-causing CDH23 missense mutations substitute conserved aspartate residues in the calcium-binding motifs of extracellular cadherin (EC) domains; molecular modeling based on E-cadherin structure indicates these mutations impair calcium binding, which normally provides rigidity enabling CDH23 homophilic or heterophilic interactions Mutation identification in patients, molecular modeling of EC domains based on E-cadherin crystal structure Human genetics Medium 12522556
2009 EHD4, a member of the EH-domain endocytic recycling protein family, co-localizes and co-immunoprecipitates with CDH23 in mammalian cells; the interaction is calcium-sensitive, suggesting EHD4 regulates CDH23 trafficking/localization in a calcium-dependent manner Membrane-based yeast two-hybrid screen of outer hair cell cDNA library, in situ hybridization, co-immunoprecipitation, EHD4 knockout mouse auditory function testing The Journal of biological chemistry Medium 19487694
2006 CDH23 cytoplasmic domain isoforms (+exon68 and -exon68) localize to filamentous actin-rich protrusions and the plasma membrane when expressed in cultured cells, whereas a splice-site mutant protein (vbus allele) is retained in the cytoplasm as insoluble aggregates and triggers lysosomal bulk degradation (autophagy), resulting in complete absence of CDH23 protein in vivo RT-PCR, immunochemistry, immunofluorescence, transmission electron microscopy (autophagosome detection), transfection of FLAG-tagged constructs Human mutation Medium 16281288
2002 Cdh23 and Myo7a function independently (not epistatically) in establishing stereocilia bundle organization; double-homozygous waltzer/shaker1 mice show the same phenotype as shaker1 single mutants, indicating no genetic interaction between CDH23 and myosin VIIa for this process Generation of double heterozygous and double homozygous mouse mutants, histology, audiometry Hearing research Medium 12121736
2003 Cdh23 mutations cause abnormal retinal function (altered ERG a- and b-wave amplitudes and implicit times) in waltzer mice without retinal degeneration detectable by light microscopy; no functional interaction between Cdh23 and Myo7a was detected in the retina by ERG or histology Electroretinography (ERG), histology, double-mutant analysis (Cdh23 × Myo7a) Experimental eye research Medium 14609561
2016 SANS (USH1G) and CDH23 proteins form a complex in stereocilia; compound heterozygosity of Ush1g and Cdh23 mutations in C57BL/6J mice causes early-onset progressive hearing loss with progressive stereocilia degeneration, and CRISPR/Cas9-mediated correction of the Cdh23 c.753A allele rescues the hearing loss phenotype, establishing that SANS and CDH23 interact to maintain stereocilia integrity Classical genetic analysis, CRISPR/Cas9 knock-in, ABR testing, stereocilia morphology analysis Human molecular genetics High 26936824
2020 Alternative splicing of Cdh23 exon 68 is regulated by splicing factors RBM24 and RBM38 (which promote inclusion) and PTBP1 (which inhibits inclusion); exon 68 splicing is cell-type specific and is affected by Rbm24 knockdown/knockout Cell-based splicing factor screen, Rbm24 knockdown and knockout cell experiments, minigene assay Neural plasticity Medium 32774357
2024 CDH23 exon 68 is subject to hair cell-specific alternative splicing; mice lacking Cdh23 exon 68 show normal tip-link formation but compromised tip-link stability and progressive/noise-induced hearing loss; the cytoplasmic tail of CDH23(+68) but not CDH23(-68) cooperates with harmonin to undergo phase separation-mediated condensate formation at the upper tip-link density (UTLD), establishing that exon 68 inclusion is critical for tip-link stability through regulation of UTLD condensate formation Genetically modified mice lacking exon 68, electron microscopy (tip-link imaging), phase separation assays, ABR/DPOAE testing, co-expression of CDH23 isoforms with harmonin Proceedings of the National Academy of Sciences of the United States of America High 38408254
2010 Cdh23 missense allele (erl, S70P) causes hair cell apoptosis via upregulation of caspase expression; pan-caspase inhibitor Z-VAD-FMK treatment preserves hearing and reduces outer hair cell loss, linking the CDH23 missense mutation to apoptotic cell death rather than developmental defects Mouse model characterization, caspase expression analysis, pharmacological inhibition with Z-VAD-FMK, ABR/DPOAE testing, cochlear histology The pharmacogenomics journal Medium 20644563
2016 ER stress is the earliest molecular event upstream of apoptosis in hair cells of Cdh23(erl/erl) mice; ER stress inhibitor Salubrinal delays hearing loss and preserves hair cells, positioning ER stress-induced apoptosis as the pathomechanism downstream of the CDH23 missense mutation Molecular pathway analysis, ER stress marker detection, pharmacological treatment with Salubrinal, ABR testing, hair cell counting Cell death & disease Medium 27882946
2001 The mouse Cdh23 locus spans at least 350 kb with 69 coding exons; amino acid sequence alignments indicate that Cdh23 ectodomains adopt a conformation similar to classical cadherins; a Cdh23 transcript with spliced exon 68 is the predominant isoform in the organ of Corti Genomic structure determination, cDNA sequencing, amino acid alignment, RT-PCR of inner ear tissues Gene Medium 11750125
2013 CDH23 localizes to the tip links of stereocilia and reduction of Cdh23 gene dosage (compound heterozygosity of null and hypomorphic alleles) leads to progressive stereocilia degeneration and tip-link loss during aging, establishing that adequate CDH23 levels are required for tip-link maintenance Compound heterozygous mouse model, ABR testing, immunolocalization of CDH23 at tip links, stereocilia morphology analysis Experimental animals Medium 24172198
2025 In Cdh23 knockout zebrafish, CDH23 loss abolishes YO-PRO-1 uptake in inner ear and lateral line hair cells (indicating loss of mechanotransduction channel function); comparative transcriptomics identified atp1b2b and myof as candidate genes affecting hearing by regulating ATP production and purine metabolism in synergy with cdh23; ATP supplementation partially rescues the cdh23-/- phenotype CRISPR/Cas9 zebrafish knockout, YO-PRO-1 mechanotransduction assay, startle response test, comparative transcriptomics, RT-qPCR, ATP rescue experiment Frontiers in molecular neuroscience Medium 37575969
2008 The CDH23 missense mutation R1746Q causes aberrant splicing (exon skipping) in a minigene assay, explaining why this missense mutation causes syndromic USH1 rather than non-syndromic DFNB12; three other missense mutations (A484P, T1209A, R1507Q) did not affect splicing and may affect protein function directly or represent non-pathogenic variants Minigene splicing assay, in silico splice-site analysis Human mutation Medium 18273900
2025 Cdh23 knockout (Cdh23V2J2/V2J2) mice show abnormal stereocilia bundle arrangement and length in vestibular hair cells, abnormal otolith morphology, decreased vestibular hair cell number, and activation of p53 and FoxO signaling pathways, establishing CDH23 as required for vestibular hair cell maintenance with downstream p53/FoxO-mediated cell death Cdh23 functional null mouse model, scanning electron microscopy, vestibular behavioral testing, immunostaining, signaling pathway analysis Journal of molecular neuroscience Medium 39966205

Source papers

Stage 0 corpus · 95 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. American journal of human genetics 439 11090341
2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nature genetics 391 11138009
2001 Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nature genetics 339 11138008
2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. American journal of human genetics 182 12075507
2011 Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hearing research 147 22138310
2001 Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics 90 11386759
1996 Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Human molecular genetics 85 8894709
2009 A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proceedings of the National Academy of Sciences of the United States of America 80 19270079
2003 Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. Journal of the Association for Research in Otolaryngology : JARO 78 14648237
2011 Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. Journal of medical genetics 76 21940737
2001 Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 75 11750125
2017 Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains. Scientific reports 70 28287619
2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PloS one 64 22899989
1996 Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Human molecular genetics 64 8817348
2002 Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hearing research 62 12121736
2008 A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics 59 18662770
2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Human mutation 54 18429043
2017 Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. American journal of human genetics 53 28413019
2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clinical genetics 51 17850630
2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PloS one 49 24416283
2010 Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice. Hearing research 43 20470874
2001 A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochemical and biophysical research communications 42 11322776
2014 Genetic variants of CDH23 associated with noise-induced hearing loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 41 24448297
2002 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Human genetics 40 12522556
2010 A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. The pharmacogenomics journal 38 20644563
2002 Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Human mutation 38 11857743
2015 High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. Orphanet journal of rare diseases 36 25963016
2003 Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Experimental eye research 36 14609561
2016 ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice. Cell death & disease 34 27882946
2022 Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Human genetics 31 35020051
2013 Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. Experimental animals 31 24172198
2012 Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS). Acta oto-laryngologica 30 22443853
2020 c.753A>G genome editing of a Cdh23ahl allele delays age-related hearing loss and degeneration of cochlear hair cells in C57BL/6J mice. Hearing research 29 32101784
2018 CDH23 Methylation Status and Presbycusis Risk in Elderly Women. Frontiers in aging neuroscience 29 30131691
2016 Differential effects of Cdh23(753A) on auditory and vestibular functional aging in C57BL/6J mice. Neurobiology of aging 28 27255811
2009 Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. European journal of medical genetics 27 19375528
2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing. BMC medical genetics 25 24767429
2004 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 25 15353998
2011 An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. The American journal of pathology 24 21689626
2008 Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. Human mutation 24 18273900
2008 Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise. American journal of human biology : the official journal of the Human Biology Council 23 18348277
2015 Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. Journal of translational medicine 22 26264712
2010 Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. Journal of human genetics 22 20844544
2016 Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. Human molecular genetics 21 26936824
2012 A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice. Gene 20 22326520
2019 Mice heterozygous for the Cdh23/Ahl1 mutation show age-related deficits in auditory temporal processing. Neurobiology of aging 19 31247458
2019 Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1. Genes 18 31546658
2015 Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. Neuroscience 18 26748055
2013 A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers. Hearing research 18 23792079
2020 Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss. Genes 17 33316915
2009 EHD4 and CDH23 are interacting partners in cochlear hair cells. The Journal of biological chemistry 17 19487694
2001 Haplotype analysis of the USH1D locus and genotype-phenotype correlations. Clinical genetics 17 11531971
2020 Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. Frontiers in genetics 14 32425987
2020 Alternative Splicing of Cdh23 Exon 68 Is Regulated by RBM24, RBM38, and PTBP1. Neural plasticity 14 32774357
2006 Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. Human mutation 13 16281288
2021 Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia. Schizophrenia bulletin 12 33595068
2017 Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. Annals of human genetics 10 29148562
2016 Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. Ophthalmic surgery, lasers & imaging retina 10 26878454
2023 cdh23 affects congenital hearing loss through regulating purine metabolism. Frontiers in molecular neuroscience 9 37575969
2024 Disruption of Cdh23 exon 68 splicing leads to progressive hearing loss in mice by affecting tip-link stability. Proceedings of the National Academy of Sciences of the United States of America 8 38408254
2023 Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23. iScience 8 37854703
2021 Phenotypic differences in the inner ears of CBA/CaJ and C57BL/6J mice carrying missense and single base pair deletion mutations in the Cdh23 gene. Journal of neuroscience research 8 34133797
2019 Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. Human genome variation 8 30774966
2023 Treatment following Triple-AAV Delivery in Mature Murine Model of Human CDH23-Associated Hearing Loss. Current issues in molecular biology 7 38132436
2018 Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. Fetal and pediatric pathology 7 30582396
2022 Identification of four novel variants in the CDH23 gene from four affected families with hearing loss. Frontiers in genetics 6 36468022
2022 Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 5 35651951
2020 [Relationship research among CDH23 gene and the risk of noise-induced hearing loss]. Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases 5 32306668
2020 Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. Molecular genetics & genomic medicine 5 33205915
2018 The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 5 30367262
2017 A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family. International journal of pediatric otorhinolaryngology 5 29287849
2006 [Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers]. Wei sheng yan jiu = Journal of hygiene research 5 16598924
2025 Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss. Genes & genomics 4 39777619
2021 Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 4 34752165
2019 A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. Ophthalmic genetics 4 31755791
2025 Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family. Molecular biology reports 3 40047980
2021 [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 3 33794607
2024 Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Scientific reports 2 38720048
2022 A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Animal genetics 2 36308003
2020 A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. Audiology & neuro-otology 2 32485727
2016 [Association between CDH23 gene polymorphisms and susceptibility to noise-induced hearing loss in the Chinese population: a meta-analysis]. Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases 2 28241681
2024 Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report. Medicine 1 39287240
2023 A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation. Audiology & neuro-otology 1 37088079
2022 Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene. Frontiers in pediatrics 1 35186827
2020 [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 1 32911884
2026 A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma. Orphanet journal of rare diseases 0 41612354
2025 Protective Efficacy of T-type, Calcium Channel Antagonist on Auditory Function in Cdh23 Erl/Erl Mice. Alternative therapies in health and medicine 0 39480672
2025 Cdh23 Gene Mutation-Induced Vestibular Dysfunction in Mice: Abnormal Stereocilia Bundle and Otolith Development and Activation of p53/FoxO Signaling Pathway. Journal of molecular neuroscience : MN 0 39966205
2025 Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant. Stem cell research 0 40184886
2025 Zebrafish cdh23 Affects Rod Cell Phototransduction Through Regulating Ca2+ Transport and MAPK Signaling Pathway. International journal of molecular sciences 0 40429749
2025 Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model. BMJ open ophthalmology 0 41067752
2025 [Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 41230578
2024 Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23. Stem cell research 0 38878669
2024 A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction. Human molecular genetics 0 38981620
2024 Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss. Genes 0 39596651