Affinage

CDH23

Cadherin-23 · UniProt Q9H251

Length
3354 aa
Mass
369.5 kDa
Annotated
2026-06-09
95 papers in source corpus 21 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CDH23 encodes a large single-pass transmembrane cadherin with 27 extracellular cadherin (EC) repeats that is a structural component of the stereocilia tip links in inner ear hair cells, where it is required both for the developmental organization of the hair bundle and for the maintenance of mechanoelectrical transduction (PMID:11138008, PMID:11138009, PMID:11386759, PMID:19270079, PMID:24172198). Its EC domains bind calcium at conserved aspartate-containing motifs that confer rigidity to the elongated extracellular structure, and DFNB12-causing missense substitutions in these calcium-binding sites impair tip-link stability and cause progressive hearing loss without disrupting hair-cell development, whereas null mutations abolish tip links and disorganize the bundle during development (USH1D) (PMID:19270079, PMID:12522556). In zebrafish, loss of cdh23 eliminates MET channel activity, confirming the cadherin's role in mechanosensory transduction (PMID:37575969). At the cytoplasmic face, the hair-cell-specific CDH23(+68) isoform—whose exon 68 inclusion is positively controlled by the splicing factors RBM24/RBM38 and antagonized by PTBP1—cooperates with harmonin to form phase-separated condensates at the upper tip-link density, and loss of exon 68 leaves tip links forming normally but progressively unstable (PMID:32774357, PMID:38408254). CDH23 additionally interacts genetically and functionally with the USH1 scaffold protein SANS in stereocilia maintenance, its trafficking is modulated in a calcium-sensitive manner by the endocytic recycling protein EHD4, and dysfunction of CDH23 triggers hair-cell death through ER stress followed by caspase-mediated apoptosis (PMID:26936824, PMID:19487694, PMID:27882946, PMID:20644563). Several apparent missense or synonymous CDH23 variants instead act by disrupting splicing, accounting for genotype-phenotype relationships across the USH1D/DFNB12 spectrum (PMID:18273900, PMID:11857743).

Mechanistic history

Synthesis pass · year-by-year structured walk · 19 steps
  1. 2001 High

    Established CDH23 as an essential hair-bundle protein by showing that null mutations disorganize stereocilia during early hair-cell differentiation, defining its developmental role before any tip-link function was known.

    Evidence Positional cloning and SEM phenotyping of multiple Cdh23 null alleles in mouse inner ear

    PMID:11138008 PMID:11138009 PMID:11386759

    Open questions at the time
    • Did not localize CDH23 to a specific bundle structure
    • Molecular partners and biochemical activity unresolved
  2. 2002 Medium

    Connected DFNB12 missense mutations to disrupted calcium binding by showing that disease substitutions hit conserved aspartates in EC calcium-binding motifs, providing a structural rationale for how missense alleles impair cadherin rigidity.

    Evidence Mutation analysis and molecular modeling of EC domains on the E-cadherin template

    PMID:12522556

    Open questions at the time
    • No in vitro calcium-binding assay performed
    • Homophilic interaction prediction not experimentally tested
  3. 2002 Medium

    Demonstrated that several apparent missense/synonymous CDH23 variants act via aberrant splicing producing premature truncations, refining how genotype maps to phenotype.

    Evidence Exon trapping/minigene assays of splice-site mutations

    PMID:11857743

    Open questions at the time
    • Limited to two variants
    • In vitro splicing may not reflect cochlear transcripts
  4. 2002 Medium

    Tested whether CDH23 and MYO7A act in a common genetic pathway in stereocilia and found no genetic interaction, narrowing the network of CDH23-dependent maintenance.

    Evidence Epistasis analysis in double mutant mice with Myo7a immunofluorescence and ABR

    PMID:12121736

    Open questions at the time
    • Negative result does not exclude indirect or context-specific interaction
    • Did not address physical association
  5. 2003 Medium

    Extended CDH23 function beyond the ear by showing retinal electrophysiological dysfunction in null mice, indicating a sensory role outside the cochlea.

    Evidence ERG and light microscopy across multiple Cdh23 alleles plus Cdh23/Myo7a double mutants

    PMID:14609561

    Open questions at the time
    • No anatomical degeneration detected
    • Molecular basis of retinal dysfunction unresolved
  6. 2006 Medium

    Localized the CDH23(+68) cytoplasmic/transmembrane region to actin-rich protrusions and showed that a splice-site mutant yields insoluble protein cleared by lysosomal degradation, linking aberrant splicing to protein mislocalization and turnover.

    Evidence Immunofluorescence in transfected cells and TEM of mutant mouse inner ear

    PMID:16281288

    Open questions at the time
    • Single lab
    • Did not establish the trafficking machinery responsible
  7. 2008 Medium

    Explained why an apparent missense mutation produces the syndromic USH1D rather than nonsyndromic phenotype by showing it causes exon skipping, distinguishing splicing-disrupting from true missense alleles.

    Evidence Minigene splicing assay of four missense variants

    PMID:18273900

    Open questions at the time
    • In vitro minigene context
    • Protein-level consequence not directly measured
  8. 2009 High

    Resolved CDH23's role as a structural tip-link component by contrasting null (tip-link loss, developmental disruption) with missense (intact development, progressive tip-link loss) models, dissociating developmental from maintenance functions.

    Evidence Forward genetics, SEM, and mechanotransduction electrophysiology in mouse models

    PMID:19270079

    Open questions at the time
    • Did not define the cytoplasmic stabilization machinery
    • Molecular partner at the tip link not identified here
  9. 2009 Medium

    Identified EHD4 as a calcium-sensitive CDH23 interactor, providing a candidate mechanism for regulating CDH23 trafficking and localization.

    Evidence Membrane yeast two-hybrid, reciprocal co-IP, and EHD4 knockout auditory phenotyping

    PMID:19487694

    Open questions at the time
    • Single lab
    • Direct effect on CDH23 trafficking in hair cells not shown
  10. 2010 Medium

    Established CDH23 as essential for tip-link maintenance during aging by showing hypomorphic compound heterozygotes develop normally then progressively lose tip links, separating maintenance from formation.

    Evidence CDH23 immunolocalization at tip links, ABR, and SEM in compound heterozygous mice

    PMID:24172198

    Open questions at the time
    • Mechanism of age-dependent destabilization unresolved
    • Single lab
  11. 2010 Medium

    Defined an apoptotic, caspase-mediated cell-death pathway downstream of CDH23 dysfunction, identifying a druggable node for hair-cell survival.

    Evidence Caspase analysis and Z-VAD-FMK pharmacological rescue in Cdh23 missense mice

    PMID:20644563

    Open questions at the time
    • Upstream trigger of apoptosis not defined here
    • Single lab
  12. 2016 Medium

    Placed ER stress upstream of apoptosis in CDH23-mutant hair cells, ordering the cell-death cascade triggered by tip-link dysfunction.

    Evidence ER stress marker analysis and Salubrinal rescue in Cdh23erl/erl cochleae

    PMID:27882946

    Open questions at the time
    • Link between tip-link loss and ER stress induction not mechanistically defined
    • Single lab
  13. 2016 High

    Demonstrated a functional CDH23-SANS interaction required for stereocilia maintenance through precise allele rescue, identifying a genetic modifier relationship within the USH1 network.

    Evidence CRISPR knock-in rescue of the protective Cdh23 allele with ABR and SEM

    PMID:26936824

    Open questions at the time
    • Direct physical CDH23-SANS binding not demonstrated here
    • Stoichiometry and localization of interaction unresolved
  14. 2020 Medium

    Identified the splicing regulators controlling the hair-cell-specific CDH23 isoform, showing RBM24/RBM38 promote and PTBP1 represses exon 68 inclusion.

    Evidence Splicing reporter screen, Rbm24 knockdown/knockout, and minigene assays in cells

    PMID:32774357

    Open questions at the time
    • In vivo cochlear requirement of these factors not tested here
    • Single lab
  15. 2024 High

    Explained the molecular function of exon 68 by showing the CDH23(+68) cytoplasmic tail cooperates with harmonin via phase separation at the upper tip-link density, with exon 68 loss causing progressive tip-link instability.

    Evidence Exon 68 deletion mice, SEM, electrophysiology, and harmonin condensate assays

    PMID:38408254

    Open questions at the time
    • In vivo demonstration of condensates at the UTLD not directly imaged
    • Regulation of condensate dynamics by calcium not addressed
  16. 2025 Medium

    Confirmed CDH23 is required for MET channel activity across vertebrate hair cells and linked its loss to dysregulated purine/ATP metabolism with partial ATP rescue.

    Evidence cdh23-knockout zebrafish, YO-PRO-1 MET assay, transcriptomics, and ATP supplementation

    PMID:37575969

    Open questions at the time
    • Mechanism linking CDH23 to purine metabolism unclear
    • Partial rescue not mechanistically explained
  17. 2025 Low

    Associated retinal CDH23 loss with Ca2+-MAPK-driven apoptosis in zebrafish, proposing a death pathway for photoreceptor degeneration.

    Evidence cdh23-knockout zebrafish transcriptomics with TUNEL and histology

    PMID:40429749

    Open questions at the time
    • Transcriptomics-based pathway inference without direct mechanistic dissection
    • Ca2+-MAPK causal link not validated
  18. 2025 Low

    Computationally modeled how a CDH23 variant disrupts the CDH23-PCDH15 interface, proposing a structural basis for tip-link complex destabilization.

    Evidence In silico molecular dynamics and protein-protein interaction modeling

    PMID:40047980

    Open questions at the time
    • Computational prediction only, no experimental validation
    • CDH23-PCDH15 binding disruption not measured
  19. 2021 Medium

    Extended CDH23 function to central auditory sensory gating by linking a hypomorphic allele to prepulse inhibition and brain eQTL effects.

    Evidence QTL mapping, CRISPR knock-in into B6 background, PPI testing, and eQTL analysis

    PMID:33595068

    Open questions at the time
    • Whether the PPI effect reflects peripheral hearing or central role unresolved
    • Brain CDH23 function mechanism unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How CDH23 phase-separated condensates, calcium-dependent trafficking, and the ER-stress-to-apoptosis cascade are mechanistically coupled to tip-link turnover in vivo remains unresolved.
  • No structural reconstitution of the full CDH23-PCDH15-harmonin-SANS upper tip-link complex
  • Trigger linking mechanical tip-link loss to ER stress not identified
  • Calcium regulation of condensate dynamics uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098631 cell adhesion mediator activity 3 GO:0060089 molecular transducer activity 2
Localization
GO:0005856 cytoskeleton 2 GO:0005886 plasma membrane 2
Pathway
R-HSA-5357801 Programmed Cell Death 2 R-HSA-9709957 Sensory Perception 2
Partners
EHD4HARS/HARMONINPCDH15SANS/USH1G
Complex memberships
stereocilia tip linkupper tip-link density

Evidence

Reading pass · 19 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; null mutations in mouse Cdh23 (waltzer alleles) disrupt stereocilia organization on inner ear hair cells during early hair-cell differentiation, establishing CDH23 as a critical component of hair bundle formation. Positional cloning, cDNA sequencing, in situ hybridization in mouse inner ear, phenotypic analysis of Cdh23 null alleles (v6J, vAlb, v2J) by scanning electron microscopy Nature genetics High 11138008 11138009 11386759
2009 CDH23 null alleles (waltzer mice modeling USH1D) cause complete loss of tip links and disrupted stereocilia bundle development, whereas a missense Cdh23 mutation (salsa mice modeling DFNB12) leaves hair cell development intact but results in progressive loss of tip links, demonstrating that CDH23 is a structural component of tip links required for mechanoelectrical transduction. Forward genetic screen, scanning electron microscopy of hair bundles, electrophysiology of hair cell mechanotransduction in Cdh23 missense vs null mouse models Proceedings of the National Academy of Sciences of the United States of America High 19270079
2002 DFNB12-causing CDH23 missense mutations (D2148N, D1341N) substitute highly conserved aspartic acid residues in the calcium-binding sites of the extracellular cadherin (EC) domains; molecular modeling based on E-cadherin structure predicts these substitutions impair calcium binding, which normally provides rigidity to the elongated cadherin structure enabling homophilic interactions. Mutation analysis, molecular modeling of EC domains based on E-cadherin crystal structure, calcium-binding motif conservation analysis Human genetics Medium 12522556
2009 EHD4, a member of the C-terminal EH domain protein family involved in endocytic recycling, 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 in mammalian cells, EHD4 knockout mouse auditory phenotyping The Journal of biological chemistry Medium 19487694
2020 Alternative splicing of Cdh23 exon 68 is positively regulated by RBM24 and RBM38 and negatively regulated by PTBP1; knockdown or knockout of Rbm24 in cells reduces exon 68 inclusion, demonstrating these splicing factors control production of the hair-cell-specific CDH23 isoform. Cell-based splicing reporter screen, Rbm24 knockdown and knockout cell experiments, minigene assays Neural plasticity Medium 32774357
2024 Cdh23 exon 68 is subject to hair-cell-specific alternative splicing; mice lacking exon 68 show normal tip-link formation but progressive loss of tip-link stability and progressive/noise-induced hearing loss. The cytoplasmic tail of CDH23(+68) but not CDH23(−68) cooperates with harmonin to form phase separation-mediated condensates at the upper tip-link density (UTLD), explaining how exon 68 inclusion stabilizes tip links. Genetically modified mice (exon 68 deletion), scanning electron microscopy, electrophysiology, phase separation/condensate assays with harmonin in cells, ABR/noise-exposure hearing tests Proceedings of the National Academy of Sciences of the United States of America High 38408254
2006 The cytoplasmic/transmembrane region of CDH23 isoforms including exon 68 (CDH23+68) localizes to filamentous actin-rich protrusions and the plasma membrane in transfected cultured cells, whereas the BUS mouse mutant splice-site allele (Cdh23:c.9633+1G>A) produces a highly insoluble protein retained in the cytoplasm, leading to lysosomal bulk degradation (accumulation of autophagosomes/autolysosomes) in vivo. Immunofluorescence in transfected cells, immunochemistry with anti-Cdh23 antibodies in mouse inner ear, transmission electron microscopy of mutant inner ear Human mutation Medium 16281288
2002 Cdh23 and Myo7a do not genetically interact to affect stereocilia bundle organization or age-related hearing loss in mice: Myo7a is expressed normally in Cdh23 null mutant hair cells, and double heterozygotes (Cdh23v/+; Myo7a4626SB/+) show no stereocilia defects or greater hearing loss than single heterozygotes. Epistasis analysis in double heterozygote and double homozygote mice, immunofluorescence for Myo7a expression, scanning electron microscopy of hair bundles, ABR measurements Hearing research Medium 12121736
2016 Early-onset progressive hearing loss caused by heterozygous Ush1g/Sans mutation in C57BL/6J mice requires the co-presence of the hypomorphic Cdh23c.753A allele; CRISPR/Cas9 knock-in of the protective Cdh23c.753A>G substitution completely rescued hearing loss and stereocilia degeneration, indicating that SANS and CDH23 proteins interact in stereocilia and their co-function is required for stereocilia maintenance. Classical genetic analysis, CRISPR/Cas9 knock-in mice, ABR audiometry, scanning electron microscopy of stereocilia Human molecular genetics High 26936824
2010 CDH23 localizes to the tip links of stereocilia in hair cells; compound heterozygosity of a Cdh23 null allele with the hypomorphic Cdh23ahl allele leads to normal stereocilia development but progressive stereocilia disruption and age-dependent tip-link loss, indicating CDH23 plays an essential role in maintaining tip-link integrity during aging. Immunolocalization of CDH23 at tip links, ABR audiometry, scanning electron microscopy in compound heterozygous mice Experimental animals Medium 24172198
2010 In Cdh23erl/erl mice carrying a missense Cdh23 mutation, hair cell death and hearing loss occur through apoptosis (upregulation of caspase activity); pan-caspase inhibitor Z-VAD-FMK preserves hearing and reduces outer hair cell loss, establishing an apoptotic pathway downstream of Cdh23 dysfunction. Mouse model with missense Cdh23 mutation, caspase expression analysis, pharmacological inhibition with Z-VAD-FMK, ABR audiometry, hair cell counting The pharmacogenomics journal Medium 20644563
2016 Endoplasmic reticulum (ER) stress is the earliest molecular event upstream of apoptosis in Cdh23erl/erl hair cells; ER stress inhibitor Salubrinal delays hearing loss and preserves hair cells, placing ER stress upstream of tip-link degeneration and caspase activation in the CDH23 mutation-induced cell death pathway. ER stress marker analysis in Cdh23erl/erl cochleae, pharmacological treatment with Salubrinal, ABR audiometry, hair cell viability assays Cell death & disease Medium 27882946
2003 Cdh23 mutations in waltzer mice cause retinal dysfunction (abnormal ERG a- and b-waves or implicit times) without anatomical retinal degeneration detectable by light microscopy; no functional interaction between Cdh23 and Myo7a was detected in the retina by ERG or microscopy in double mutant mice. Electroretinography (ERG) of three Cdh23 mutant alleles, light microscopy histology, generation of Cdh23/Myo7a double mutant mice Experimental eye research Medium 14609561
2025 In cdh23-knockout zebrafish, YO-PRO-1 signal (indicator of MET channel activity) in inner ear and lateral line neuromast hair cells is completely lost, confirming CDH23 is required for mechanosensory transduction. Transcriptomics revealed dysregulation of purine metabolism genes (atp1b2b, myof), and ATP treatment partially rescued the cdh23-null hearing phenotype, suggesting CDH23 function is linked to purine/ATP metabolism in hair cells. CRISPR/Cas9 cdh23 knockout zebrafish, YO-PRO-1 MET channel assay, startle response behavioral test, comparative transcriptomics, RT-qPCR, ATP supplementation rescue experiment Frontiers in molecular neuroscience Medium 37575969
2025 In cdh23-knockout zebrafish, rod photoreceptor degeneration is associated with increased Ca2+ and activation of the MAPK signaling pathway; TUNEL staining confirmed increased apoptosis in the cdh23-null retina, indicating CDH23 loss in the retina triggers cell death through Ca2+–MAPK interaction. CRISPR/Cas9 cdh23 zebrafish knockout, comparative transcriptomics, TUNEL staining, H&E histology, RT-qPCR International journal of molecular sciences Low 40429749
2025 In silico molecular dynamics analysis of the CDH23 p.C1717R variant predicts that the mutation abolishes the interaction interface with PCDH15, completely eliminating CDH23–PCDH15 complex formation in the region surrounding the mutation and significantly reducing complex stability, while paradoxically enhancing CDH23 monomer stability. In silico molecular dynamics simulation and protein–protein interaction modeling Molecular biology reports Low 40047980
2008 CDH23 missense mutation p.R1746Q causes aberrant splicing (exon skipping) as revealed by minigene assay, explaining why this apparent missense mutation causes the syndromic USH1D phenotype rather than the nonsyndromic DFNB12 phenotype, while three other missense mutations (p.A484P, p.T1209A, p.R1507Q) showed normal splicing. Minigene splicing assay in cultured cells, in silico splicing prediction Human mutation Medium 18273900
2021 The Cdh23 c.753G>A variant in mice influences prepulse inhibition (PPI), an endophenotype of schizophrenia; engineering the c.753G allele (from C3H strain) into the C57BL/6N background dampens PPI, and the variant has an eQTL effect on Cdh23 brain expression, suggesting CDH23 function extends to auditory sensory gating in the brain. QTL mapping with increased marker density, CRISPR/Cas9 knock-in of Cdh23c.753G allele into B6 background, PPI behavioral testing, eQTL analysis of brain expression Schizophrenia bulletin Medium 33595068
2002 In vitro expression (exon trapping) of two CDH23 splice-site mutations showed: a synonymous c.5712G>A transition at the last base of exon 42 causes exon 42 skipping, and an intronic IVS45-9G>A mutation creates a novel splice acceptor site causing insertion of 7 intronic bp, demonstrating these variants produce premature truncations rather than simple missense/silent changes. Exon trapping/minigene in vitro splicing assay Human mutation Medium 11857743

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 442 11090341
2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nature genetics 393 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 341 11138008
2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. American journal of human genetics 184 12075507
2011 Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hearing research 150 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 77 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 71 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 63 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
2017 Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. American journal of human genetics 55 28413019
2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Human mutation 54 18429043
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 37 25963016
2003 Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Experimental eye research 36 14609561
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 34 35020051
2016 ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice. Cell death & disease 34 27882946
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 31 32101784
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
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 26 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
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 23 26264712
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
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 22 26936824
2010 Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. Journal of human genetics 22 20844544
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 Alternative Splicing of Cdh23 Exon 68 Is Regulated by RBM24, RBM38, and PTBP1. Neural plasticity 15 32774357
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
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
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 10 38408254
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
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 9 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
2022 Identification of four novel variants in the CDH23 gene from four affected families with hearing loss. Frontiers in genetics 7 36468022
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
2025 Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss. Genes & genomics 6 39777619
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
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 5 34752165
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
2024 Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Scientific reports 4 38720048
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
2020 A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. Audiology & neuro-otology 3 32485727
2022 A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Animal genetics 2 36308003
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 A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction. Human molecular genetics 1 38981620
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 Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss. Genes 0 39596651

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