deafness

Summary

Summary: A general term for the complete loss of the ability to hear from both ears.

Top Publications

  1. ncbi How the genetics of deafness illuminates auditory physiology
    Guy P Richardson
    School of Life Sciences, University of Sussex, Brighton, United Kingdom
    Annu Rev Physiol 73:311-34. 2011
  2. ncbi Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
    Sedigheh Delmaghani
    Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
    Hum Mol Genet 21:3835-44. 2012
  3. pmc Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness
    Nuno Raimundo
    Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA
    Cell 148:716-26. 2012
  4. ncbi Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
    S I Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Clin Genet 72:546-50. 2007
  5. pmc Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy
    Omar Akil
    Department of Otolaryngology, Head and Neck Surgery, University of California San Francisco, San Francisco, CA 94143, USA
    Neuron 75:283-93. 2012
  6. ncbi Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
    Sarah Vreugde
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Nat Genet 30:257-8. 2002
  7. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
  8. ncbi Defective myosin VIIA gene responsible for Usher syndrome type 1B
    D Weil
    Unité de Génétique Moléculaire Humaine URA CNRS 1968, Institut Pasteur, Paris, France
    Nature 374:60-1. 1995
  9. pmc Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
    Philine Wangemann
    Anatomy and Physiology Department, Kansas State University, Manhattan, Kansas, USA
    BMC Med 2:30. 2004
  10. pmc Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome
    Helmuth A Sánchez
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Gen Physiol 136:47-62. 2010

Detail Information

Publications323 found, 100 shown here

  1. ncbi How the genetics of deafness illuminates auditory physiology
    Guy P Richardson
    School of Life Sciences, University of Sussex, Brighton, United Kingdom
    Annu Rev Physiol 73:311-34. 2011
    ..We show how mouse models for nonsyndromic forms of deafness involving genes encoding Triobp and stereocilin reveal, respectively, the way stereocilia rootlets contribute to ..
  2. ncbi Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
    Sedigheh Delmaghani
    Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
    Hum Mol Genet 21:3835-44. 2012
    We report a consanguineous Iranian family affected by congenital profound sensorineural deafness segregating in an autosomal recessive mode. Auditory tests implicated at least a cochlear defect in these patients...
  3. pmc Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness
    Nuno Raimundo
    Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA
    Cell 148:716-26. 2012
    ..The A1555G mtDNA mutation that causes maternally inherited deafness disrupts mitochondrial ribosome function, in part, via increased methylation of the mitochondrial 12S rRNA by the ..
  4. ncbi Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
    S I Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Clin Genet 72:546-50. 2007
    Non-syndromic deafness is genetically heterogeneous...
  5. pmc Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy
    Omar Akil
    Department of Otolaryngology, Head and Neck Surgery, University of California San Francisco, San Francisco, CA 94143, USA
    Neuron 75:283-93. 2012
    ..These findings represent a successful restoration of hearing by gene replacement in mice, which is a significant advance toward gene therapy of human deafness.
  6. ncbi Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
    Sarah Vreugde
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Nat Genet 30:257-8. 2002
    Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness...
  7. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
    ..Together, the data suggest that clinical dementia in Danish patients occurs via a loss of function mechanism and not as a result of amyloidosis and tauopathy...
  8. ncbi Defective myosin VIIA gene responsible for Usher syndrome type 1B
    D Weil
    Unité de Génétique Moléculaire Humaine URA CNRS 1968, Institut Pasteur, Paris, France
    Nature 374:60-1. 1995
    ..USH1B maps to 11q13.5 (ref. 10) and accounts for about 75% of USH1 patients. The mouse deafness shaker-1 (sh1) mutation has been localized to the homologous murine region...
  9. pmc Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
    Philine Wangemann
    Anatomy and Physiology Department, Kansas State University, Manhattan, Kansas, USA
    BMC Med 2:30. 2004
    Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin...
  10. pmc Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome
    Helmuth A Sánchez
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Gen Physiol 136:47-62. 2010
    Mutations in GJB2, which encodes Cx26, are one of the most common causes of inherited deafness in humans...
  11. pmc Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
    Hui Zhao
    Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Am J Hum Genet 74:139-52. 2004
    ..characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive ..
  12. ncbi Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling
    Katherine Shim
    Department of Anatomy and Program in Developmental Biology, School of Medicine, University of California, San Francisco, California 94143, USA
    Dev Cell 8:553-64. 2005
    ..Our results provide evidence that antagonism of FGF signaling by SPRY2 is essential for establishing the cytoarchitecture of the organ of Corti and for hearing...
  13. pmc Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities
    Xi Lin
    Department of Otolaryngology, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322 3030, USA
    Hear Res 288:67-76. 2012
    ....
  14. pmc Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
    Sarah De Keulenaer
    NXTGNT, Ghent University, Ghent, Belgium
    BMC Med Genomics 5:17. 2012
    ..While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60). Next generation sequencing technology (NGS) has the potential to be much more cost efficient...
  15. ncbi MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness
    Lilach M Friedman
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Mamm Genome 20:581-603. 2009
    ..mechanisms, in particular, DNA methylation and histone modifications, have also been implicated in human deafness, suggesting that several layers of noncoding genes that have never been studied systematically in the inner-ear ..
  16. 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
    Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22...
  17. pmc Challenges in whole exome sequencing: an example from hereditary deafness
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e32000. 2012
    ..This study highlights some of the challenges in the analyses of whole exome data in the bid to establish the true causative variant in Mendelian disease...
  18. pmc Language development in profoundly deaf children with cochlear implants
    M A Svirsky
    Indiana University School of Medicine, Department of Otolaryngology Head and Neck Surgery, 702 Barnhill Dr, RR 044, Indianapolis, IN 46202 5200, USA
    Psychol Sci 11:153-8. 2000
    ..Despite a large amount of individual variability, the best performers in the implanted group seem to be developing an oral linguistic system based largely on auditory input obtained from a cochlear implant...
  19. ncbi Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
    Kiyoto Kurima
    Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Nat Genet 30:277-84. 2002
    Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function...
  20. 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
    ..type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12...
  21. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
    ..Although TPRN is expressed in many tissues, immunolocalization of the protein product in the mouse cochlea shows prominent expression in the taper region of hair cell stereocilia. Consequently, we named the protein taperin...
  22. pmc A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach
    Wenxue Tang
    Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Test Mol Biomarkers 16:536-42. 2012
    ..We validated a cDNA-probe-based approach for capturing exons of a group of genes known to cause deafness. Polymerase chain reaction amplicons were made from cDNA clones of the targeted genes and used as bait probes in ..
  23. ncbi McGurk effects in cochlear-implanted deaf subjects
    Julien Rouger
    Centre de Recherche Cerveau et Cognition, UMR CNRS 5549, Faculte de Medecine de Rangueil, Toulouse Cedex 9, France
    Brain Res 1188:87-99. 2008
    ..Altogether, our results suggest a cross-modal reorganization of speech comprehension in cochlear-implanted patients that might recruit more strongly than in NH the visual and visuo-auditory brain areas involved in speechreading...
  24. ncbi A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
    Angeles Mencia
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain
    Hum Genet 123:41-53. 2008
    ..This is the first study to identify a trafficking-dependent dominant mechanism for the loss of KCNQ4 channel function in DFNA2...
  25. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
    Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia...
  26. ncbi Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
    N Hilgert
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Clin Genet 74:223-32. 2008
    ..implies the presence of mutations outside the coding region of this gene or alternatively at least one additional deafness-causing gene in this region...
  27. ncbi Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    D P Kelsell
    Academic Department of Dermatology, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Nature 387:80-3. 1997
    Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children...
  28. pmc High-throughput sequencing to decipher the genetic heterogeneity of deafness
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 13:245. 2012
    ..We describe the impact that high-throughput sequencing approaches are having in discovery of genes related to hearing loss and the implications for clinical diagnosis...
  29. ncbi Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation
    Kaitian Chen
    Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat Sen University and Institute of Otorhinolaryngology, Sun Yat Sen University, Guangzhou, PR China
    Otolaryngol Head Neck Surg 146:972-8. 2012
    ..The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation...
  30. pmc Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness
    Tatjana Kharkovets
    Zentrum für Molekulare Neurobiologie, ZMNH, Universitat Hamburg, Hamburg, Germany
    EMBO J 25:642-52. 2006
    ..These cells were only slightly depolarized and showed near-normal presynaptic function. We conclude that the hearing loss in DFNA2 is predominantly caused by a slow degeneration of OHCs resulting from chronic depolarization...
  31. ncbi Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels
    J Platzer
    Institut fur Biochemische Pharmakologie, Innsbruck, Austria
    Cell 102:89-97. 2000
    ..We conclude that alpha1D can form LTCCs with negative activation thresholds essential for normal auditory function and control of cardiac pacemaker activity...
  32. ncbi Visual stimuli can impair auditory processing in cochlear implant users
    Francois Champoux
    Centre de Recherche en Neuropsychologie et Cognition, Universite de Montreal, Montreal, Quebec, Canada
    Neuropsychologia 47:17-22. 2009
    ..These findings raise several questions with regards to the rehabilitation of cochlear implant users...
  33. pmc Increased AβPP processing in familial Danish dementia patients
    Shuji Matsuda
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    J Alzheimers Dis 27:385-91. 2011
    ....
  34. 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
    ....
  35. ncbi Cross-modal plasticity in deaf subjects dependent on the extent of hearing loss
    Nicole Lambertz
    Department of Diagnostic and Interventional Radiology, Neuroradiology, University of Duisburg Essen, Hufelandstr 55, D 45127 Essen, Germany
    Brain Res Cogn Brain Res 25:884-90. 2005
    ..In conclusion our results indicate a cortical reorganization of the auditory cortex comprising primary auditory fields only present in subjects with total hearing loss...
  36. pmc Visual context processing deficits in schizophrenia: effects of deafness and disorganization
    Heather K Horton
    School of Social Welfare, University at Albany, 135 Western Avenue, Albany, NY 12203, USA
    Schizophr Bull 37:716-26. 2011
    ..b>Deafness, and especially the use of sign language, leads to heightened sensitivity to peripheral visual cues and increased ..
  37. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
    Am J Hum Genet 69:25-34. 2001
    ..of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction...
  38. ncbi Hereditary deafness and phenotyping in humans
    Maria Bitner-Glindzicz
    Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK
    Br Med Bull 63:73-94. 2002
    Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness...
  39. pmc Structural determinants of cadherin-23 function in hearing and deafness
    Marcos Sotomayor
    Howard Hughes Medical Institute, Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Neuron 66:85-100. 2010
    ..transduction channels, is composed of two proteins, protocadherin-15 and cadherin-23, whose mutation causes deafness. However, their molecular structure, elasticity, and deafness-related structural defects are unknown...
  40. ncbi Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    Philomena Mburu
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Nat Genet 34:421-8. 2003
    ..The gene encoding whirlin also underlies the human autosomal recessive deafness locus DFNB31. In the mouse cochlea, whirlin is expressed in the sensory IHC and OHC stereocilia...
  41. pmc Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
    Min Xin Guan
    Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Am J Hum Genet 79:291-302. 2006
    ..12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide...
  42. pmc Mitochondrial deafness alleles confer misreading of the genetic code
    Sven N Hobbie
    Institut fur Medizinische Mikrobiologie, Universitat Zurich, Gloriastrasse 32, CH 8006 Zurich, Switzerland
    Proc Natl Acad Sci U S A 105:3244-9. 2008
    ..This finding suggests misreading of the genetic code as an important molecular mechanism in disease pathogenesis...
  43. ncbi The influence of a sensitive period on central auditory development in children with unilateral and bilateral cochlear implants
    Anu Sharma
    Behavioral and Brain Sciences, University of Texas at Dallas, Dallas, TX, USA
    Hear Res 203:134-43. 2005
    ..Our results are consistent with animal models of central auditory development after implantation and confirm the presence of a relatively brief sensitive period for central auditory development in young children...
  44. pmc Mutations of MYO6 are associated with recessive deafness, DFNB37
    Zubair M Ahmed
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 72:1315-22. 2003
    Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37...
  45. pmc Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
    H J Park
    Section on Gene Structure and Function, National Institutes of Health, Rockville, Maryland 20850, USA
    J Med Genet 40:242-8. 2003
    Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations...
  46. ncbi Cross-modal plasticity and speech perception in pre- and postlingually deaf cochlear implant users
    KRISTI A BUCKLEY
    Department of Communicative Disorders and Sciences, University at Buffalo, Buffalo, New York, USA
    Ear Hear 32:2-15. 2011
    ..This study examines the association between visual/auditory cross-modal plasticity and speech perception with a cochlear implant in individuals with pre- and postlingual onset of severe to profound hearing loss...
  47. ncbi Bilateral reorganization of posterior temporal cortices in post-lingual deafness and its relation to cochlear implant outcome
    Diane S Lazard
    Ecole Normale Superieure, INSERM U960 and Université Paris 6, Paris F 75005, France
    Hum Brain Mapp 34:1208-19. 2013
    Post-lingual deafness induces a decline in the ability to process phonological sounds or evoke phonological representations...
  48. ncbi Phonological processing in post-lingual deafness and cochlear implant outcome
    D S Lazard
    Ecole Normale Superieure, Departement d Etudes Cognitives, INSERM U960, Paris, F 75005, France
    Neuroimage 49:3443-51. 2010
    ..These functional patterns reveal that deafness either enhances "normal" phonological processing, or prompts a substitution of phonological processing by lexico-..
  49. pmc Engineered deafness reveals that mouse courtship vocalizations do not require auditory experience
    Elena J Mahrt
    School of Biological Sciences, Washington State University, Vancouver, Washington 98686, USA
    J Neurosci 33:5573-83. 2013
    ..We conclude that mouse courtship vocalizations are not acquired through auditory feedback-dependent learning...
  50. pmc Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness
    Justin Cotney
    Department of Pathology, Yale University School of Medicine, 310 Cedar Street, PO Box 208023, New Haven, CT 06520 8023, USA
    Hum Mol Genet 18:2670-82. 2009
    ..A1555G mtDNA mutation, implicating a deleterious rRNA methylation-dependent retrograde signal in maternally inherited deafness pathology and shedding significant insight into how h-mtTFB1 acts as a nuclear modifier of this disease.
  51. pmc Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
    Xiaoming Li
    Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Nucleic Acids Res 32:867-77. 2004
    We report here the biochemical characterization of the deafness-associated mitochondrial tRNA(Ser(UCN)) T7511C mutation, in conjunction with homoplasmic ND1 T3308C and tRNA(Ala) T5655C mutations using cybrids constructed by transferring ..
  52. pmc A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse
    Yoko Nakano
    Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
    PLoS Genet 8:e1002966. 2012
    ..of an alternative-splicing regulator whose inactivation is responsible for defective hair-cell development, deafness, and impaired balance in the spontaneous mutant Bronx waltzer (bv) mouse...
  53. pmc Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues
    Satoko Abe
    Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    Am J Hum Genet 72:73-82. 2003
    ..In a subsequent search for mutations of CRYM, among 192 patients with nonsyndromic deafness, we identified two mutations at the C-terminus; one was a de novo change (X315Y) in a patient with unaffected ..
  54. ncbi Visual stimuli activate auditory cortex in the deaf
    E M Finney
    Psychology Department-0109, University of California, San Diego, La Jolla, California 92093, USA
    Nat Neurosci 4:1171-3. 2001
    ..in a region of the right auditory cortex, corresponding to Brodmann's areas 42 and 22, as well as in area 41 (primary auditory cortex), demonstrating that early deafness results in the processing of visual stimuli in auditory cortex.
  55. ncbi Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis
    Tomohito Higashi
    Division of Cell Biology, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, 650 0017, Japan
    J Cell Sci 126:966-77. 2013
    ..We further analyzed human ILDR1, mutations in which cause a familial deafness, DFNB42, and found that most DFNB42-associated ILDR1 mutant proteins were defective in recruitment of tricellulin...
  56. pmc A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population
    Borum Sagong
    Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea
    PLoS ONE 8:e57237. 2013
    ....
  57. ncbi Delayed neurotrophin treatment following deafness rescues spiral ganglion cells from death and promotes regrowth of auditory nerve peripheral processes: effects of brain-derived neurotrophic factor and fibroblast growth factor
    Josef M Miller
    Kresge Hearing Research Institute, University of Michigan, Ann Arbor, Michigan 48109 0506, USA
    J Neurosci Res 85:1959-69. 2007
    ..Neurotrophic factor treatment therefore has the potential to improve the benefits of cochlear implants by maintaining a larger excitable population of neurons and inducing neural regrowth...
  58. pmc Speech-like cerebral activity in profoundly deaf people processing signed languages: implications for the neural basis of human language
    L A Petitto
    Department of Psychology, McGill University, Montreal, QC, H3A 1B1 Canada
    Proc Natl Acad Sci U S A 97:13961-6. 2000
    ....
  59. 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
    ..Here we demonstrate that two cadherins that are linked to inherited forms of deafness in humans interact to form tip links...
  60. pmc Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin
    Hyoung Mi Kim
    Anatomy and Physiology Department, Kansas State University, Manhattan, Kansas, United States of America
    PLoS ONE 6:e17949. 2011
    Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of deafness. Deafness and vestibular dysfunction in the corresponding mouse model, Slc26a4(-/-), are associated with an enlargement and acidification of the ..
  61. pmc Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome
    Changlin Tian
    Department of Biochemistry, Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 8725, USA
    Biochemistry 46:11459-72. 2007
    ..Mutations in human KCNE1 cause congenital deafness and congenital long QT syndrome, an inherited predisposition to potentially life-threatening cardiac arrhythmias...
  62. ncbi The age at which young deaf children receive cochlear implants and their vocabulary and speech-production growth: is there an added value for early implantation?
    Carol McDonald Connor
    Florida State University and the Florida Center for Reading Research, Tallahassee, FL 32301, USA
    Ear Hear 27:628-44. 2006
    ..In this study, we investigate whether there is an added value to earlier implantation or whether advantages observed in child outcomes are primarily attributable to longer device use at any given age...
  63. pmc BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice
    Giulia Crispino
    Fondazione per la Ricerca Biomedica Avanzata, Istituto Veneto di Medicina Molecolare, Padova, Italy
    PLoS ONE 6:e23279. 2011
    The deafness locus DFNB1 contains GJB2, the gene encoding connexin26 and GJB6, encoding connexin30, which appear to be coordinately regulated in the inner ear...
  64. pmc Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin
    Benjamin Delprat
    INSERM U 583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80, rue Augustin Fliche, 34295 Montpellier cedex 05, France
    Mol Cell Biol 25:847-53. 2005
    ..Occurrence of human deafness in fibrocyte alterations underlines their critical roles in auditory function...
  65. ncbi Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
    Shahid M Baig
    Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan
    Nat Neurosci 14:77-84. 2011
    b>Deafness is genetically very heterogeneous and forms part of several syndromes...
  66. pmc Epilogue: factors contributing to long-term outcomes of cochlear implantation in early childhood
    Ann E Geers
    Dallas Cochlear Implant Program, Callier Advanced Hearing Research Center, The University of Texas at Dallas, Dallas, Texas 75235, USA
    Ear Hear 32:84S-92S. 2011
    ....
  67. ncbi Feeling vibrations: enhanced tactile sensitivity in congenitally deaf humans
    S Levänen
    Brain Research Unit, Low Temperature Laboratory, Helsinki University of Technology, P O BOX 2200, FIN 02015 HUT, Espoo, Finland
    Neurosci Lett 301:75-7. 2001
    ..We found that congenital deafness can enhance the accuracy of suprathreshold tactile change detection while tactile frequency discrimination is not ..
  68. pmc Mice do not require auditory input for the normal development of their ultrasonic vocalizations
    Kurt Hammerschmidt
    Cognitive Ethology Lab, German Primate Center, Gottingen, Germany
    BMC Neurosci 13:40. 2012
    ..of auditory input on call development, we compared the occurrence and structure of ultrasonic vocalizations from deaf otoferlin-knockout mice, a model for human deafness DFNB9, to those of hearing wild-type and heterozygous littermates.
  69. ncbi Visual stimuli activate auditory cortex in deaf subjects: evidence from MEG
    Eva M Finney
    Department of Psychology, University of California San Diego, La Jolla, CA 92093, USA
    Neuroreport 14:1425-7. 2003
    ..These results add to the mounting evidence that removal of one sensory modality in humans leads to neural reorganization of the remaining modalities...
  70. ncbi Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit
    Nora Rozengurt
    Department of Pathology, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Hear Res 177:71-80. 2003
    ..Because diverse human hereditary deafness syndromes are associated with mutations in K(+) channels, we examined auditory function and inner ear structure ..
  71. ncbi The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
    K B Avraham
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
    Nat Genet 11:369-75. 1995
    The mouse represents an excellent model system for the study of genetic deafness in humans. Many mouse deafness mutants have been identified and the anatomy of the mouse and human ear is similar...
  72. ncbi Sensory rehabilitation in the plastic brain
    Olivier Collignon
    Centre de Recherche en Neuropsychologie et Cognition, CERNEC, Universite de Montreal, Montreal, Quebec, Canada
    Prog Brain Res 191:211-31. 2011
    ..Here, deafness and blindness are taken as two illustrative models...
  73. pmc Deafness in the genomics era
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hear Res 282:1-9. 2011
    Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene...
  74. ncbi Children creating core properties of language: evidence from an emerging sign language in Nicaragua
    Ann Senghas
    Department of Psychology, Barnard College of Columbia University, 3009 Broadway, New York, NY 10027, USA
    Science 305:1779-82. 2004
    ..Thus, children naturally possess learning abilities capable of giving language its fundamental structure...
  75. pmc Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
    S D Smith
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA
    J Med Genet 37:446-8. 2000
    Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion...
  76. ncbi Electrophysiological and speech perception measures of auditory processing in experienced adult cochlear implant users
    Andrea S Kelly
    Discipline of Audiology, The University of Auckland, Private Bag 92 019, Auckland, New Zealand
    Clin Neurophysiol 116:1235-46. 2005
    ....
  77. ncbi Cell division and maintenance of epithelial integrity in the deafened auditory epithelium
    Young Ho Kim
    Department of Otolaryngology, Kresge Hearing Research Institute, Ann Arbor, Michigan 48109, USA
    Cell Cycle 6:612-9. 2007
    ..Presence of mitosis in the tissue presents therapeutic opportunities for gene transfer and stem cells therapies...
  78. pmc Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
    Peter Green
    Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK
    Am J Hum Genet 86:485-9. 2010
    ..The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of ..
  79. ncbi Hearing after congenital deafness: central auditory plasticity and sensory deprivation
    A Kral
    Physiologisches Institut II, Theodor Stern Kai 7, D 60590 Frankfurt am Main, Germany
    Cereb Cortex 12:797-807. 2002
    ..Since these animals have no auditory experience, they were used as a model for congenital deafness. Kittens were equipped with a cochlear implant at different ages and electro-stimulated over a period of 2.0-5...
  80. ncbi Deafness-related plasticity in the inferior colliculus: gene expression profiling following removal of peripheral activity
    Avril Genene Holt
    Kresge Hearing Research Institute, Department of Otolaryngology Head Neck Surgery, University of Michigan, Ann Arbor, Michigan, USA
    J Neurochem 93:1069-86. 2005
    ..These genes encoded proteins previously reported to change as a consequence of deafness, such as calbindin, as well as proteins not previously reported to be modulated by deafness, such as clathrin...
  81. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  82. ncbi Ageing and hearing loss
    X Z Liu
    Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
    J Pathol 211:188-97. 2007
    ..The effects of age-related deafness can have significant physical, functional and mental health consequences...
  83. ncbi Mouse models for human hereditary deafness
    Michel Leibovici
    Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
    Curr Top Dev Biol 84:385-429. 2008
    ..Identification of the causative genes for the early onset forms of isolated deafness began 15 years ago and has been very fruitful. To date, approximately 50 causative genes have been identified...
  84. ncbi Deafness and stria vascularis defects in S1P2 receptor-null mice
    Mari Kono
    Genetics of Development and Disease Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892 1821, USA
    J Biol Chem 282:10690-6. 2007
    ..Vascular disturbance within the stria vascularis is a potential mechanism that leads to deafness in the S1P(2) receptor-null mice.
  85. ncbi Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    H S Scott
    Division of Medical Genetics, University of Geneva Medical School, Geneve, Switzerland
    Nat Genet 27:59-63. 2001
    Approximately 50% of childhood deafness is caused by mutations in specific genes. Autosomal recessive loci account for approximately 80% of nonsyndromic genetic deafness...
  86. ncbi Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, FL 33136, USA
    Hum Genet 111:26-30. 2002
    ..recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness, retinitis pigmentosa, and vestibular dysfunction. USH1C encodes a PDZ-domain-containing protein, harmonin...
  87. pmc β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    EMBO Mol Med 4:171-9. 2012
    ..Our data and the failures of anti-Aβ therapies in humans advise against targeting γ-secretase cleavage of APP and/or Aβ...
  88. ncbi Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations
    C J Kros
    School of Biological Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK
    Nat Neurosci 5:41-7. 2002
    Mutations in Myo7a cause hereditary deafness in mice and humans. We describe the effects of two mutations, Myo7a(6J) and Myo7a(4626SB), on mechano-electrical transduction in cochlear hair cells...
  89. ncbi Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
    X Z Liu
    Nat Genet 17:268-9. 1997
  90. pmc Vibrotactile activation of the auditory cortices in deaf versus hearing adults
    Edward T Auer
    Department of Speech Language Hearing, University of Kansas, Dole Human Development Center, 10000 Sunnyside Ave, Room 3001, Lawrence, KS 66045 7555, USA
    Neuroreport 18:645-8. 2007
    ..Adults with early-onset deafness and long-term hearing aid experience were hypothesized to have undergone auditory cortex plasticity due to ..
  91. ncbi Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
    X Z Liu
    MRC Mouse Genome Centre, Harwell, Oxfordshire, UK
    Nat Genet 16:188-90. 1997
    Genetic hearing impairment affects around 1 in every 2,000 births. The bulk (approximately 70%) of genetic deafness is non-syndromic, in which hearing impairment is not associated with any other abnormalities...
  92. ncbi Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
    Sung Hee Han
    Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7 14, Dongbingo dong, Yongsan gu, Seoul, South Korea
    J Hum Genet 53:1022-8. 2008
    ..The purpose of this study is to evaluate the prevalence of GJB2 mutations causing inherited deafness in the general Korean population. Blood samples were obtained from 2,072 newborns with normal hearing...
  93. pmc Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis
    Ronna Hertzano
    Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland, Baltimore, Maryland, United States of America
    PLoS Genet 7:e1002309. 2011
    ..pathway with auditory and vestibular defects in the Twirler mutant mice uncovers a novel mechanism underlying deafness and balance disorders...
  94. ncbi Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
    S Wayne
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Hum Mol Genet 10:195-200. 2001
    ..In two unrelated families from Belgium and the USA segregating for deafness at this locus, we found different mutations in EYA4, both of which create premature stop codons...
  95. ncbi Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells
    Tina Pangrsic
    InnerEarLab, Department of Otolaryngology and Center for Molecular Physiology of the Brain, University Medical Center Gottingen, Gottingen, Germany
    Nat Neurosci 13:869-76. 2010
    ..vesicle protein otoferlin impaired hearing by reducing vesicle replenishment in the pachanga mouse model of human deafness DFNB9...
  96. ncbi Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
    Ronna Hertzano
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Hum Mol Genet 13:2143-53. 2004
    ..To examine the role of Gfi1 in the pathogenesis of Pou4f3-related deafness, we performed comparative analyses of the embryonic inner ears of Pou4f3 and Gfi1 mouse mutants using ..
  97. pmc Function and expression pattern of nonsyndromic deafness genes
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp UA, Belgium
    Curr Mol Med 9:546-64. 2009
    ..This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.
  98. ncbi Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell
    Paulina Heidrych
    University of Tubingen, Institute of Human Genetics, Wilhelmstr 27, 72074 Tubingen, Germany
    Hum Mol Genet 18:2779-90. 2009
    ....
  99. ncbi Early intervention and language development in children who are deaf and hard of hearing
    M P Moeller
    Center for Childhood Deafness, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Pediatrics 106:E43. 2000
    ..The primary purpose of this study was to examine the relationship between age of enrollment in intervention and language outcomes at 5 years of age in a group of deaf and hard-of-hearing children...
  100. pmc Cross-modal interactions of auditory and somatic inputs in the brainstem and midbrain and their imbalance in tinnitus and deafness
    S Dehmel
    Kresge Hearing Research Institute, 1150 West Medical Center Drive, Room 5434A, Ann Arbor, MI 48109 5616, USA
    Am J Audiol 17:S193-209. 2008
    ..It then explores how interactions between the auditory and somatosensory system are modified through deafness, and their impact on tinnitus is discussed.
  101. ncbi SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 14:773-9. 2006
    ..It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in ..

Research Grants71

  1. ID OF THE MOUSE DEAFNESS (DN) GENE ON CHROMOSOME 19
    Bronya Keats; Fiscal Year: 2002
    ..Adapted from investigator's abstract) The overall goal is to identify the gene (dn) that is defective in the deafness (dn/dn) mouse...
  2. Contribution of c-Jun N-terminal kinase activity to vestibular schwannoma growth
    Marlan R Hansen; Fiscal Year: 2013
    ..They cause significant morbidity including deafness, tinnitus, facial paralysis, imbalance, and brainstem compression...
  3. KCNQ Channels and Vasoconstrictor Signal Transduction
    Kenneth L Byron; Fiscal Year: 2013
    ..KCNQ K+ channels have been implicated in human diseases ranging from cardiac arrhythmias to congenital deafness and epilepsy...
  4. IDENTIFICATION OF ACOUSTICO-LATERALIS TRANSMITTERS
    Dennis G Drescher; Fiscal Year: 2013
    ..of biochemical/pharmacologic manipulation of afferent signaling in auditory/vestibular deficits such as deafness, tinnitus, and dizziness is completely dependent upon our knowledge of basic elements of hair-cell receptoneural ..
  5. Characterization of an essential mitochondrial rRNA methyltransferase
    Kip E Guja; Fiscal Year: 2013
    ..inherited, and methylation activity by TFB1M modulates the effects of a pathogenic mtDNA mutation linked to deafness. Other TFB1M polymorphisms are associated with reduced insulin secretion and increased risk of type II diabetes ..
  6. Understanding thyroid hormone regulation of neurogenesis in the cochlea
    Mirna Mustapha; Fiscal Year: 2013
    ..This grant application builds on our observations that congenital secondary hypothyroidism causes profound deafness in Pit1dw mice and thyroid supplementation during pregnancy and early neonatal life is sufficient to protect ..
  7. FASEB SRC on Mitochondrial Assembly &Dynamics in Health, Disease &Aging
    Antoni Barrientos; Fiscal Year: 2011
    ..this can lead to a myriad of clinical phenotypes ranging from ataxia, seizures, blindness, myoclonus, dystonia, deafness, and diabetes...
  8. Human cytomegalovirus entry into epithelial and endothelial cells
    David C Johnson; Fiscal Year: 2013
    ..In immunologically naive children, HCMV can cause developmental defects of the CNS, especially deafness. Moreover, clinically recognized cases of HCMV in young children may represent only the "tip of the iceberg", ..
  9. Functional characterization of the Bronx waltzer deafness gene
    Botond Banfi; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The characterization of mutant mice with deafness has led to important discoveries in hearing research, yet the deafness-causing gene defects in a few publicly available mouse strains remain ..
  10. Nuclear Control of Mitochondrial Gene Expression
    Gerald Shadel; Fiscal Year: 2013
    ..human disease pathology, ranging from heart, skeletal muscle and nerve dysfunction to diabetes, blindness, and deafness. Of course, a major function of mitochondria is to generate ATP through the process of oxidative phosphorylation (..
  11. Basic Mechanisms in Hearing Loss of Cochlear Origin
    Allen F Ryan; Fiscal Year: 2013
    ..evaluated;two novel intracellular pathways of HC protection have been defined;three gene mutations that lead to deafness have been identified;a critical period of HC development in which transplantation is possible has been determined;..
  12. Cloning &Functional Studies of Deafness Mutations
    Kenneth R Johnson; Fiscal Year: 2013
    ..We identified five new hearing-related genes by the positional cloning of spontaneous, deafness-causing mutations named hurry-scurry (hscy), jitterbug (jbg), roundabout (rda), hyperspin (hspn), and deaf ..
  13. STRUCTURE OF THE VACUOLAR ATPase
    Stephan Wilkens; Fiscal Year: 2013
    ..vacuolar ATPase have been associated with a number of diseases such as renal tubular acidosis, sensorineural deafness, osteoporosis, diabetes and cancer...
  14. Genomic approaches to inner ear hair cell regeneration
    Michael Lovett; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Damage to inner ear hair cells is a leading cause of human deafness and balance disorders and affects >10% of the world's population. Mammals cannot regenerate their hair cells...
  15. The Effect Of Deafness Associated Mutations on MyosinVIIA Function
    Eva Forgacs; Fiscal Year: 2010
    ..are associated with a variety of sensory neuronal disorders including the Usher syndrome 1B, characterized by deafness, vestibular dysfunction and blindness (retinitis pigmentosa), and two autosomal recessive hearing disorders, ..
  16. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2012
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS patients and organ ..
  17. Regulation and Function of the HCMV pp71 Tegument Protein
    Julie Kerry; Fiscal Year: 2009
    ..can cross the placenta and infect the fetus resulting in a high incidence of birth defects such as blindness and deafness. The recent increase in drug-resistant HCMV has demonstrated the need for a more complete understanding of the ..
  18. USHERIN: STRUCTURAL AND FUNCTIONAL ANALYSIS
    DOMINIC E COSGROVE; Fiscal Year: 2012
    ..the cuticular plate, abnormal numbers of actin paracrystals, and variable lengths and shapes, all associated with deafness. None of the usher mouse models develop retinal degeneration, which has hampered progress in understanding RP ..
  19. A cell-specific inducible model of hearing loss
    Albert S Edge; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Deafness models have been made by a variety of approaches but problems with models in the mouse have hampered their use for studies of auditory physiology...
  20. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2011
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS patients and organ ..
  21. Prophage-associated virulence factors in pathogenic Neisseria species
    ANNA KARLS; Fiscal Year: 2009
    ..Despite the use of chemotherapeutics, 10-40% of invasive meningococcal infections are fatal and 10-15% of survivors have serious sequelae, including mental retardation and deafness.
  22. Myosin 15:Genetics, Pathology and Therapeutic Potential
    Sally A Camper; Fiscal Year: 2013
    ..on our discovery that mutations in the unconventional myosin gene, Myo15, are responsible for profound congenital deafness and vestibular dysfunction in two spontaneous mouse mutants: shaker 2 and shaker 2J, and in humans with DFNB3...
  23. NHERF-1 and dopamine-mediated regulation of renal phosphate transport.
    Edward J Weinman; Fiscal Year: 2013
    ..of NHERF-1 in other physiologic and pathophysiologic processes such as nephrolithiasis, schizophrenia, psoriasis, aggressive forms of estrogen receptor positive breast cancer, and nerve deafness (Usher's syndrome). .
  24. Auditory Neuroprotection by Small Molecule Agonists of the TrkB Receptor
    Keqiang Ye; Fiscal Year: 2013
    ..The data were acquired from a mouse model of human deafness caused by connexin26 (Cx26) mutations, which is the most common cause of prelingual non-syndromic deafness in ..
  25. INTRACOCHLEAR ELECTROCHEMICAL GRADIENTS
    Alexander A Spector; Fiscal Year: 2012
    ..The studies are directly applicable to understanding why deafness follows the loss of outer hair cells;our results will explain how inner ear vibrations are enhanced at high ..
  26. Centrosomin and Centrosomes in Cell Division
    Timothy L Megraw; Fiscal Year: 2012
    ..These ailments include polycystic kidney disease, deafness, hydrocephaly, obesity, microcephaly, and more...
  27. Regeneration of stereocilia of cochlear hair cells
    David Z Z He; Fiscal Year: 2010
    ..hair cells are essential to the biological remediation and prevention of hair cell-related hearing loss and deafness. PUBLIC HEALTH RELEVANCE: Because the majority of Americans with hearing loss, some 30 million in all, have some ..
  28. Mechanics of Inner Ear Hair Bundles
    KIRIAKI DOMENICA KARAVITAKI; Fiscal Year: 2012
    ..Mutation of similar links is known to cause inherited deafness in mice and humans, and this sort of sliding adhesion represents a new type of mechanism in cell biology.
  29. Novel Approaches for Prevention and Treatment of Noise Induced Hearing loss
    Debashree Mukherjea; Fiscal Year: 2013
    ..A recent report by the National Institute of Deafness and Communicative Disorder indicated that 30 million Americans are exposed to hazardous levels of noise regularly...
  30. Genetic hearing screening for newborns
    Xi Lin; Fiscal Year: 2009
    ..Currently 46 deafness genes are identified with a combined total mRNA length of about 203k base pairs...
  31. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2013
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS patients and organ ..
  32. Bilateral cochlear implants: Physiology and psychophysics
    Bertrand Delgutte; Fiscal Year: 2012
    ..The specific aims are to (1) compare neural ITD sensitivity in animals differing in age of onset of deafness and duration of deafness in order to test whether deprivation of binaural experience has an effect on ITD ..
  33. MOLECULAR BASIS OF INHERITED DEAFNESS
    David P Corey; Fiscal Year: 2013
    DESCRIPTION (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 ..
  34. Analysis of Hair Cell Regeneration in Zebrafish
    ALEJANDRO SANCHEZ ALVARADO; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): A prominent cause of deafness is loss of hair cells due to age, noise or antibiotic treatments...
  35. Mechanisms of Sensory Regeneration
    Mark Warchol; Fiscal Year: 2013
    ..humans) are unable to replace these cells, and the death of hair cells is the most common cause of sensorineural deafness. In contrast, the ears of nonmammalian vertebrates can quickly regenerate hair cells after injury, and it is of ..
  36. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2010
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS patients and organ ..
  37. Internalization of gap junctions as a regulatory mechanism of direct GJIC
    Matthias M Falk; Fiscal Year: 2013
    ..3, Cx31, Cx32, Cx43, Cx46, and Cx50) are implicated in a number of diseases including neuropathies, deafness, cataracts, skin disorders, and cranio-facial developmental defects, demonstrating the fundamental need of gap ..
  38. Stimuli promoting the survival of spiral ganglion neurons
    Steven H Green; Fiscal Year: 2011
    ..SGN degeneration reduces the efficacy of cochlear implants, currently the only treatment for sensorineural deafness. Electrical stimulation promotes survival of deafferented SGNs in vivo, raising the possibility of using ..
  39. Novel small-molecule inhibitors of Wee1 kinase for medulloblastoma treatment
    Philip Reigan; Fiscal Year: 2013
    ..confer clinical efficacy, and unfortunately this often results in lasting neurocognitive defects, stunted growth, deafness, and even secondary tumors...
  40. Identification of Mechanically Sensitive Proteins in Early Development
    Douglas W DeSimone; Fiscal Year: 2013
    ..pathologies that include hypertension and atherosclerosis, tumorigenesis and metastasis, bone degeneration, and deafness. Despite the importance of mechanotransduction to development, normal physiology and disease, the molecular ..
  41. Genetic Dissection of Auditory Circuit Assembly
    Lisa V Goodrich; Fiscal Year: 2013
    ..to injury, tumors, or hair cell degeneration, which are all common causes of human congenital and age-related deafness. The most effective treatment for deafness is the cochlear implant, which works by directly stimulating spiral ..
  42. Auditory Cortex Plasticity and Tinnitus
    Brian Allman; Fiscal Year: 2012
    ..e., intramodal cortical plasticity), and in the case of profound deafness caused by ototoxicity, neurons in the auditory cortex becoming responsive to somatosensory stimulation (i.e...
  43. The Role of Ets1 in Melanocyte Development
    Lidia Kos; Fiscal Year: 2012
    ..and the abnormal development of these cells can result in several congenital conditions including sensorineural deafness, cranio-facial abnormalities, cardiac malformations, impaired thyroid and tongue, and pigmentation disorders...
  44. Deciphering the Usher I protein interactome using a genetic approach
    Qing Y Zheng; Fiscal Year: 2013
    ..The Usher Syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by congenital deafness and retinitis pigmentosa. It is the most common cause of deafness accompanied by blindness...
  45. Detection and Quantification of Neonatal Intraventricular Hemorrhage
    Michael D Weiss; Fiscal Year: 2013
    ..palsy, seizures, posthemorrhagic hydrocephalus (which may require a ventriculoperitoneal shunt), blindness, deafness, and cognitive impairment (Hintz and O'Shea 2008, Goldenberg and Jobe 2001)...
  46. Gene-Expression Patterns During Hair-Cell Regeneration
    ALBERT JAMES HUDSPETH; Fiscal Year: 2010
    ..The specific Challenge Topic is 11-DC-101, Hair Cell Regeneration and Maintenance. Deafness and lesser degrees of hearing impairment have an enormous impact on modern societies...
  47. Ion Channel Function in Auditory &Vestibular Hair Cells
    Jeffrey R Holt; Fiscal Year: 2013
    ..Some of the genes we will investigate are known to cause deafness and/or balance disorders when mutated...
  48. Thiamine Deficiency and Acquired Auditory Neuropathy
    M Charles Liberman; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Auditory neuropathy (AN) is a type of deafness characterized by absence of auditory brainstem responses despite robust otoacoustic emissions, suggesting that outer hair cells are intact while inner ..
  49. Effectiveness of Therapy via Telemedicine following Cochlear Implants
    Anu Sharma; Fiscal Year: 2013
    ..These children have varying degrees of deafness, and are likely to have impaired speech and language...
  50. REGULATION OF COCHLEAR REGENERATION BY CANONICAL WNT SIGNALING
    MATTHEW RYAN BARTON; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The loss of sensory hair cells is a leading cause of deafness in humans...
  51. Morphogenesis of the organ of Corti
    Ping Chen; Fiscal Year: 2013
    ..Defects in the patterning of hair cells and stereocilia are responsible for many forms of deafness. During development, the polarity of stereocilia in a hair cell is preceded by the polarity of a tubulin- based ..
  52. Establishment of epithelial planar cell polarity
    Marek Mlodzik; Fiscal Year: 2013
    ..processes of PCP establishment and Wnt/Fz signaling have been linked to several medical abnormalities, including deafness, cancer (several components of the pathway are proto-oncogenes or tumor suppressors), poly cystic kidney disease, ..
  53. Regeneration and reinnervation of mechanosensory hair cells
    David J Kozlowski; Fiscal Year: 2013
    ..Loss of hair cells in the mammalian inner ear is irreversible and causes hearing impairment, deafness and balance dysfunction...
  54. Molecular roles in active and passive mechanics in cochlear hair bundles
    ANTHONY WEI PENG; Fiscal Year: 2013
    ..Failures in this process lead to hearing loss and deafness. Multiple human genetic mutations exhibit deficits in the MET process...
  55. Viral Immunomodulation and Rational CMV Vaccine Design
    Mark R Schleiss; Fiscal Year: 2013
    ..from the devastating consequences of congenital HCMV infection, including mental retardation, cerebral palsy, and deafness. Recently, a subunit vaccine based on recombinant HCMV glycoprotein B (gB) showed efficacy in a clinical trial...
  56. Regulation of hair cell determination by the Wnt/Calcium signaling pathway
    Alain Dabdoub; Fiscal Year: 2012
    ..PUBLIC HEALTH RELEVANCE: Deafness is one of the most common birth defects in humans and many forms are due to abnormalities in the developmental ..
  57. Molecular Genetics of Inherited Neurological Diseases
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2012
    ..NF2 schwannomas can cause deafness, pain and paralysis, and meningiomas result in brain compression and occlusion of major sinuses, which are life ..
  58. Potassium Homeostasis in the Inner Ear
    Ebenezer N Yamoah; Fiscal Year: 2013
    ..EP are ototoxic and experimental manipulations that abolish EP result in a decreased hearing threshold or total deafness. We hypothesize that the EP is produced and maintained by a cadre of K+ channels in the apical membrane of ..
  59. Regulation of outer hair cell electromotility and noise-induced hearing loss
    Gregory I Frolenkov; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Excessively loud sounds and noise are among the leading causes of deafness and hearing impairment in the US...
  60. The role of CEACAM1 in CMV pathogenesis in the human placenta
    Takako Tabata; Fiscal Year: 2012
    ..growth restriction and permanent birth defects, including mental retardation, neurological defects, and deafness. Temporary symptoms of congenital disease can result from lack of nutrient and oxygen transport to the fetus ..
  61. Synaptic basis of perceptual learning in primary auditory cortex
    ROBERT CROOKS FROEMKE; Fiscal Year: 2013
    ..signals such as speech, for the use of devices such as cochlear implants, and for recovery after short-term deafness. These changes are thought to occur primarily at synapses, basic units of information processing and plasticity...
  62. Regulation of cochlea hair cell differentiation by the Lin28b/let-7 axis
    Erin Golden; Fiscal Year: 2013
    ..proper development and maintenance of this epithelium is critical for hearing, and loss of these cells leads to deafness. While many vertebrates, including birds and reptiles, are able to regenerate damaged hair cells, mammals (..
  63. Sensory cell fate specification in the inner ear
    Douglas J Epstein; Fiscal Year: 2012
    ..Progress continues to be made in identifying the causes of hereditary forms of deafness and vestibular disease in humans...
  64. DEAFNESS AND OSSIFICATION IN LABYRINTHITIS OSSIFICANS
    Hilary Brodie; Fiscal Year: 2004
    ..It is multifactorial in origin and may result in deafness. Profound hearing loss and LO in children are most commonly associated with meningogenic labyrinthitis...
  65. Molecular neuroanatomy of the cochlear nucleus in deafness
    Maria E Rubio; Fiscal Year: 2010
    Our long-term goal is to understand the role of hearing and deafness in the distribution and expression of transmitter receptors...
  66. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2010
    ..Our previous studies indicated that the A1555G mutation is a primary factor for the development of deafness and nuclear modifier genes modulate the expression of deafness associated with this mutation...
  67. Marking hair cell progenitors with BAC transgenics
    Neil Segil; Fiscal Year: 2004
    Sensory hair cell loss is the leading cause of deafness in humans...
  68. FUNCTIONAL EFFECTS OF DEAFNESS AND NEURAL STIMULATION
    BRYAN PFINGST; Fiscal Year: 2005
    DESCRIPTION(adapted from applicant's abstract): Deafness resulting from destruction of the inner ear is accompanied by partial degeneration of the auditory nerve as well as anatomical, physiological and molecular changes throughout the ..
  69. THEORETICAL ISSUES IN SIGN LANGUAGE RESEARCH
    Karen Emmorey; Fiscal Year: 1992
    ..crucial to our understanding of the biological foundations of human language, as well as to our understanding of deafness and the designing and implementation of policies and programs for the deaf...
  70. CONFERENCE ON MOLECULAR BIOLOGY OF HEARING AND DEAFNESS
    Allen Ryan; Fiscal Year: 2009
    ..by applicant): Partial support is requested to host the 7th Conference on the Molecular Biology of Hearing and Deafness. The conference will be held in Boston, MA in June, 2009...
  71. Mechanism of Opiate Induced Audiovestibular Dysfunction
    Gail Ishiyama; Fiscal Year: 2006
    The focus of this project will be the cellular and molecular mechanism mediating opiate-induced deafness and vestibular dysfunction...