CDH23

Summary

Gene Symbol: CDH23
Description: cadherin related 23
Alias: CDHR23, PITA5, USH1D, cadherin-23, cadherin-like 23, cadherin-related family member 23, otocadherin
Species: human
Products:     CDH23

Top Publications

  1. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    ..three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23. Despite being critical for hearing, the functions of these proteins in the inner ear remain elusive...
  2. Zheng Q, Yan D, Ouyang X, Du L, Yu H, Chang B, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005;14:103-11 pubmed
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  3. Ouyang X, Yan D, Du L, Hejtmancik J, Jacobson S, Nance W, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116:292-9 pubmed
    ..Mutations in five genes, including MYO7A, USH1C, CDH23, PCDH15 and SANS, have been shown to be the cause of Usher syndrome type 1B, type 1C, type 1D, type 1F and type 1G,..
  4. Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. J Hum Genet. 2010;55:796-800 pubmed publisher
    ..USH type 1 (USH1), the second common type of USH, is frequently caused by MYO7A and CDH23 mutations, accounting for 70-80% of the cases among various ethnicities, including Caucasians, Africans and Asians...
  5. Di Palma F, Holme R, Bryda E, Belyantseva I, Pellegrino R, Kachar B, et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet. 2001;27:103-7 pubmed
    ..The 10.5-kb Cdh23 cDNA encodes a very large, single-pass transmembrane protein, that we have called otocadherin. It has an extracellular domain that contains 27 repeats; these show significant homology to the cadherin ..
  6. Wilson S, Householder D, Coppola V, Tessarollo L, Fritzsch B, Lee E, et al. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics. 2001;74:228-33 pubmed
    ..Finally, mutations in human CDH23 have recently been described for two loci, DFNB12 and USH1D, which cause nonsyndromic deafness, identifying waltzer as a mouse model for human hearing loss.
  7. Weil D, El Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003;12:463-71 pubmed
    ..Based on the known interaction between USH1B (myosin VIIa), USH1C (harmonin) and USH1D (cadherin 23) proteins and the results obtained in this study, we suggest that a functional network formed by the USH1B, C, ..
  8. Elledge H, Kazmierczak P, Clark P, Joseph J, Kolatkar A, Kuhn P, et al. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. Proc Natl Acad Sci U S A. 2010;107:10708-12 pubmed publisher
    ..Here, we have determined the structure of the EC1-EC2 domains of cadherin 23 (CDH23), which binds to protocadherin 15 (PCDH15) to form tip links of mechanosensory hair cells...
  9. Miyagawa M, Nishio S, Usami S. Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS ONE. 2012;7:e40366 pubmed publisher
    Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients...

More Information

Publications119 found, 100 shown here

  1. Bork J, Peters L, Bernstein S, Ahmed Z, Ness S, Polomeno R, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68:26-37 pubmed
    ..55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D...
  2. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002;99:14946-51 pubmed
    ..encode the unconventional myosin VIIa, the PDZ-domain protein harmonin, and the putative adhesion receptors cadherin 23 (CDH23) and protocadherin 15 (PCDH15). We show here that CDH23 and harmonin form a protein complex...
  3. Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet. 2007;72:339-44 pubmed
    Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these ..
  4. Oshima A, Jaijo T, Aller E, Millan J, Carney C, Usami S, et al. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008;29:E37-46 pubmed publisher
    Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss...
  5. Bolz H, von Brederlow B, Ramirez A, Bryda E, Kutsche K, Nothwang H, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27:108-12 pubmed
    ..Our data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype...
  6. Lagziel A, Ahmed Z, Schultz J, Morell R, Belyantseva I, Friedman T. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol. 2005;280:295-306 pubmed
    Mutant alleles of the gene encoding cadherin 23 are associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12) in humans, and deafness and circling behavior in waltzer (v) mice...
  7. Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger M, Bolz H. Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. Hum Mutat. 2008;29:452 pubmed publisher
    ..Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic deafness ..
  8. Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, et al. The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol. 2008;128:446-54 pubmed publisher
    ..Screening revealed that in Japanese, mutations in GJB2, SLC26A4, and CDH23, and the mitochondrial 12S rRNA are the major causes of hearing loss...
  9. Astuto L, Bork J, Weston M, Askew J, Fields R, Orten D, et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002;71:262-75 pubmed
    ..Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for ..
  10. de Brouwer A, Pennings R, Roeters M, Van Hauwe P, Astuto L, Hoefsloot L, et al. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet. 2003;112:156-63 pubmed
    ..Patients in two other branches (A and B) carry two new mutations in the cadherin 23 ( CDH23) gene (DFNB12). A homozygous CDH23 c.6442G-->A (D2148N) mutation is present in branch A...
  11. McHugh R, Friedman R. Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. Anat Rec A Discov Mol Cell Evol Biol. 2006;288:370-81 pubmed
    ..One of these genes, cadherin 23, produces a spectrum of phenotypic traits, including presbycusis, nonsyndromic prelingual hearing loss (DFNB12),..
  12. Sotomayor M, Weihofen W, Gaudet R, Corey D. Structural determinants of cadherin-23 function in hearing and deafness. Neuron. 2010;66:85-100 pubmed publisher
    ..The structures define an uncharacterized cadherin family and, with simulations, suggest mechanisms underlying inherited deafness and how cadherin-23 may bind with itself and with protocadherin-15 to form the tip link. ..
  13. Bortolozzi M, Brini M, Parkinson N, Crispino G, Scimemi P, De Siati R, et al. The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice. J Biol Chem. 2010;285:37693-703 pubmed publisher
  14. Fuster García C, García García G, Jaijo T, Fornés N, Ayuso C, Fernández Burriel M, et al. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Sci Rep. 2018;8:17113 pubmed publisher
    ..The designed panel included all the USH causative genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN and CLRN1) as well as four uncertainly associated genes (HARS, PDZD7, ..
  15. Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, et al. The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials. Int J Pediatr Otorhinolaryngol. 2019;121:99-108 pubmed publisher
    ..non-syndromic hearing loss (ARNSHL) have been identified, in order of prevalence are GJB2, SLC26A4, MYO15A, OTOF, CDH23, and TMC1...
  16. Zhang X, Ni Y, Liu Y, Zhang L, Zhang M, Fang X, et al. Screening of noise-induced hearing loss (NIHL)-associated SNPs and the assessment of its genetic susceptibility. Environ Health. 2019;18:30 pubmed publisher
    ..The results were validated using a prospective cohort population. Seven SNPs in the CDH23, PCDH15, EYA4, MYO1A, KCNMA1, and OTOG genes were significantly (P < 0...
  17. Tanimoto N, Sothilingam V, Gloeckner G, Bryda E, Humphries P, Biel M, et al. Auditory event-related signals in mouse ERG recordings. Doc Ophthalmol. 2014;128:25-32 pubmed publisher
    ..mice lacking any photoreceptor function (Cnga3 (-/-) rho (-/-)), and mice with no auditory function (Cdh23 (vAlb/vAlb) ) were examined with Xenon flash ERG systems...
  18. Lu R, STEWART L, Wilson J. Scaffolding protein GOPC regulates tight junction structure. Cell Tissue Res. 2015;360:321-32 pubmed publisher
    ..trafficking of a wide array of proteins, including small GTPases, receptors and cell surface molecules such as cadherin 23 and cystic fibrosis transmembrane regulator...
  19. Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet. 2016;61:419-22 pubmed publisher
    ..2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations...
  20. Riera M, Navarro R, Ruiz Nogales S, Méndez P, Burés Jelstrup A, Corcostegui B, et al. Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Sci Rep. 2017;7:42078 pubmed publisher
    ..and performed in vivo functional studies to determine the deleterious impact of variants identified in MERTK, CDH23, and RPGRIP1...
  21. Watson C, Tempel B. A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers. Hear Res. 2013;304:41-8 pubmed publisher
    ..However, extracellular Ca2+ ions surrounding the stereocilia are also required for rigidity of cadherin 23, a component of the stereocilia tip-link encoded by the Cdh23 gene...
  22. Jung J, Lee J, Cho K, Yu S, Yoon J, Yung Gee H, et al. Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population. Sci Rep. 2017;7:45973 pubmed publisher
    ..individuals without mutations in SLC26A4 and GJB2, 2 and 1 carried compound heterozygous mutations in MYO15A and CDH23, respectively. Thus, 64.3% (18/28) of individuals with NSHL were determined to be genetically predisposed...
  23. Alkowari M, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, et al. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res. 2017;800-802:29-36 pubmed publisher
    ..these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
  24. Xu T, Zhu W, Wang P. The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. Eur Arch Otorhinolaryngol. 2019;276:11-16 pubmed publisher
    ..The p.P240L variant increased the risk of NHSL in Asian populations, suggesting a remarkable ethnic specificity linked with susceptibility to this mutation. ..
  25. Cabanillas R, Diñeiro M, Cifuentes G, Castillo D, Pruneda P, Alvarez R, et al. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics. 2018;11:58 pubmed publisher
    ..6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC [n = 2], USH2A [n = 3], RDX, SLC26A4); 38...
  26. Suzuki S, Ishikawa M, Ueda T, Ohshiba Y, Miyasaka Y, Okumura K, et al. Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice. Exp Anim. 2015;64:241-51 pubmed publisher
    ..hearing loss of DBA/2J mice is caused by affects in the ahl (Cdh23(ahl)) and ahl8 (Fscn2(ahl8)) alleles of the cadherin 23 and fascin 2 genes, respectively...
  27. Sannigrahi M, Srinivas S, Rakshit S. The Prospects of Cadherin-23 as a Mediator of Homophilic Cell-Cell Adhesion. Adv Exp Med Biol. 2018;1112:99-105 pubmed publisher
    ..This review focuses on the role of "nonclassical" cadherin, cadherin-23, in cell-cell adhesion. Overall, this review highlights the need for further investigations on the role of "nonclassical" cadherin-23 in cell-cell adhesion. ..
  28. Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, et al. A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. Neurobiol Dis. 2018;115:157-166 pubmed publisher
    ..In humans, genetic mutations in the PMCA2 gene in association with cadherin 23 mutations have been linked to hearing loss phenotypes, while those occurring in the PMCA3 gene were associated ..
  29. Yang X, Zhou S, Wu J, Liao Q, Wang C, Liu M, et al. Surgery-free video-oculography in mouse models: enabling quantitative and short-interval longitudinal assessment of vestibular function. Neurosci Lett. 2019;696:212-218 pubmed publisher
    ..demonstrated on the mice with vestibular abnormalities caused by either genetic mutations (Lhfpl5-/- or Cdh23-/-) or applied vestibulotoxicant (3,3'-iminodipropionitrile, IDPN)...
  30. Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D Eustacchio A, Osland T, et al. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. Hear Res. 2015;320:18-23 pubmed publisher
    ..Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%)...
  31. Abdi S, Bahloul A, Behlouli A, Hardelin J, Makrelouf M, Boudjelida K, et al. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS ONE. 2016;11:e0161893 pubmed publisher
    ..Nine of the 17 different mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had ..
  32. Hwang J, Liu K, Wu C, Liu T. Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese. Otolaryngol Head Neck Surg. 2012;147:531-4 pubmed publisher
    Genetic variation of cadheri23 (cdh23; 753G>A in exon 7) has been implicated with age-related hearing impairment (ARHI) in mice...
  33. Hohman T, Bush W, Jiang L, Brown Gentry K, Torstenson E, Dudek S, et al. Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. Neurobiol Aging. 2016;38:141-150 pubmed publisher
    ..Finally, post hoc gene expression analyses of the implicated SNPs further implicate SIRT1 and ABCB1, and implicate CDH23 which was most recently identified as an AD risk locus in an epigenetic analysis of AD...
  34. Khan S, Javed M, Qasim M, Shahzadi S, Jalil A, Rehman S. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models. Bioinformation. 2014;10:491-5 pubmed publisher
    ..A mutation in any of these genes e.g. CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic ..
  35. Aparisi M, Aller E, Fuster García C, García García G, Rodrigo R, Vázquez Manrique R, et al. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014;9:168 pubmed publisher
    ..Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and ..
  36. Schultz J, Bhatti R, Madeo A, Turriff A, Muskett J, Zalewski C, et al. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011;48:767-75 pubmed publisher
    ..For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual ..
  37. Hu H, Li H, Li J, Yu J, Tan L. Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity. BMC Med Genet. 2018;19:75 pubmed publisher
    ..Although seven SNPs in SNX31, RORA, CDH23, RGS20, LRRC4C, MAPK6PS1 and LOC105378355 did not reach genome-wide significance (P < 10- 8), ..
  38. Hu J, Li B, Apisa L, Yu H, Entenman S, Xu M, et al. ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice. Cell Death Dis. 2016;7:e2485 pubmed publisher
    ..Recently, we have discovered that the erlong (erl) mutation of the cadherin23 (Cdh23) gene leads to hearing loss due to hair cell apoptosis...
  39. Zhao M, Li P, Xie Y, Liu X, Cheng L, Liu T, et al. Recombinant protein of the first two ectodomains of cadherin 23 from erl mice shows impairment in Ca2+-dependent proteolysis protection. Protein Expr Purif. 2018;147:55-60 pubmed publisher
    ..This project was carried out to express the first two ectodomains of cadherin 23 (CDH23 EC1+2) of erl mice in Escherichia coli and identify the Ca2+-binding ability of the ..
  40. Jaiganesh A, de la Torre P, Patel A, Termine D, Velez Cortes F, Chen C, et al. Zooming in on Cadherin-23: Structural Diversity and Potential Mechanisms of Inherited Deafness. Structure. 2018;26:1210-1225.e4 pubmed publisher
    Cadherin-23 (CDH23) is an essential component of hair-cell tip links, fine filaments that mediate inner-ear mechanotransduction...
  41. Dziuba N, Ferguson M, O Brien W, Sanchez A, Prussia A, McDonald N, et al. Identification of cellular proteins required for replication of human immunodeficiency virus type 1. AIDS Res Hum Retroviruses. 2012;28:1329-39 pubmed
    ..However, the genes presented in this study did not share identity with those found previously. Novel antiviral targets identified in this study should open new avenues for mechanistic investigation. ..
  42. Han X, Ge R, Xie G, Li P, Zhao X, Gao L, et al. Caspase-mediated apoptosis in the cochleae contributes to the early onset of hearing loss in A/J mice. ASN Neuro. 2015;7: pubmed publisher
    A/J and C57BL/6 J (B6) mice share a mutation in Cdh23 (ahl allele) and are characterized by age-related hearing loss. However, hearing loss occurs much earlier in A/J mice at about four weeks of age...
  43. Hu J, Xu M, Yuan J, Li B, Entenman S, Yu H, et al. Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. Neuroscience. 2016;316:311-20 pubmed publisher
    ..The recently identified novel mutation of the Cadherin23 (Cdh23) gene, Cdh23(erl/erl), was proven to be a mouse model of human autosomal recessive nonsyndromic deafness (DFNB12)...
  44. Sloan Heggen C, Babanejad M, Beheshtian M, Simpson A, Booth K, Ardalani F, et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015;52:823-9 pubmed publisher
    ..their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15...
  45. Powers R, Gaudet R, Sotomayor M. A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15. Structure. 2017;25:482-495 pubmed publisher
    ..Simulations predict that the partial Ca2+-free EC3-4 linker exhibits increased flexural flexibility without compromised mechanical strength, providing insight into the dynamics of tip links and other atypical cadherins. ..
  46. Lin S, Thorne P, Housley G, Vlajkovic S. Resistance to neomycin ototoxicity in the extreme basal (hook) region of the mouse cochlea. Histochem Cell Biol. 2018;150:281-289 pubmed publisher
    ..neomycin uptake and implied that the transduction channels could be impaired in the hook region of the developing mouse cochlea, possibly as a result of the cadherin 23 mutation responsible for the progressive deafness in C57BL/6 mice.
  47. Wang T, Yang J, Ji X, Chu M, Zhang R, Dai J, et al. Pathway analysis for a genome-wide association study of pneumoconiosis. Toxicol Lett. 2015;232:284-92 pubmed publisher
    ..001; FDR <0.001). The third mechanism was that rs11592462 modulates CDH23, which regulates organization of the inner ear stereocilia, auditory receptor cell morphogenesis, ear ..
  48. Nishio S, Usami S. Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. Ann Otol Rhinol Laryngol. 2015;124 Suppl 1:49S-60S pubmed publisher
    ..The number of GJB2 mutations was exceptionally high among these variants, followed by those in CDH23, SLC26A4, MYO15A, COL11A2, MYO7A, and OTOF...
  49. AtIk T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, et al. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PLoS ONE. 2015;10:e0142154 pubmed publisher
    ..different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72...
  50. Svidnicki M, Silva Costa S, Ramos P, Dos Santos N, Martins F, Castilho A, et al. Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology. BMC Med Genet. 2015;16:85 pubmed publisher
    ..Mutations in GJB2 gene were the most prevalent, followed by other mutations in in SLC26A4, CDH23, MT-RNR1, MYO15A, and OTOF genes...
  51. Nishio S, Takumi Y, Usami S. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res. 2017;348:87-97 pubmed publisher
    ..for Waardenburg Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of ..
  52. Pepermans E, Petit C. The tip-link molecular complex of the auditory mechano-electrical transduction machinery. Hear Res. 2015;330:10-7 pubmed publisher
    ..Tip-links are composed of cadherin-23 (Cdh23) and protocadherin-15 (Pcdh15), both non-conventional cadherins, that form the upper and the lower part of these ..
  53. Johnson K, Tian C, Gagnon L, Jiang H, Ding D, Salvi R. Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains. Sci Rep. 2017;7:44450 pubmed publisher
    A single nucleotide variant (SNV) of the cadherin 23 gene (Cdh23c.753A), common to many inbred mouse strains, accelerates age-related hearing loss (AHL) and can worsen auditory phenotypes of other mutations...
  54. Marcotti W, Corns L, Goodyear R, Rzadzinska A, Avraham K, Steel K, et al. The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI. J Physiol. 2016;594:3667-81 pubmed publisher
    ..We found that cadherin 23, a component of the hair bundle's transient lateral links, fails to be downregulated along the length of the ..
  55. Vanniya S P, Srisailapathy C, Kunka Mohanram R. The tip link protein Cadherin-23: From Hearing Loss to Cancer. Pharmacol Res. 2018;130:25-35 pubmed publisher
    ..studies have been carried out to understand the role of Cadherin-23 in the hearing mechanism and defects in the CDH23 have been associated with hearing impairment resulting from defective or absence of tip links...
  56. Wang Y, Liu Y, Nie H, Ma X, Xu Z. Alternative splicing of inner-ear-expressed genes. Front Med. 2016;10:250-7 pubmed publisher
    ..For example, exon 68 of Cadherin 23 (Cdh23) gene is subject to inner-ear-specific alternative splicing, and as a result, Cdh23(+ 68) is only ..
  57. Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, et al. Triple Vectors Expand AAV Transfer Capacity in the Retina. Mol Ther. 2018;26:524-541 pubmed publisher
    ..for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively...
  58. Wu L, Pan L, Zhang C, Zhang M. Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia. J Biol Chem. 2012;287:33460-71 pubmed
    ..We propose that the polymeric cadherin23/harmonin complex formed beneath the upper tip link membranes may serve as part of the stable rootlet structure for anchoring the tip links of stereocilia. ..
  59. Mianné J, Chessum L, Kumar S, Aguilar C, Codner G, Hutchison M, et al. Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair. Genome Med. 2016;8:16 pubmed publisher
    ..One such mutation is the Cdh23 (ahl) allele, present in several commonly used inbred mouse strains, which predisposes to age-related progressive ..
  60. Ben Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, et al. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Mol Vis. 2016;22:827-35 pubmed
    ..Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein ..
  61. Eandi C, Dallorto L, Spinetta R, Micieli M, Vanzetti M, Mariottini A, et al. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. Sci Rep. 2017;7:15681 pubmed publisher
    ..with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS...
  62. Yang L, Zhang H, Han X, Zhao X, Hu F, Li P, et al. Attenuation of hearing loss in DBA/2J mice by anti-apoptotic treatment. Hear Res. 2015;327:109-16 pubmed publisher
    DBA/2J mice are characterized by early onset hearing loss at about 3-4 weeks of age. Mutations in cadherin 23 (Cdh23) and fascin-2 (Fscn2) are responsible for the phenotypes, but the underlying mechanism is unknown...
  63. Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, et al. Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. FEBS Lett. 2017;591:2299-2310 pubmed publisher
  64. Choudhary D, Kumar A, Magliery T, Sotomayor M. Using thermal scanning assays to test protein-protein interactions of inner-ear cadherins. PLoS ONE. 2017;12:e0189546 pubmed publisher
    ..Tm) shifts of protocadherin-15 EC1+2 (pcdh15) in the presence of increasing concentrations of cadherin-23 EC1+2 (cdh23)...
  65. Sathiyanathan P, Tay C, Stanton L. Transcriptome analysis for the identification of cellular markers related to trabecular meshwork differentiation. BMC Genomics. 2017;18:383 pubmed publisher
    ..b>CDH23, F5, KCNAB1, FGF9, SPP1, and HEY1 were selected among the genes highly expressed in the TM, together with BDNF ..
  66. Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, et al. A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family. Int J Pediatr Otorhinolaryngol. 2018;104:108-112 pubmed publisher
    ..We identified a novel heterozygous variant of CDH23:c.4567A > G (p.Asn1523Asp) in exon 37 (NM_022124), in conjunction with a reported mutation of CDH23:c...
  67. Pan L, Yan J, Wu L, Zhang M. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Proc Natl Acad Sci U S A. 2009;106:5575-80 pubmed publisher
    ..We discovered that the N-domain specifically binds to a short internal peptide fragment of the cadherin 23 cytoplasmic domain...
  68. Alagramam K, Goodyear R, Geng R, Furness D, van Aken A, Marcotti W, et al. Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. PLoS ONE. 2011;6:e19183 pubmed publisher
    Immunocytochemical studies have shown that protocadherin-15 (PCDH15) and cadherin-23 (CDH23) are associated with tip links, structures thought to gate the mechanotransducer channels of hair cells in the sensory epithelia of the inner ear...
  69. Lagziel A, Overlack N, Bernstein S, Morell R, Wolfrum U, Friedman T. Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. Mol Vis. 2009;15:1843-57 pubmed
    We compared cadherin 23 (Cdh23) mRNA and protein variants in the inner ear and retina of wild-type and mutant mice and primates to better understand the pleiotropic effects of Cdh23 mutations, and specifically to understand the absence ..
  70. Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, et al. Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. Am J Hum Genet. 2017;100:817-823 pubmed publisher
    ..4136G>T (p.Arg1379Leu) in cadherin-related 23 (CDH23)...
  71. Terracciano A, Sanna S, Uda M, Deiana B, Usala G, Busonero F, et al. Genome-wide association scan for five major dimensions of personality. Mol Psychiatry. 2010;15:647-56 pubmed publisher
    ..of neuroticism with SNAP25 (rs362584, P=5 x 10(-5)), extraversion with BDNF and two cadherin genes (CDH13 and CDH23; Ps<5 x 10(-5)), openness with CNTNAP2 (rs10251794, P=3 x 10(-5)), agreeableness with CLOCK (rs6832769, P=9 x ..
  72. Branson S, McClintic J, Stamper T, Haldeman Englert C, John V. Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. Ophthalmic Surg Lasers Imaging Retina. 2016;47:183-6 pubmed publisher
    ..Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12)...
  73. Mock B, Vijayakumar S, Pierce J, Jones T, Jones S. Differential effects of Cdh23(753A) on auditory and vestibular functional aging in C57BL/6J mice. Neurobiol Aging. 2016;43:13-22 pubmed publisher
    The C57BL/6J (B6) mouse strain carries a cadherin 23 mutation (Cdh23(753A), also known as Ahl), which affects inner ear structures and results in age-related hearing loss. The B6...
  74. Nie H, Liu Y, Yin X, Cao H, Wang Y, Xiong W, et al. Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST. Neural Plast. 2016;2016:8580675 pubmed
    ..We have previously showed that PIST regulates the membrane expression of another tip-link component, cadherin 23 (CDH23)...
  75. Vanniya S P, Chandru J, Pavithra A, Jeffrey J, Kalaimathi M, Ramakrishnan R, et al. Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. Ann Hum Genet. 2017;: pubmed publisher
    Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population...
  76. Yoshimura H, Iwasaki S, Nishio S, Kumakawa K, Tono T, Kobayashi Y, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS ONE. 2014;9:e90688 pubmed publisher
    ..In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance. ..
  77. Tonjes A, Scholz M, Krüger J, Krause K, Schleinitz D, Kirsten H, et al. Genome wide meta-analysis identifies novel determinants of circulating serum progranulin. Hum Mol Genet. 2017;: pubmed publisher
    ..SNPs) at three loci reached study-wide significance (rs660240 in CELSR2-PSRC1-MYBPHL-SORT1, rs4747197 in CDH23-PSAP and rs5848 in GRN) explaining 19.4%/15...
  78. Blanchet C, Roux A, Hamel C, Ben Salah S, Artieres F, Faugère V, et al. [Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits]. Rev Laryngol Otol Rhinol (Bord). 2007;128:137-43 pubmed
    ..and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases; mutation in cadherin 23 gene in 6 cases)...
  79. Sliwinska Kowalska M, Noben Trauth K, Pawelczyk M, Kowalski T. Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise. Am J Hum Biol. 2008;20:481-3 pubmed publisher
    ..A candidate gene for susceptibility to noise-induced hearing loss (NIHL) is Cadherin 23 (CDH23)...
  80. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Results must be confirmed by direct sequencing to avoid misdiagnosis, and continuous updates of the microarray should be performed to increase the efficiency and rate of detection of mutations. ..
  81. Hackney C, Furness D. The composition and role of cross links in mechanoelectrical transduction in vertebrate sensory hair cells. J Cell Sci. 2013;126:1721-31 pubmed publisher
    ..It is thought that one type of cross link, the tip link, is composed of cadherin 23 and protocadherin 15, and gates the transduction channel when the bundle is deflected...
  82. Roux A, Faugère V, Le Guédard S, Pallares Ruiz N, Vielle A, Chambert S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43:763-8 pubmed
    ..The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for...
  83. Vink J, Smit A, de Geus E, Sullivan P, Willemsen G, Hottenga J, et al. Genome-wide association study of smoking initiation and current smoking. Am J Hum Genet. 2009;84:367-79 pubmed publisher
    ..g., NTRK2, GRB14), transporters (e.g., SLC1A2, SLC9A9) and cell-adhesion molecules (e.g., CDH23)...
  84. Shahzad M, Sivakumaran T, Qaiser T, Schultz J, Hussain Z, Flanagan M, et al. Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. Otolaryngol Head Neck Surg. 2013;149:478-87 pubmed publisher
    ..After genotyping, we focused on 34 families with potential linkage to MYO7A, CDH23, and SLC26A4...
  85. Woo H, Park H, Park M, Kim B, Shin J, Yoo W, et al. Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing. BMC Med Genet. 2014;15:46 pubmed publisher
    ..We identified compound heterozygous CDH23 mutations in hearing-loss genes of two families. These include two previously reported pathological mutations, p...
  86. Han C, Kim M, Ding D, Park H, White K, Walker L, et al. GSR is not essential for the maintenance of antioxidant defenses in mouse cochlea: Possible role of the thioredoxin system as a functional backup for GSR. PLoS ONE. 2017;12:e0180817 pubmed publisher
    ..mice that were backcrossed onto the CBA/CaJ mouse strain, a normal-hearing strain that does not carry a specific Cdh23 mutation that causes progressive hair cell degeneration and early onset of hearing loss...
  87. Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, et al. A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness. Proc Natl Acad Sci U S A. 2007;104:1516-21 pubmed
    ..The family also was screened for mutations in cadherin 23, which accentuated hearing loss in a previously described human family with a PMCA2 mutation...
  88. Tang X, Zhang Z, Hu D, Xu A, Zhou H, Sun L, et al. Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. J Invest Dermatol. 2013;133:403-10 pubmed publisher
    ..They also highlight similarities and differences in the genetic basis of vitiligo in Chinese and Caucasian populations. ..
  89. Aparisi M, García García G, Aller E, Sequedo M, Martinez Fernandez de la Camara C, Rodrigo R, et al. Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. PLoS ONE. 2013;8:e57506 pubmed publisher
    ..Four MYO7A (c.470G>A, c.1342_1343delAG, c.5856G>A and c.3652G>A), three CDH23 (c.2289+1G>A, c.6049G>A and c.8722+1delG) and one PCDH15 (c...
  90. Zhang R, Cao L, Wang Y, Fang Y, Zhao L, Li W, et al. A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees. Neurol Sci. 2017;38:2153-2164 pubmed publisher
    ..methylations clustered in pathways associated with epithelial-to-mesenchymal transition (ZEB2, SMAD6, and CDH23), folic acid/homocysteine metabolism (MTHFD1L), transcription/nuclear factors (HDAC4, HOXB7, SOX18), cell ..
  91. Baux D, Faugère V, Larrieu L, Le Guédard Méreuze S, Hamroun D, Beroud C, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008;29:E76-87 pubmed publisher
    ..a set of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  92. Kim S, Kim A, Kim N, Kim M, Jeon E, Kim B, et al. 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. J Transl Med. 2015;13:263 pubmed publisher
    Despite the prevalence of CDH23 mutations in East Asians, its large size hinders investigation. The pathologic mutation p.P240L in CDH23 is common in East Asians...