Research Topics
Genomes and Genes
| Thomas B FriedmanSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Unconventional myosins and the genetics of hearing lossT 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...- DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlationThomas 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.... - Human nonsyndromic sensorineural deafnessThomas 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... 
Usher syndrome: hearing loss with vision lossThomas 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...
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationZubair 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?..- Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima 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... - Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Atteeq 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... - Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell developmentAyala 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... - Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie 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... - PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23Zubair 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... - Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereociliaInna 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... - Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcriptsRicky 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... - Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39Julie 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... - The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair 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... - Tricellulin is a tight-junction protein necessary for hearingSaima 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... - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndromeTamar 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 - Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndromeSaima 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... - Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima 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... - Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima 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... - Genetic modifiers of hereditary hearing lossSaima 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 - Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner earLinda 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... - Recent advances in the understanding of syndromic forms of hearing lossThomas B Friedman
Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA
Ear Hear 24:289-302. 2003 - Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndromeZubair 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... - Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearingShin 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... - Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1DAyala 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.... - Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq 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... - Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHICZubair 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... - Clinical presentation of DFNB12 and Usher syndrome type 1DJulie 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 - Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra 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... - Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair 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.... - Actin in hair cells and hearing lossMeghan 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... - Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanZubair 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.... - Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair 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... - The genetic bases for syndromic and nonsyndromic deafness among JewsTamar 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... - Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locusSadaf 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... - Stereocilia: the long and the short of itInna 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... - Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundleInna 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... - Deafness and stria vascularis defects in S1P2 receptor-null miceMari 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... - Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28Linda 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... - Gamma-actin is required for cytoskeletal maintenance but not developmentInna 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... - Usher syndrome type 1: genotype-phenotype relationshipsThomas 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 - Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degenerationTamar 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... - Clinical manifestations of DFNB29 deafnessZubair M Ahmed
Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
Adv Otorhinolaryngol 61:156-60. 2002 - Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3A 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... - Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29E 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... - Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in PakistanS 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... - 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.... - Genetic insights into the morphogenesis of inner ear hair cellsGregory 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 - Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN 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... - Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J 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... - Dominant modifier DFNM1 suppresses recessive deafness DFNB26S 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... - Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in PakistanB 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... - Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisitionByung 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... - Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto 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... - A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable traitRobert 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... - Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delTA 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.... - Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing lossV 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... - A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1S 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... - Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunctionS 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... - Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y 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... - Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafnessR 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... - PAX3 gene structure, alternative splicing and evolutionT 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... - A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25R 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... - Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2Y 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... - Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FZ 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... - Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcomaThomas 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.... - A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1L 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... - USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23Z 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... - Human myosin XVBP is a transcribed pseudogeneE 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... - The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cellsD 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... - The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3Quratul 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... - The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora 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... - Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid 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... - Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsArti Pandya
Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia 23298, USA
Genet Med 5:295-303. 2003.... - Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob 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... - Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid 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... - DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1Jamil 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... - Beethoven, a mouse model for dominant, progressive hearing loss DFNA36Sarah 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... - A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1Khushnooda 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... - A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12Rehan Sadiq Shaikh
Am J Med Genet A 138:392-5. 2005 - Auditory function and the M34T allele of connexin 26Andrew J Griffith
Arch Otolaryngol Head Neck Surg 128:94. 2002 - Auditory mechanotransduction in the absence of functional myosin-XVaRuben 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... - Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness geneRonna 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...