CDH23

Summary

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

Top Publications

  1. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
  2. ncbi Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
    F Di Palma
    Section on Murine Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA
    Nat Genet 27:103-7. 2001
  3. ncbi Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
  4. ncbi Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice
    S M Wilson
    Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Genomics 74:228-33. 2001
  5. pmc CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    L M Astuto
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Am J Hum Genet 71:262-75. 2002
  6. pmc Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    Batiste Boëda
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    EMBO J 21:6689-99. 2002
  7. ncbi Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
    Arjan P M de Brouwer
    Department of Otorhinolaryngology, University Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 112:156-63. 2003
  8. ncbi Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    Dominique Weil
    Unité de Génétique des Déficits Sensoriels, CNRS URA1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 12:463-71. 2003
  9. pmc Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    Qing Yin Zheng
    Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 14:103-11. 2005
  10. ncbi Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 116:292-9. 2005

Research Grants

  1. David P Corey; Fiscal Year: 2016
  2. Kenneth R Johnson; Fiscal Year: 2016
  3. Ulrich Mueller; Fiscal Year: 2016
  4. Jing Zheng; Fiscal Year: 2016
  5. FORCE SPECTROSCOPY AND STRUCTURAL BIOLOGY OF HAIR-CELL TIP LINKS
    Marcos Sotomayor; Fiscal Year: 2012
  6. TOMAS ALBERTO PROLLA; Fiscal Year: 2016
  7. Marcos Sotomayor; Fiscal Year: 2015
  8. Calmodulin Regulation of Hair-Cell Myosin-1c
    KELLI PHILLIPS; Fiscal Year: 2006
  9. Cdh23 Splicing in Hair Cell Development and Function
    STUART WEBB; Fiscal Year: 2008
  10. The Mouse as a Tool for Ear Research
    Kenneth Johnson; Fiscal Year: 2003

Scientific Experts

Detail Information

Publications146 found, 100 shown here

  1. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22...
  2. ncbi Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
    F Di Palma
    Section on Murine Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA
    Nat Genet 27:103-7. 2001
    ..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 ..
  3. ncbi Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
    ..Using a positional candidate approach, we identified a new member of the cadherin gene superfamily, CDH23. It encodes a protein of 3,354 amino acids with a single transmembrane domain and 27 cadherin repeats...
  4. ncbi Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice
    S M Wilson
    Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Genomics 74:228-33. 2001
    ..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.
  5. pmc CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    L M Astuto
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Am J Hum Genet 71:262-75. 2002
    ..Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for ..
  6. pmc Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    Batiste Boëda
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    EMBO J 21:6689-99. 2002
    ..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...
  7. ncbi Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
    Arjan P M de Brouwer
    Department of Otorhinolaryngology, University Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 112:156-63. 2003
    ..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...
  8. ncbi Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    Dominique Weil
    Unité de Génétique des Déficits Sensoriels, CNRS URA1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 12:463-71. 2003
    ..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, ..
  9. pmc Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    Qing Yin Zheng
    Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 14:103-11. 2005
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  10. ncbi Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 116:292-9. 2005
    ..Approximatelly 35-39% of the observed mutations involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G...
  11. ncbi Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development
    Ayala Lagziel
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Dev Biol 280:295-306. 2005
    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...
  12. ncbi Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum
    Richard K McHugh
    Section on Hereditary Disorders of the Ear, House Ear Institute, Los Angeles, California 90057, USA
    Anat Rec A Discov Mol Cell Evol Biol 288:370-81. 2006
    ..One of these genes, cadherin 23, produces a spectrum of phenotypic traits, including presbycusis, nonsyndromic prelingual hearing loss (DFNB12),..
  13. ncbi Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
    M Wagatsuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Clin Genet 72:339-44. 2007
    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 ..
  14. doi Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
    Elvir Becirovic
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Hum Mutat 29:452. 2008
    ..Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the ..
  15. pmc Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I
    A Oshima
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Hum Mutat 29:E37-46. 2008
    Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss...
  16. pmc Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members
    Heather M Elledge
    Department of Cell Biology and Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 107:10708-12. 2010
    ..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...
  17. doi Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
    Hiroshi Nakanishi
    Department of Otolaryngology, Hamamatsu University School of Medicine, 1 20 1 Handayama, Higashi ku, Hamamatsu, Japan
    J Hum Genet 55:796-800. 2010
    ..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...
  18. pmc Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    PLoS ONE 7:e40366. 2012
    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...
  19. pmc The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
    Jan Siemens
    Friedrich Miescher Institute, Maulbeerstrasse 66, 4058 Basel, Switzerland
    Proc Natl Acad Sci U S A 99:14946-51. 2002
    ..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...
  20. doi The responsible genes in Japanese deafness patients and clinical application using Invader assay
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Acta Otolaryngol 128:446-54. 2008
    ..Screening revealed that in Japanese, mutations in GJB2, SLC26A4, and CDH23, and the mitochondrial 12S rRNA are the major causes of hearing loss...
  21. pmc Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans
    Fabio Demontis
    Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany
    PLoS ONE 4:e4753. 2009
    ..USH1, the most severe subtype, is associated with mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15, and sans...
  22. pmc Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D
    Ayala Lagziel
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Mol Vis 15:1843-57. 2009
    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 ..
  23. ncbi Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice
    Ralph H Holme
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, UK
    Hear Res 169:13-23. 2002
    Mutations in myosin VIIa (Myo7a) and cadherin 23 (Cdh23) cause deafness in shaker1 (sh1) and waltzer (v) mouse mutants respectively...
  24. ncbi Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice
    Agnieszka K Rzadzinska
    Section on Structural Cell Biology, Laboratory of Cellular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Hear Res 208:114-21. 2005
    b>Cadherin 23 encodes a single-pass transmembrane protein with 27 extracellular cadherin-domains and localizes to stereocilia where it functions as an inter-stereocilia link...
  25. pmc Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation
    Ralph H Holme
    MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK
    J Assoc Res Otolaryngol 5:66-79. 2004
    ..Mice homozygous for null mutations in either the myosin VIIa ( Myo7a) or cadherin 23 ( Cdh23) genes are deaf and have disorganized stereocilia bundles...
  26. ncbi Temporal and genetic influences on protection against noise-induced hearing loss by hypoxic preconditioning in mice
    Patricia M Gagnon
    Washington University Medical School, Department of Otolaryngology, 660 S Euclid, St Louis, MO 63110, USA
    Hear Res 226:79-91. 2007
    ..No protection was found in C57BL/6 (B6) mice, their B6.CAST-Cdh23(CAST) (B6...
  27. pmc Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Genome Biol 8:R47. 2007
    ..We hypothesized that founder mutations in USH1 genes exist in this population...
  28. pmc A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness
    R Ficarella
    Telethon Institute of Genetics and Medicine, 80131 Naples, Italy
    Proc Natl Acad Sci U S A 104:1516-21. 2007
    ..The family also was screened for mutations in cadherin 23, which accentuated hearing loss in a previously described human family with a PMCA2 mutation...
  29. pmc Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model
    Lili Zheng
    Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
    J Neurosci 30:7187-201. 2010
    ..The stereociliary link protein cadherin 23 (Cdh23) was targeted to the plasma membrane of CL4 cell microvilli, the topological equivalent of stereocilia...
  30. pmc Identifying components of the hair-cell interactome involved in cochlear amplification
    Jing Zheng
    Department of Communication Sciences and Disorders, The Hugh Knowles Center, Northwestern University, Evanston, IL 60208, USA
    BMC Genomics 10:127. 2009
    ..Therefore, we focused on finding protein partners for two important membrane proteins: Cadherin 23 (cdh23) and prestin...
  31. pmc Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells
    Richard J Goodyear
    School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9QG, United Kingdom
    J Comp Neurol 518:4288-97. 2010
    b>Cadherin 23 and protocadherin 15 are components of tip links, fine filaments that interlink the stereocilia of hair cells and are believed to gate the hair cell's mechanotransducer channels...
  32. ncbi Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)
    Jan Reiners
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany
    Mol Vis 11:347-55. 2005
    ..Recent studies indicated that three USH1 proteins, namely myosin VIIa (USH1B), SANS (USH1G), and cadherin 23 (USH1D) interact with the USH1C gene product harmonin...
  33. ncbi Bardet-Biedl syndrome and Usher syndrome
    Rainer Koenig
    Institute of Human Genetics, University Hospital, Frankfurt am Main, Germany
    Dev Ophthalmol 37:126-40. 2003
    ..Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified...
  34. ncbi Interactions in the network of Usher syndrome type 1 proteins
    Avital Adato
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 14:347-56. 2005
    Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1)...
  35. ncbi Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice
    Kelli R Phillips
    Sensory Neuroscience Research Center, West Virginia University School of Medicine, Morgantown, West Virginia 26506 9303, USA
    J Neurosci 26:10777-88. 2006
    ..data indicate that Myo1c interacts in vitro with two other molecules proposed to be important for transduction: cadherin 23 (Cdh23), a candidate for the stereociliary tip link, and phosphatidylinositol 4,5-bisphosphate (PIP2), which is ..
  36. ncbi [Genetic factors in susceptibility to age- and noise-related hearing loss]
    Mariola Sliwińiska-Kowalska
    Institut Medycyny Pracy w łodzi, Klinika Audiologii i Foniatrii oraz Zakład ZagroZeń Fizycznych
    Pol Merkur Lekarski 21:384-8. 2006
    ..In mice ahl codes for cadherin (CDH) proteins. The cadherin of interest is named otocadherin or CDH23, and it is localized to the links between stereocilia of hair cells...
  37. pmc The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice
    Mario Bortolozzi
    Department of Physics G Galilei, University of Padua, Padua 35131, Italy
    J Biol Chem 285:37693-703. 2010
    ....
  38. pmc MAGI-1, a candidate stereociliary scaffolding protein, associates with the tip-link component cadherin 23
    Zhigang Xu
    Department of Otolaryngology Head and Neck Surgery, Stanford University School of Medicine, Stanford, California 94305, USA
    J Neurosci 28:11269-76. 2008
    ..connectors implicated in gating the mechanoelectrical transduction channels, is the transmembrane protein cadherin 23 (Cdh23), more specifically, the hair- cell-specific Cdh23(+68) splice variant...
  39. pmc Tip links in hair cells: molecular composition and role in hearing loss
    Hirofumi Sakaguchi
    Department of Otolaryngology Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan
    Curr Opin Otolaryngol Head Neck Surg 17:388-93. 2009
    ..The molecules that form tip links have recently been identified, and the analysis of their properties has not only changed our view of MET but also suggests that tip-link defects can cause hearing loss...
  40. ncbi Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells
    Christian Sollner
    Max Planck Institut fur Entwicklungsbiologie, Spemannstrasse 35, 72076 Tubingen, Germany
    Nature 428:955-9. 2004
    ..Here we show that the defects in sputnik mutants are caused by mutations in cadherin 23 (cdh23)...
  41. ncbi Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
    Aziz El-Amraoui
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    J Cell Sci 118:4593-603. 2005
    Defects in myosin VIIa, the PDZ-domain-containing protein harmonin, cadherin 23 and protocadherin 15 (two cadherins with large extracellular regions), and the putative scaffolding protein Sans underlie five genetic forms of Usher ..
  42. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan Reiners
    Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
    Exp Eye Res 83:97-119. 2006
    ..known USH1 molecules: the molecular motor myosin VIIa (USH1B); the two cell-cell adhesion cadherin proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G)...
  43. ncbi Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
    Piotr Kazmierczak
    The Scripps Research, Institute Department of Cell Biology, La Jolla, California 92037, USA
    Nature 449:87-91. 2007
    ..Immunohistochemical studies using rodent hair cells show that cadherin 23 (CDH23) and protocadherin 15 (PCDH15) localize to the upper and lower part of tip links, respectively...
  44. ncbi Usher syndrome: from genetics to pathogenesis
    C Petit
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968 Institut Pasteur, Paris, Cedex 15, 75724 France
    Annu Rev Genomics Hum Genet 2:271-97. 2001
    ..Four genes have been identified, namely, USH1B, USH1C, USH1D, and USH2A...
  45. pmc Harmonin mutations cause mechanotransduction defects in cochlear hair cells
    Nicolas Grillet
    Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, CA 92037, USA
    Neuron 62:375-87. 2009
    In hair cells, mechanotransduction channels are gated by tip links, the extracellular filaments that consist of cadherin 23 (CDH23) and protocadherin 15 (PCDH15) and connect the stereocilia of each hair cell...
  46. doi Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
    Sandie Le Guédard-Méreuze
    Universite Montpellier 1, UFR Medecine, Montpellier, France
    Hum Mutat 31:347-55. 2010
    ..led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes...
  47. ncbi Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
    Hanno Bolz
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Mol Vis 11:929-33. 2005
    ..Therefore we searched for a human retinal phenotype associated with mutations in the orthologous human gene, PCDH21...
  48. doi Cadherin 23-like polypeptide in hair bundle mechanoreceptors of sea anemones
    Glen M Watson
    Department of Biology, University of Louisiana at Lafayette, Lafayette, LA 70504 2451, USA
    J Comp Physiol A Neuroethol Sens Neural Behav Physiol 194:811-20. 2008
    We investigated hair bundle mechanoreceptors in sea anemones for a homolog of cadherin 23. A candidate sequence was identified from the database for Nematostella vectensis that has a shared lineage with vertebrate cadherin 23s...
  49. pmc The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins
    Jing Yan
    Department of Biochemistry, Molecular Neuroscience Center, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Proc Natl Acad Sci U S A 107:4040-5. 2010
    ..Harmonin also binds to other USH1 proteins such as cadherin 23 (CDH23) and protocadherin 15 (PCDH15)...
  50. pmc Identification of cellular proteins required for replication of human immunodeficiency virus type 1
    Natallia Dziuba
    Department of Internal Medicine, University of Texas Medical Branch, Galveston, USA
    AIDS Res Hum Retroviruses 28:1329-39. 2012
    ..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...
  51. pmc The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells
    Greta Glover
    Oregon Hearing Research Center and Vollum Institute, HHMI Oregon Health and Science University, Portland, OR 97219, USA
    Mol Vis 18:2309-22. 2012
    To characterize the expression pattern of cadherin 23 (cdh23) in the zebrafish visual system, and to determine whether zebrafish cdh23 mutants have retinal defects similar to those present in the human disease Usher syndrome 1D.
  52. pmc Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice
    Yuki Miyasaka
    Mammalian Genetics Project, Tokyo Metropolitan Institute of Medical Science, 2 1 6 Kamikitazawa, Setagaya Ku, Tokyo 156 8506, Japan
    Exp Anim 62:333-46. 2013
    The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by congenital deafness, vestibular dysfunction, and prepubertal onset of progressive retinitis ..
  53. pmc Protocol for sortase-mediated construction of DNA-protein hybrids and functional nanostructures
    Mounir A Koussa
    Program in Neuroscience, Department of Neurobiology, Harvard Medical School, Boston, MA, United States
    Methods 67:134-41. 2014
    ..These structures will enable a new class of functional nanostructures, which could be used for therapeutic and industrial processes. ..
  54. pmc Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium
    Timothy J Hohman
    Vanderbilt Memory and Alzheimer s Center, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA
    Neurobiol Aging 38:141-50. 2016
    ..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...
  55. ncbi Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23)
    F Di Palma
    Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Gene 281:31-41. 2001
    ..We recently showed that cadherins also play important roles in the inner ear; mutations in cadherin 23 (Cdh23) disrupt stereocilia organization on hair cells leading to deafness and vestibular dysfunction in ..
  56. pmc The structure of tip links and kinocilial links in avian sensory hair bundles
    Vladimir Tsuprun
    Department of Otolaryngology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Biophys J 87:4106-12. 2004
    ..links of sensory hair bundles in the inner ear have similar properties and share a common epitope, and that cadherin 23 may also be a component of each link type...
  57. ncbi Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region
    Satoshi Yonezawa
    Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
    Hum Mutat 27:88-97. 2006
    ..RT-PCR-based screening for the presence of mutations in mouse Cdh23, the gene responsible for the waltzer phenotype, has identified a G>A mutation in the donor splice site of ..
  58. pmc 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%
    A F Roux
    J Med Genet 43:763-8. 2006
    ..Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction...
  59. ncbi Redox-dependent structural ambivalence of the cytoplasmic domain in the inner ear-specific cadherin 23 isoform
    Satoshi Yonezawa
    Department of Developmental Biology, Institute for Developmental Research, Aichi Human Service Center, Kasugai 480 0392, Japan
    Biochem Biophys Res Commun 366:92-7. 2008
    b>Cadherin 23 (Cdh23), an essential factor in inner ear mechano-electric transduction, exists in two alternatively spliced forms, Cdh23(+68) and Cdh23(-68), depending on the presence and absence of exon 68. Cdh23(+68) is inner ear-specific...
  60. pmc A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
    Qing Yin Zheng
    Department of Otolaryngology HNS, Case Western Reserve University, 11100 Euclid Avenue, LKS 5045, Cleveland, OH 44106, USA
    Neurobiol Aging 30:1693-705. 2009
    The ahl locus, shown to be a strain-specific Cdh23 dimorphism, contributes to age-related hearing loss in many inbred mouse strains...
  61. pmc Cadherins and mechanotransduction by hair cells
    Ulrich Muller
    Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, CA 92037, USA
    Curr Opin Cell Biol 20:557-66. 2008
    ..These studies show that cadherin 23 (CDH23) and protocadherin 15 (PCDH15) form several of the extracellular filaments that connect the stereocilia ..
  62. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
    To determine whether cadherin 23 and protocadherin 15 can substitute for one another in the maintenance of the retina and other tissues in the mouse. Does homozygosity for both v and av mutant alleles (i.e...
  63. pmc Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15
    Andrea Lelli
    Departments of Neuroscience and Otolaryngology, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA
    J Neurosci 30:11259-69. 2010
    ..that tip links are formed by calcium-dependent interactions between the N-terminal domains of cadherin-23 (CDH23) and protocadherin-15 (PCDH15)...
  64. doi Ca2+ homeostasis defects and hereditary hearing loss
    Fabio Mammano
    Department of Physics G Galilei, University of Padova, Italy
    Biofactors 37:182-8. 2011
    ....
  65. doi Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    J Med Genet 48:767-75. 2011
    ..For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual ..
  66. pmc Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice
    Kelly L Kane
    The Jackson Laboratory, Bar Harbor, 600 Main Street, ME 04609, USA
    Hear Res 283:80-8. 2012
    Inbred strain variants of the Cdh23 gene have been shown to influence the onset and progression of age-related hearing loss (AHL) in mice...
  67. doi Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population
    Xian Fa Tang
    Department of Dermatology and Venereology, Anhui Medical University, Hefei, China
    J Invest Dermatol 133:403-10. 2013
    ..They also highlight similarities and differences in the genetic basis of vitiligo in Chinese and Caucasian populations...
  68. doi A novel QTL underlying early-onset, low-frequency hearing loss in BXD recombinant inbred strains
    A P Nagtegaal
    Department of Neuroscience
    Genes Brain Behav 11:911-20. 2012
    ..In search for hearing loss genes other than Cadherin 23 (otocadherin) and fascin-2, which make a large contribution to the high-frequency deficits, we used a large set of the ..
  69. pmc Cadherin-23 may be dynamic in hair bundles of the model sea anemone Nematostella vectensis
    Pei Ciao Tang
    Department of Biology, University of Louisiana at Lafayette, Lafayette, Louisiana, United States of America
    PLoS ONE 9:e86084. 2014
    b>Cadherin 23 (CDH23), a component of tip links in hair cells of vertebrate animals, is essential to mechanotransduction by hair cells in the inner ear. A homolog of CDH23 occurs in hair bundles of sea anemones...
  70. pmc Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis
    Bernardo Blanco-Sanchez
    Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA
    Dis Model Mech 7:547-59. 2014
    ..We adapted a proximity ligation assay to analyze associations among three of the USH proteins, Cdh23, Harmonin and Myo7aa, and the microtubule-based transporter Ift88 in zebrafish inner ear mechanosensory hair cells...
  71. pmc Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
    Hae Mi Woo
    Division of Intractable Diseases, Center for Biomedical Sciences, National Institute of Health, Chungcheongbuk do 363 951, South Korea
    BMC Med Genet 15:46. 2014
    ..The purpose of the present study was to identify a hitherto unknown mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) in Korean families...
  72. pmc Genome-wide association study of kidney function decline in individuals of European descent
    Mathias Gorski
    1 Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany 2 Department of Nephrology, University Hospital Regensburg, Regensburg, Germany
    Kidney Int 87:1017-29. 2015
    ..In stage 1 GWAS meta-analysis, single-nucleotide polymorphisms (SNPs) at MEOX2, GALNT11, IL1RAP, NPPA, HPCAL1, and CDH23 showed the strongest associations for at least one trait, in addition to the known UMOD locus, which showed genome-..
  73. pmc Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family
    Somayeh Reiisi
    Department of Genetics, Faculty of Basic Sciences, University of Shahrekord, Shahrekord, Iran
    Iran J Basic Med Sci 19:772-8. 2016
    ..For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.
  74. ncbi Clinical presentation of DFNB12 and Usher syndrome type 1D
    Julie M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:145-52. 2002
  75. pmc Usher protein functions in hair cells and photoreceptors
    Dominic Cosgrove
    Boys Town National Research Hospital, Omaha, NE, USA Electronic address
    Int J Biochem Cell Biol 46:80-9. 2014
    ..In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the ..
  76. pmc A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice
    Siwei Liu
    Department of Otolaryngology HNS, Case Western Reserve University, Cleveland, OH 44106, USA
    Gene 499:309-17. 2012
    b>Cadherin 23 (CDH23) is an important constituent of the hair cell tip link in the organ of Corti. Mutations in cdh23 are associated with age-related hearing loss (AHL)...
  77. doi Hair cells, plasma membrane Ca²⁺ ATPase and deafness
    Marta Giacomello
    Venetian Institute of Molecular Medicine, Via G Orus, 2, 35129 Padua, Italy
    Int J Biochem Cell Biol 44:679-83. 2012
    ..They are organized in bundles by tip-link filaments composed of cadherin 23 and protocadherin 15...
  78. pmc Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes
    Qing Yin Zheng
    Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    Hum Mol Genet 21:2588-98. 2012
    ..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
  79. pmc Cadherin-23 mediates heterotypic cell-cell adhesion between breast cancer epithelial cells and fibroblasts
    Maria Apostolopoulou
    Department of Biology and Center for Biotechnology and Interdisciplinary Studies, Rensselaer Polytechnic Institute, Troy, New York, United States of America
    PLoS ONE 7:e33289. 2012
    ..Finally, we show that cadherin-23 is upregulated in breast cancer tissue samples, and we hypothesize that heterotypic adhesions mediated by this atypical cadherin may play a role in the early stages of metastasis...
  80. pmc Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Acta Otolaryngol 132:377-84. 2012
    b>CDH23 mutations and the 1555A>G mitochondrial mutation were identified among our series of electric acoustic stimulation (EAS) patients, confirming that these genes were important in hearing loss with involvement of high frequency...
  81. pmc Parallel evolution of auditory genes for echolocation in bats and toothed whales
    Yong Yi Shen
    State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
    PLoS Genet 8:e1002788. 2012
    ..Herein, we screen three genes that play different roles in this auditory system. Cadherin 23 (Cdh23) and its ligand, protocadherin 15 (Pcdh15), are essential for bundling motility in the sensory hair...
  82. pmc Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice
    Iman Sahly
    Institut de la Vision, Syndrome de Usher et autres Atteintes Rétino Cochléaires, 75012 Paris, France
    J Cell Biol 199:381-99. 2012
    ..We suggest that USH1 proteins form an adhesion belt around the basolateral region of the photoreceptor outer segment in humans, and that defects in this structure cause the retinal degeneration in USH1 patients...
  83. doi The composition and role of cross links in mechanoelectrical transduction in vertebrate sensory hair cells
    Carole M Hackney
    Department of Biomedical Science, University of Sheffield, Western Bank, Sheffield, South Yorkshire, S10 2TN, UK
    J Cell Sci 126:1721-31. 2013
    ..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...
  84. pmc Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells
    Artur A Indzhykulian
    Department of Physiology, University of Kentucky, Lexington, Kentucky, United States of America
    PLoS Biol 11:e1001583. 2013
    ..Current models postulate a static composition of the tip link, with protocadherin 15 (PCDH15) at the lower and cadherin 23 (CDH23) at the upper end of the link...
  85. pmc Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    PLoS ONE 8:e71381. 2013
    ..that those in GJB2 were exceptionally higher, followed by mutations in SLC26A4, USH2A, GPR98, MYO15A, COL4A5 and CDH23. The present data suggested that targeted exon sequencing of selected genes using the MPS technology followed by ..
  86. ncbi Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
    S Wayne
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    Hum Mol Genet 5:1689-92. 1996
    ..The location of the Ush1D gene was defined by the only region showing homozygosity by descent in the affected siblings, a 15 cM interval on ..
  87. ncbi Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10
    E Zobeley
    Mental Health Research Institute, University of Michigan, Ann Arbor 48109 0720, USA
    Genomics 50:260-6. 1998
    ..av had been discussed as a potential mouse model for the human deafness loci Usher syndrome type ID (USH1D) and DFNB12...
  88. ncbi The usher syndromes
    B J Keats
    Department of Biometry and Genetics, LSU Medical Center, New Orleans, LA 70112, USA
    Am J Med Genet 89:158-66. 1999
    ..Seven other USH genes have been mapped but have not yet been identified. USH1A, USH1C, USH1D, USH1E, and USH1F have been assigned to chromosome bands 14q32, 11p15...
  89. ncbi High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v)
    E C Bryda
    Department of Microbiology, Immunology and Molecular Genetics, Huntington, West Virginia 25704, USA
    Genomics 73:338-42. 2001
    ..In this report we present a high-resolution integrated genetic and physical map of mdfw and Cdh23(v). Our genetic analyses localize mdfw between markers D10Mit60 and 148M13T7 within a 1.01-cM region...
  90. ncbi Haplotype analysis of the USH1D locus and genotype-phenotype correlations
    X Z Liu
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA, USA
    Clin Genet 60:58-62. 2001
    ..Two of these families, one Pakistani and one Turkish, demonstrated linkage to the USH1D locus. In another family, haplotype segregation was consistent with linkage to USH1C...
  91. ncbi Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs
    D Nakajima
    Department of Human Gene Research, Kazusa DNA Research Institute, 1532 3 Yana, Kisarazu, 292 0812, Chiba, Japan
    Brain Res Mol Brain Res 94:85-95. 2001
    ....
  92. ncbi The molecular genetics of Usher syndrome
    Z M Ahmed
    National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
    Clin Genet 63:431-44. 2003
    ..the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding ..
  93. pmc Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
    Konrad Noben-Trauth
    Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Nat Genet 35:21-3. 2003
    ..We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler)...
  94. pmc Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:3075-86. 2003
    ..been shown to bind, by means of its PDZ-domains, with the products of other Usher syndrome genes, including Myo7a, Cdh23 and Sans...
  95. ncbi Genetic influences in individual susceptibility to noise: a review
    R R Davis
    Hearing Loss Prevention Section, National Institute for Occupational Safety and Health, 4676 Columbia Parkway, Cincinnati, OH 45226, USA
    Noise Health 5:19-28. 2003
    ..The cadherin of interest named otocadherin or CDH23, is localized to the stereocillia of the outer hair cells...
  96. ncbi Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration
    Richard T Libby
    MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD, UK
    Exp Eye Res 77:731-9. 2003
    Mutations in the cadherin 23 gene (CDH23) cause Usher syndrome type 1D in humans, a disease that results in retinitis pigmentosa and deafness. Cdh23 is also mutated in the waltzer mouse...
  97. ncbi Cadherin 23 is a component of the tip link in hair-cell stereocilia
    Jan Siemens
    The Scripps Research Institute, Department of Cell Biology, Institute for Childhood and Neglected Disease, La Jolla, California 92037, USA
    Nature 428:950-5. 2004
    ..One molecule that might participate in mechanoelectrical transduction is cadherin 23 (CDH23), as mutations in its gene cause deafness and age-related hearing loss...
  98. ncbi Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
    Otol Neurotol 25:699-706. 2004
    To describe the findings of audiovestibular and ophthalmologic examinations in four families with mutations in the CDH23 gene.
  99. ncbi Genetic heterogeneity in Usher syndrome
    Bronya J B Keats
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA
    Am J Med Genet A 130:13-6. 2004
    ..The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin...
  100. ncbi Modification of human hearing loss by plasma-membrane calcium pump PMCA2
    Julie M Schultz
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 352:1557-64. 2005
    ..Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-..
  101. ncbi Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing
    Josef Finsterer
    Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Int J Pediatr Otorhinolaryngol 69:621-47. 2005
    ..but also autosomal recessive, nonsyndromic HIH (GJB2, GJB6, MYO6, MYO7A, TECTA, TMC1), and even syndromic HIH (CDH23, COL11A2, DPP1, DSPP, GJB2, GJB3, GJB6, MYO7A, MYH9, PCDH15, POU3F4, SLC26A4, USH1C, WFS1)...

Research Grants27

  1. David P Corey; Fiscal Year: 2016
    ..provided by applicant): This work is designed to understand how proteins encoded by two deafness genes-cadherin 23 and protocadherin 15-assemble to form the mechanosensory apparatus of hair cells in the auditory and vestibular ..
  2. Kenneth R Johnson; Fiscal Year: 2016
    ..is to complete the analysis of genetically engineered knock-in mice to verify that a splice variant of the cadherin 23 gene (Cdh23) underlies ahl, a variant conferring AHL susceptibility to multiple inbred strains, and to ..
  3. Ulrich Mueller; Fiscal Year: 2016
    ..We propose here to study the function of the cell adhesion molecules cadherin 23 (CDH23) and protocadherin 15 (PCDH15) in hair cell function and disease...
  4. Jing Zheng; Fiscal Year: 2016
    ..Marshalin is a microtubule-minus-end binding protein that we identified as a potential CDH23-associated protein...
  5. FORCE SPECTROSCOPY AND STRUCTURAL BIOLOGY OF HAIR-CELL TIP LINKS
    Marcos Sotomayor; Fiscal Year: 2012
    ....
  6. TOMAS ALBERTO PROLLA; Fiscal Year: 2016
    ..Because our previous studies have been performed in B6 mice that carry a cdh23 mutation, we propose to test the role of Bak in two models of AHL that carry a wild-type cdh23 locus, B6...
  7. Marcos Sotomayor; Fiscal Year: 2015
    ..Results wil provide in silico and in vitro platforms to test models of MS channel activation and clarify the controversial role of membrane tension in inner-ear mechanotransduction. ..
  8. Calmodulin Regulation of Hair-Cell Myosin-1c
    KELLI PHILLIPS; Fiscal Year: 2006
    ..Myo1c has also been shown to interact, in a tissue culture cell line, with cadherin 23 (Cdh23), a cell-adhesion protein recently shown to be part of the transduction complex...
  9. Cdh23 Splicing in Hair Cell Development and Function
    STUART WEBB; Fiscal Year: 2008
    ..Therefore, I propose to study the hair cell specific alternative splicing of Cdh23, a gene which has been linked to deafness in humans and mice...
  10. The Mouse as a Tool for Ear Research
    Kenneth Johnson; Fiscal Year: 2003
    ..abstract_text> ..
  11. COCHLEAR VULNERABILITY/REACTIVE OXYGEN SPECIES
    KEVIN OHLEMILLER; Fiscal Year: 2003
    ..Our experiments will establish how well the dynamics of ROS production predict cochlear injury, and whether progressive deafness genes may impair cochlear ROS regulation. ..
  12. The Mouse as an Instrument for Ear Research II
    Kenneth Johnson; Fiscal Year: 2005
    ..Ultimately, this meeting will bring students and established investigators, with varying expertise and experience, together to discuss their research findings, identify areas of common research interest and develop future directions. ..
  13. Genetic Modulation of Noise Injury to the Cochlear Lateral Wall
    KEVIN OHLEMILLER; Fiscal Year: 2009
    ..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..
  14. Genetic Modulation of Noise Injury to the Cochlear Lateral Wall
    KEVIN OHLEMILLER; Fiscal Year: 2007
    ..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..
  15. The Mouse as an Instrument in Hearing Research III
    Kenneth Johnson; Fiscal Year: 2008
    ..Promoting the responsible use of appropriate models is critical to the development of effective new therapeutic approaches to treating human disease. [unreadable] [unreadable] [unreadable] [unreadable]..
  16. NIHL Proteomics
    Kumar Alagramam; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  17. Quantifying Hair Bundle Components
    Peter Gillespie; Fiscal Year: 2008
    ..abstract_text> ..
  18. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue Liu; Fiscal Year: 2002
    ..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
  19. Investigating the nature of prestin-associated proteins
    Jing Zheng; Fiscal Year: 2007
    ..This knowledge may make it possible to manipulate OHC function for therapeutic purposes. ..
  20. ROLE OF CALCIUM PUMPING IN HAIR-BUNDLE FUNCTION
    Peter Gillespie; Fiscal Year: 2004
    ..If re-expression of PMCA2 in hair cells rescues auditory function in these otherwise PMCA2-deficient mice, the key location of PMCA2 in the ear must be the hair cell. ..
  21. HAIR-BUNDLE PROTEOMICS
    Peter Gillespie; Fiscal Year: 2004
    ..These experiments will allow us to identify the major proteins of the bundle and allow us to focus on proteins functionally important for bundle function. ..
  22. Target Proteins for Linkages in Membranes of Hair Cells
    GLEN WATSON; Fiscal Year: 2003
    ..This information will likely lead to a better understanding of the molecular basis of certain forms of deafness and balance disorders. ..
  23. GENETICS OF A NEW MOUSE MODEL FOR DEAFNESS
    Qing Zheng; Fiscal Year: 2002
    ..Aim 2. Construct a physical contig of YACS and BACS clones across the minimal genetic region. Aim 3. Fully characterize the development and pathology of inner ears from hml/hml mice compared with hml/+ and +/+ controls. ..
  24. ID OF THE MOUSE DEAFNESS (DN) GENE ON CHROMOSOME 19
    Bronya Keats; Fiscal Year: 2002
    ..The deafness mouse is a model for nonsyndromic profound hearing impairment, and identifying the defective gene will be a valuable contribution to our understanding of the genes needed for normal cochlear function. ..
  25. Transcriptome and Proteome Analysis of Mouse Inner Ears
    Qing Zheng; Fiscal Year: 2007
    ..Genes, proteins and their molecular pathways identified in this proposed research are potential targets of drug therapies for hearing loss that affects more than 28 million Americans. ..
  26. Hair-Bundle Lipids
    Peter Gillespie; Fiscal Year: 2009
    ..Together, the experiments in this proposal will allow us to determine how lipids regulate transduction and adaptation. ..
  27. Molecular Genetics of Deafness in the Ames Waltzer Model
    Kumar Alagramam; Fiscal Year: 2005
    ..Additionally, we also plan to identify proteins that interact with the protein encoded by Pcdh15. ..