Thomas B Friedman

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. 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
  2. ncbi request reprint DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:124-30. 2002
  3. ncbi request reprint Human nonsyndromic sensorineural deafness
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Annu Rev Genomics Hum Genet 4:341-402. 2003
  4. ncbi request reprint Unconventional myosins and the genetics of hearing loss
    T B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, MD 20854, USA
    Am J Med Genet 89:147-57. 1999
  5. doi request reprint Usher syndrome: hearing loss with vision loss
    Thomas B Friedman
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders NIDCD, National Institutes of Health NIH, Rockville, MD, USA
    Adv Otorhinolaryngol 70:56-65. 2011
  6. ncbi request reprint 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
  7. 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
  8. doi request reprint Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Hum Mutat 29:502-11. 2008
  9. 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
  10. ncbi request reprint PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003

Detail Information

Publications86

  1. 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
    ....
  2. ncbi request reprint DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:124-30. 2002
    ....
  3. ncbi request reprint Human nonsyndromic sensorineural deafness
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Annu Rev Genomics Hum Genet 4:341-402. 2003
    ..The state of knowledge concerning their biological roles is discussed in the context of the controversies within an evolving understanding of the intricate molecular machinery of the inner ear...
  4. ncbi request reprint Unconventional myosins and the genetics of hearing loss
    T B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, MD 20854, USA
    Am J Med Genet 89:147-57. 1999
    ..This review focuses on what we know about the molecular genetics and biochemistry of myosins VI, VIIA and XV as relates to hereditary hearing loss. Am. J. Med. Genet. (Semin. Med. Genet.) 89:147-157, 1999. Published 2000 Wiley-Liss, Inc...
  5. doi request reprint Usher syndrome: hearing loss with vision loss
    Thomas B Friedman
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders NIDCD, National Institutes of Health NIH, Rockville, MD, USA
    Adv Otorhinolaryngol 70:56-65. 2011
    ..At least nine genes have been identified with mutations that can cause USH. The proteins encoded by these genes are thought to interact with one another to form a network in the sensory cells of the inner ear and retina...
  6. ncbi request reprint 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
    ..Our results suggest that Cdh23 participation in stereocilia links may be restricted to developing hair bundles...
  7. 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
    ..Does homozygosity for both v and av mutant alleles (i.e., a double homozygous mouse) cause retinal degeneration or an obvious retinal histopathology?..
  8. doi request reprint Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Hum Mutat 29:502-11. 2008
    ..This finding is consistent with the hypothesis that p.E1716del causes a less severe phenotype (DFNB2) than the USH1B-associated alleles because the resulting protein retains some degree of normal function...
  9. 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...
  10. ncbi request reprint PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003
    ..Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function...
  11. doi request reprint 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
    ..The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth...
  12. ncbi request reprint Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
    Ricky J L Haywood-Watson
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850, and the Molecular and Cellular Biology Program, Tulane University, New Orleans, LA, USA
    Invest Ophthalmol Vis Sci 47:3074-84. 2006
    ..In this study, the auditory, visual and molecular biological phenotype of Pcdh15av-5J and Pcdh15av-Jfb mice is characterized, and their usefulness as animal models of USH1 is evaluated...
  13. ncbi request reprint Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
    ..The interaction of myosin-XVa and whirlin is therefore a key event in hair-bundle morphogenesis...
  14. pmc Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 85:25-39. 2009
    ..Overexpression of HGF is associated with progressive degeneration of outer hair cells in the cochlea, whereas cochlear deletion of Hgf is associated with more general dysplasia...
  15. pmc Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
    Atteeq U 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 94:144-52. 2014
    ..Although the causal relationship between genotype and phenotype is not presently understood, our findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness. ..
  16. pmc Tricellulin is a tight-junction protein necessary for hearing
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 79:1040-51. 2006
    ..A wild-type isoform of tricellulin, which lacks this conserved region, is unaffected by the mutant alleles and is hypothesized to be sufficient for structural and functional integrity of epithelial barriers outside the inner ear...
  17. ncbi request reprint The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    J Neurosci 26:7022-34. 2006
    ..Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation...
  18. pmc Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Am J Hum Genet 85:273-80. 2009
    ..We demonstrate that BSND mutations with different functional consequences are the basis for either syndromic or nonsyndromic deafness...
  19. ncbi request reprint A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 348:1664-70. 2003
  20. pmc Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
    Saima Riazuddin
    Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA
    BMC Med Genet 12:21. 2011
    ..Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia...
  21. pmc Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health NIH, Rockville, MD 20850, USA
    Am J Hum Genet 78:137-43. 2006
    ..Genetic heterogeneity at this locus is suggested by three additional families that show significant evidence of linkage of deafness to markers on chromosome 22q13 but that apparently have no mutations in the TRIOBP gene...
  22. ncbi request reprint Genetic modifiers of hereditary hearing loss
    Saima Riazuddin
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:224-9. 2002
  23. ncbi request reprint 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
  24. ncbi request reprint Recent advances in the understanding of syndromic forms of hearing loss
    Thomas B Friedman
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA
    Ear Hear 24:289-302. 2003
  25. pmc Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear
    Linda M Peters
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Genomics 89:197-206. 2007
    ..Utilization of these resources will increase the number of known transcription units and expand our knowledge of the tissue-specific regulation of the transcriptome...
  26. pmc Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing
    Shin ichiro Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Cell 141:786-98. 2010
    ..Thus, F-actin bundling by TRIOBP provides durability and rigidity for normal mechanosensitivity of stereocilia and may contribute to resilient cytoskeletal structures elsewhere...
  27. pmc Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
    Zubair M Ahmed
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 124:215-23. 2008
    ..1...
  28. ncbi request reprint Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 110:527-31. 2002
    ..We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18...
  29. pmc A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction
    Sue I Lee
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Ct, 2A 19, Rockville, MD 20850, USA
    Hear Res 300:1-9. 2013
    ..Our results suggest that Kcna10 is expressed primarily in hair cells of the inner ear, with little evidence of expression in other organs. The Kcna10(TM45) targeted allele may be a model of human nonsyndromic vestibulopathy...
  30. ncbi request reprint Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing
    Nevra Nal
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA
    Hum Mutat 28:1014-9. 2007
    ..These data demonstrate that isoform 1, containing the large N-terminal extension, is also necessary for normal hearing...
  31. pmc Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
    Atteeq U Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 130:759-65. 2011
    ..Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81...
  32. pmc Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
    Sadaf Naz
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA
    Am J Hum Genet 71:632-6. 2002
    ..TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene...
  33. pmc Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
    Zubair M Ahmed
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    BMC Med Genet 5:24. 2004
    ....
  34. 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
    ....
  35. pmc Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle
    Inna A Belyantseva
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Proc Natl Acad Sci U S A 100:13958-63. 2003
    ..We propose that myosin XVa is essential for the graded elongation of stereocilia during their functional maturation...
  36. pmc Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Nat Genet 40:1335-40. 2008
    ..We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents...
  37. pmc Actin in hair cells and hearing loss
    Meghan C Drummond
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Hear Res 288:89-99. 2012
    ..There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system...
  38. ncbi request reprint The genetic bases for syndromic and nonsyndromic deafness among Jews
    Tamar Ben-Yosef
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Trends Mol Med 9:496-502. 2003
    ..These and other examples of common mutations within a distinct population allow for sensitive and specific use of genetic testing for carrier screening and diagnosis, and are an impetus for development of therapeutic strategies...
  39. pmc Gamma-actin is required for cytoskeletal maintenance but not development
    Inna A Belyantseva
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders National Institutes of Health, Rockville, MD 20850, USA
    Proc Natl Acad Sci U S A 106:9703-8. 2009
    ..We conclude that gamma(cyto)-actin is required for reinforcement and long-term stability of F-actin-based structures but is not an essential building block of the developing cytoskeleton...
  40. ncbi request reprint Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
    Linda M Peters
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Mol Genet 11:2877-85. 2002
    ..Northern blot analyses and in situ hybridization studies show that mouse Tfcp2l3 is expressed in many epithelial tissues, including cells lining the cochlear duct, at embryonic day 18.5 and postnatal day 5...
  41. ncbi request reprint 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...
  42. ncbi request reprint Stereocilia: the long and the short of it
    Inna A Belyantseva
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Trends Mol Med 9:458-61. 2003
    ..Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing...
  43. pmc Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
    Rivka A Rachel
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 122:1233-45. 2012
    ..Amelioration of the sensory phenotypes caused by specific mutations in one protein by removal of an interacting domain/protein suggests a possible novel approach for treating human ciliopathies...
  44. ncbi request reprint Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Mol Genet 12:2049-61. 2003
    ..Our data suggest that the TJ complex at the apex of the reticular lamina requires claudin 14 as a cation-restrictive barrier to maintain the proper ionic composition of the fluid surrounding the basolateral surface of outer hair cells...
  45. ncbi request reprint Usher syndrome type 1: genotype-phenotype relationships
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Retina 25:S40-S42. 2005
  46. ncbi request reprint Genetic insights into the morphogenesis of inner ear hair cells
    Gregory I Frolenkov
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Nat Rev Genet 5:489-98. 2004
  47. ncbi request reprint Clinical manifestations of DFNB29 deafness
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Adv Otorhinolaryngol 61:156-60. 2002
  48. ncbi request reprint 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
    ..R34X and other mutations of TMC1 are prevalent contributors to the genetic load of deafness across a variety of populations and continents...
  49. ncbi request reprint Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
    E R Wilcox
    Laboratory of Molecular Genetics, 5 Research Court, NIDCD NIH, Rockville, MD 20850, USA
    Cell 104:165-72. 2001
    ..In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti...
  50. ncbi request reprint Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    A Wang
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Science 280:1447-51. 1998
    ..Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness...
  51. ncbi request reprint Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    R Morell
    Department of Zoology, Michigan State University, East Lansing, USA
    Hum Mol Genet 6:659-64. 1997
    ....
  52. ncbi request reprint Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    N Liburd
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A 015, Rockville, MD 20850, USA
    Hum Genet 109:535-41. 2001
    ..In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss...
  53. 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
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  54. pmc Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan
    B Y Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Clin Genet 75:237-43. 2009
    ..This isoform must be required for human hearing because it encodes a unique alternative C-terminus affected by some DFNB9 mutations...
  55. ncbi request reprint Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    S Riazuddin
    Laboratory of Molecular Genetics, NIDCD NIH, Rockville, Maryland, USA
    Nat Genet 26:431-4. 2000
    ..A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815...
  56. ncbi request reprint 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
    ..Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is required for normal function of cochlear hair cells...
  57. pmc Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland, USA
    J Clin Invest 121:4516-25. 2011
    ..These data collectively provide mechanistic insight into hearing loss caused by SLC26A4 mutations and establish a model for further studies of EVA-associated hearing loss...
  58. ncbi request reprint A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait
    Robert J Morell
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Hum Genet 122:103-11. 2007
    ..These findings should help illuminate the etiology of APDs, and help to clarify the relationships between auditory processing abilities and learning/language disorders associated with APDs...
  59. ncbi request reprint A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1
    S Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Clin Genet 71:148-52. 2007
    ..The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype...
  60. pmc Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT
    A J Griffith
    Laboratory of Molecular Genetics and Neuro Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA gov
    Am J Hum Genet 67:745-9. 2000
    ....
  61. pmc Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
    S Naz
    Section on Human Genetics, LMG, NIDCD, NIH, Rockville, MD 20850, USA
    J Med Genet 41:591-5. 2004
    ..The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness...
  62. ncbi request reprint Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss
    V Labay
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Clin Genet 73:50-4. 2008
    ..Our results provide strong genetic evidence that 7510T>C is a pathogenic mutation that causes non-syndromic SNHL...
  63. ncbi request reprint Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    R J Morell
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 339:1500-5. 1998
    ..We assessed the contribution of mutations in GJB2 to the prevalence of the condition among Ashkenazi Jews...
  64. ncbi request reprint Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
    Y Liang
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders NIDCD, National Institutes of Health NIH, 5 Research Court, Rockville, Maryland, 20850, USA
    Genomics 61:243-58. 1999
    ..These results indicate a likely role for myosin XV in the formation or maintenance of the unique actin-rich structures of inner ear sensory hair cells...
  65. ncbi request reprint A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25
    R J Morell
    Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, Maryland 20850, USA
    Genomics 63:1-6. 2000
    ..Radiation hybrid mapping with Stanford G3 and TNG panels was used to evaluate the genes ACTG1, GRIN2C, FKHL13, P4HB, SPARC, and ARHGDIA as candidates for DFNA20...
  66. ncbi request reprint PAX3 gene structure, alternative splicing and evolution
    T D Barber
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Gene 237:311-9. 1999
    ..The sequences and alternative transcripts reported herein extend our understanding of the function and evolution of PAX3 in vertebrates and enable a comprehensive mutation screen for individuals with Waardenburg syndrome...
  67. pmc Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
    Y Liang
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, RockvilleMaryland 20850, USA
    Am J Hum Genet 62:904-15. 1998
    ..Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3...
  68. 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
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F...
  69. ncbi request reprint Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma
    Thomas D Barber
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Genomics 79:278-84. 2002
    ....
  70. ncbi request reprint Human myosin XVBP is a transcribed pseudogene
    E T Boger
    Laboratory of Molecular Genetics, Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    J Muscle Res Cell Motil 22:477-83. 2001
    ..Analyses of these myosin XVBP cDNAs revealed numerous additional disablements including translational reading frame shifts resulting in stop codons. From these data we conclude that myosin XVBP is a transcribed, unprocessed pseudogene...
  71. ncbi request reprint The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
    D W Anderson
    Laboratory of Molecular Genetics and Laboratory of Cell Biology, NIDCD, Rockville, MD 20850, USA
    Hum Mol Genet 9:1729-38. 2000
    ..Both the shaker 2 and shaker 2(J) alleles result in abnormally short hair cell stereocilia in the cochlear and vestibular systems. This suggests that Myo15 may be important for both the structure and function of these sensory epithelia...
  72. doi request reprint A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1
    L M Peters
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Clin Genet 73:367-72. 2008
    ..7-cM interval on chromosome 4q12-13.1. The DFNA27 interval spans 8.85 Mb and includes at least 61 predicted and 8 known genes. We sequenced eight genes and excluded them as candidates for the DFNA27 gene...
  73. pmc USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23
    Z M Ahmed
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Clin Genet 75:86-91. 2009
    ..92-cM interval. This locus overlaps the non-syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations...
  74. ncbi request reprint 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
    ..Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively...
  75. ncbi request reprint A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
    Khushnooda Ramzan
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore 53700, Pakistan
    Hum Genet 116:17-22. 2005
    ..The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness...
  76. ncbi request reprint Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
    Shahid Y Khan
    National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Hum Mutat 28:417-23. 2007
    ..Further, high-resolution confocal microscopy in mouse inner ear demonstrates that radixin is expressed along the length of stereocilia of hair cells from both the organ of Corti and the vestibular system...
  77. ncbi request reprint Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
    Arti Pandya
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Genet Med 5:295-303. 2003
    ....
  78. ncbi request reprint The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
    Quratul Ain
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan
    Hum Genet 122:445-50. 2007
    ..DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p...
  79. ncbi request reprint Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3
    Shahid Y Khan
    National Center of Excellence in Molecular Biology, University of Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan
    Hum Genet 120:789-93. 2007
    ..82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system...
  80. pmc Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:125-38. 2008
    ..Our data indicate that ESRRB is essential for inner-ear development and function. To our knowledge, this is the first report of pathogenic mutations of an estrogen-related receptor gene...
  81. ncbi request reprint The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa
    Zippora Brownstein
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Pediatr Res 55:995-1000. 2004
    ..Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit...
  82. ncbi request reprint DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1
    Jamil Ahmad
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700 Pakistan
    Hum Genet 116:407-12. 2005
    ..The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population...
  83. pmc A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12
    Rehan Sadiq Shaikh
    Am J Med Genet A 138:392-5. 2005
  84. ncbi request reprint Auditory function and the M34T allele of connexin 26
    Andrew J Griffith
    Arch Otolaryngol Head Neck Surg 128:94. 2002
  85. ncbi request reprint 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
    ..These results identify Gfi1 as the first downstream target of a hair cell specific transcription factor and suggest that outer hair cell degeneration in Pou4f3 mutants is largely or entirely a result of the loss of expression of Gfi1...
  86. pmc Auditory mechanotransduction in the absence of functional myosin-XVa
    Ruben Stepanyan
    Department of Physiology, University of Kentucky, MS508, Chandler Medical Center, 800 Rose Street, Lexington, KY 40536, USA
    J Physiol 576:801-8. 2006
    ..Thus, the hair cell mechanotransduction complex forms and functions independently from myosin-XVa-based hair bundle morphogenesis...