Human hereditary hearing impairment: Mouse models can help to solve the puzzle

Human Genetics

Volumn 124, Issue 4, 2008, Pages 325-348

  Vrijens, Karen ^a   Van Laer, Lut ^a   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANION CHANNEL; BINDING PROTEIN; CADHERIN; CADHERIN 23; CATION CHANNEL; COCHLIN; CONTRACTILE PROTEIN; CYTOSKELETON PROTEIN; ESPIN PROTEIN; GAP JUNCTION PROTEIN; MEPROBAMATE; MYOSIN; PROTEIN SANS; PROTOCADHERIN 15; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EYA1; TRANSCRIPTION FACTOR FOX11; TRANSCRIPTION FACTOR POU3F4; UNCLASSIFIED DRUG; WHIRLIN PROTEIN;

AGING; AUDITORY NERVOUS SYSTEM; COCHLEA; COCHLEA DUCT; COCHLEAR NERVE; DISEASE MODEL; EXTRACELLULAR MATRIX; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HAIR CELL; HEARING IMPAIRMENT; HEARING LOSS; HEREDITARY HEARING IMPAIRMENT; HOMEOSTASIS; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; MECHANOTRANSDUCTION; NERVE CONDUCTION; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; TIGHT JUNCTION; USHER SYNDROME;

ANIMALS; DISEASE MODELS, ANIMAL; HEARING LOSS; HUMANS; MICE;

MUS;

EID: 55849129585     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0556-y     Document Type: Review

References (223)

1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15(2):157-164
2. Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C (2005a) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 14(24):3921-3932
3. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C (2005b) Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 14(3):347-356
4. Adler L, Efrati E, Zelikovic I (2008) Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene. Am J Physiol 294(5):C1261-C1276
5. Ahmad NN, Dimascio J, Knowlton RG, Tasman WS (1995) Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Arch Ophthalmol 113(11):1454-1457
6. Ahmad S, Chen S, Sun J, Lin X (2003) Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun 307(2):362-368
7. Ahmad S, Tang W, Chang Q, Qu Y, Hibshman J, Li Y, Sohl G, Willecke K, Chen P, Lin X (2007) Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc Natl Acad Sci USA 104(4):1337-1341
8. Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB (2006) The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci 26(26):7022-7034
9. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER (2003) Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 72(5):1315-1322
10. Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69(1):25-34
11. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110(6):527-531
12. Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP (2001) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 27(1):99-102
13. Ashmore JF (1987) A fast motile response in guinea-pig outer hair cells: the cellular basis of the cochlear amplifier. J Physiol 388:323-347
14. Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA (1995) The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat Genet 11(4):369-375
15. Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ (2007) Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 122(5):451-457
16. Bai U, Seidman MD, Hinojosa R, Quirk WS (1997) Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study. Am J Otol 18(4):449-453
17. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248(4960):1224-1227
18. Belyantseva IA, Boger ET, Friedman TB (2003) Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci USA 100(24):13958-13963
19. Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB (2005) Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol 7(2):148-156
20. Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB (2003) Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 12(16):2049-2061
21. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 26(1):56-60
22. Boeda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 21(24):6689-6699
23. Bok D, Galbraith G, Lopez I, Woodruff M, Nusinowitz S, BeltrandelRio H, Huang W, Zhao S, Geske R, Montgomery C, Van Sligtenhorst I, Friddle C, Platt K, Sparks MJ, Pushkin A, Abuladze N, Ishiyama A, Dukkipati R, Liu W, Kurtz I (2003) Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat Genet 34(3):313-319
24. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 68(1):26-37
25. Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM (1995) Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Hum Mol Genet 4(1):141-142
26. Brownell WE, Bader CR, Bertrand D, de Ribaupierre Y (1985) Evoked mechanical responses of isolated cochlear outer hair cells. Science 227(4683):194-196
27. Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ (2005) Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet 42(10):e61
28. Cho KI, Suh JG, Lee JW, Hong SH, Kang TC, Oh YS, Ryoo ZY (2006) The circling mouse (C57BL/6J-cir) has a 40-kilobase genomic deletion that includes the transmembrane inner ear (tmie) gene. Comp Med 56(6):476-481
29. Christensen K, Frederiksen H, Hoffman HJ (2001) Genetic and environmental influences on self-reported reduced hearing in the old and oldest old. J Am Geriatr Soc 49(11):1512-1517
30. Cohen-Salmon M, El-Amraoui A, Leibovici M, Petit C (1997) Otogelin: A glycoprotein specific to the acellular membranes of the inner ear. Proc Natl Acad Sci USA 94(26):14450-14455
31. Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, Petit C (2002) Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 12(13):1106-1111
32. Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H (2008) Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 29(4):545-554
33. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 12(4):421-423
34. Dai P, Yang W, Jiang S, Gu R, Yuan H, Han D, Guo W, Cao J (2004) Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis. Acta Otolaryngol 124(2):130-136
35. Dallos P, Corey ME (1991) The role of outer hair cell motility in cochlear tuning. Curr Opin Neurobiol 1(2):215-220
36. Dallos P, Wu X, Cheatham MA, Gao J, Zheng J, Anderson CT, Jia S, Wang X, Cheng WH, Sengupta S, He DZ, Zuo J (2008) Prestin-based outer hair cell motility is necessary for mammalian cochlear amplification. Neuron 58(3):333-339
37. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267(5198):685-688
38. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346(4):243-249
39. Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C (2006) Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38(7):770-778
40. Deol MS (1956) The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond B Biol Sci 145(919):206-213
41. Deol MS, Green MC (1966) Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse. Genet Res 8(3):339-345
42. Depreux FF, Darrow K, Conner DA, Eavey RD, Liberman MC, Seidman CE, Seidman JG (2008) Eya4-deficient mice are a model for heritable otitis media. J Clin Invest 118(2):651-658
43. Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 27(1):103-107
44. Dierich A, Kieffer BL (2004) Knockout mouse models in pain research. Methods Mol Med 99:269-299
45. Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P (2003) Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 72(6):1571-1577
46. Drayton M, Noben-Trauth K (2006) Mapping quantitative trait loci for hearing loss in Black Swiss mice. Hear Res 212(1-2):128-139
47. Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H (2007) A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 121(2):203-211
48. Eiberger J, Kibschull M, Strenzke N, Schober A, Bussow H, Wessig C, Djahed S, Reucher H, Koch DA, Lautermann J, Moser T, Winterhager E, Willecke K (2006) Expression pattern and functional characterization of connexin29 in transgenic mice. Glia 53(6):601-611
49. El-Amraoui A, Cohen-Salmon M, Petit C, Simmler MC (2001) Spatiotemporal expression of otogelin in the developing and adult mouse inner ear. Hear Res 158(1-2):151-159
50. El-Amraoui A, Petit C (2005) Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 118(Pt 20):4593-4603
51. Erkman L, McEvilly RJ, Luo L, Ryan AK, Hooshmand F, O'Connell SM, Keithley EM, Rapaport DH, Ryan AF, Rosenfeld MG (1996) Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 381(6583):603-606
52. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (1998a) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280(5370):1753-1757
53. Eudy JD, Yao S, Weston MD, Ma-Edmonds M, Talmadge CB, Cheng JJ, Kimberling WJ, Sumegi J (1998b) Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Genomics 50(3):382-384
54. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10(2):153-161
55. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17(4):411-422
56. Finsterer J, Fellinger J (2005) Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 69(5):621-647
57. Fransen E, Lemkens N, Van Laer L, Van Camp G (2003) Age-related hearing impairment (ARHI): Environmental risk factors and genetic prospects. Exp Gerontol 38(4):353-359
58. Fransen E, Topsakal V, Hendrickx JJ, Van Laer L, Huyghe JR, Van Eyken E, Lemkens N, Hannula S, Maki-Torkko E, Jensen M, Demeester K, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kunst S, Manninen M, Diaz-Lacava A, Steffens M, Wienker TF, Pyykko I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning P, Van Camp G (2008) Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: A European population-based multicenter study. J Assoc Res Otolaryngol 9(3):264-276
59. Frolenkov GI (2006) Regulation of electromotility in the cochlear outer hair cell. J Physiol 576(Pt 1):43-48
60. Furness DN, Hackney CM (1985) Cross-links between stereocilia in the guinea pig cochlea. Hear Res 18(2):177-188
61. Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J (2001) Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 17(6):521-522
62. Gabriel HD, Jung D, Butzler C, Temme A, Traub O, Winterhager E, Willecke K (1998) Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 140(6):1453-1461
63. Gates GA, Couropmitree NN, Myers RH (1999) Genetic associations in age-related hearing thresholds. Arch Otolaryngol Head Neck Surg 125(6):654-659
64. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SD (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374(6517):62-64
65. Goodwin M, Yap AS (2004) Classical cadherin adhesion molecules: coordinating cell adhesion, signaling and the cytoskeleton. J Mol Hist 35(8-9):839-844
66. Goodyear R, Richardson G (1992) Distribution of the 275 kD hair cell antigen and cell surface specialisations on auditory and vestibular hair bundles in the chicken inner ear. J Comp Neurol 325(2):243-256
67. Goodyear RJ, Marcotti W, Kros CJ, Richardson GP (2005) Development and properties of stereociliary link types in hair cells of the mouse cochlea. J Comp Neurol 485(1):75-85
68. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (1999) Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23(1):16-18
69. Gruneberg H, Burnett JB, Snell GD (1941) The Origin of Jerker, a New Gene Mutation of the House Mouse, and Linkage Studies Made with It. Proc Natl Acad Sci USA 27(12):562-565
70. Gueta R, Tal E, Silberberg Y, Rousso I (2007) The 3D structure of the tectorial membrane determined by second-harmonic imaging microscopy. J Struct Biol 159(1):103-110
71. Halliwell B, Aruoma OI (1991) DNA damage by oxygen-derived species. Its mechanism and measurement in mammalian systems. FEBS Lett 281(1-2):9-19
72. Hasson T, Gillespie PG, Garcia JA, MacDonald RB, Zhao Y, Yee AG, Mooseker MS, Corey DP (1997) Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137(6):1287-1307
73. Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, Lemort N, Goossens M, Wegner M (1998) Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 95(9):5161-5165
74. Holme RH, Kiernan BW, Brown SD, Steel KP (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol 450(1):94-102
75. Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT (1993) Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 52(3):455-462
76. Hulander M, Kiernan AE, Blomqvist SR, Carlsson P, Samuelsson EJ, Johansson BR, Steel KP, Enerback S (2003) Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 130(9):2013-2025
77. Ikeda A, Zheng QY, Rosenstiel P, Maddatu T, Zuberi AR, Roopenian DC, North MA, Naggert JK, Johnson KR, Nishina PM (1999) Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss. Hum Mol Genet 8(9):1761-1767
78. Ikeda A, Zheng QY, Zuberi AR, Johnson KR, Naggert JK, Nishina PM (2002) Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nat Genet 30(4):401-405
79. Ikezono T, Omori A, Ichinose S, Pawankar R, Watanabe A, Yagi T (2001) Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein. Biochim Biophys Acta 1535(3):258-265
80. Jahnke K (1975) The fine structure of freeze-fractured intercellular junctions in the guinea pig inner ear. Acta Otolaryngol 336:1-40
81. Jervell A, Lange-Nielsen F (1957) Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 54(1):59-68
82. Johnson KR, Cook SA, Erway LC, Matthews AN, Sanford LP, Paradies NE, Friedman RA (1999) Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet 8(4):645-653
83. Johnson KR, Gagnon LH, Webb LS, Peters LL, Hawes NL, Chang B, Zheng QY (2003) Mouse models of USH1C and DFNB18: Phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet 12(23):3075-3086
84. Johnson KR, Zheng QY (2002) Ahl2, a second locus affecting age-related hearing loss in mice. Genomics 80(5):461-464
85. Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 27(2):191-194
86. Johnson KR, Zheng QY, Erway LC (2000) A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice. Genomics 70(2):171-180
87. Johnson KR, Zheng QY, Noben-Trauth K (2006) Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091(1):79-88
88. Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K (2005) The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85(5):582-590
89. Kachar B, Brownell WE, Altschuler R, Fex J (1986) Electrokinetic shape changes of cochlear outer hair cells. Nature 322(6077):365-368
90. Karlsson KK, Harris JR, Svartengren M (1997) Description and primary results from an audiometric study of male twins. Ear Hear 18(2):114-120
91. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, Kachar B (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449(7158):87-91
92. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387(6628):80-83
93. Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S (2007) Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat 28(5):417-423
94. + channels implicate sensory outer hair cells in human progressive deafness. EMBO J 25(3):642-652
95. + channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci USA 97(8):4333-4338
96. Khetarpal U (2000) DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear. Laryngoscope 110(8):1379-1384
97. Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, Taya C, Kamiya K, Yoshikawa Y, Tokano H, Kitamura K, Shimizu K, Wakabayashi Y, Shiroishi T, Kominami R, Yonekawa H (2003) Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 12(5):453-461
98. Kikuchi T, Kimura RS, Paul DL, Takasaka T, Adams JC (2000) Gap junction systems in the mammalian cochlea. Brain Res 32(1):163-166
99. Kitajiri S, Fukumoto K, Hata M, Sasaki H, Katsuno T, Nakagawa T, Ito J, Tsukita S, Tsukita S (2004) Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia. J Cell Biol 166(4):559-570
100. Kitamura K, Kakoi H, Yoshikawa Y, Ochikubo F (1992) Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol 112(4):622-627
101. 2+ -ATPase isoform 2. J Biol Chem 273(30):18693-18696
102. Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96(3):437-446
103. Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y (2003) Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. Hum Mol Genet 12(9):995-1004
104. Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30(3):277-284
105. Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA, Friedman TB (2005) Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol 280(2):295-306
106. Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 67(5):1121-1128
107. Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E (1999) Developmental expression patterns of connexin26 and -30 in the rat cochlea. Dev Genet 25(4):306-311
108. Lautermann J, ten Cate WJ, Altenhoff P, Grummer R, Traub O, Frank H, Jahnke K, Winterhager E (1998) Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 294(3):415-420
109. Legan PK, Lukashkina VA, Goodyear RJ, Kossi M, Russell IJ, Richardson GP (2000) A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 28(1):273-285
110. Legan PK, Lukashkina VA, Goodyear RJ, Lukashkin AN, Verhoeven K, Van Camp G, Russell IJ, Richardson GP (2005) A deafness mutation isolates a second role for the tectorial membrane in hearing. Nat Neurosci 8(8):1035-1042
111. Legan PK, Rau A, Keen JN, Richardson GP (1997) The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J Biol Chem 272(13):8791-8801
112. Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R (2001) Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). Dev Dyn 222(2):141-152
113. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18(3):215-217
114. Liberman MC (1980) Morphological differences among radial afferent fibers in the cat cochlea: An electron-microscopic study of serial sections. Hear Res 3(1):45-63
115. Liberman MC, Gao J, He DZ, Wu X, Jia S, Zuo J (2002) Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature 419(6904):300-304
116. Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G (2001) NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. EMBO J 20(19):5347-5353
117. Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci USA 104(11):4413-4418
118. Liu XZ, Ouyang XM, Xia XJ, Zheng J, Pandya A, Li F, Du LL, Welch KO, Petit C, Smith RJ, Webb BT, Yan D, Arnos KS, Corey D, Dallos P, Nance WE, Chen ZY (2003) Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet 12(10):1155-1162
119. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997a) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16(2):188-190
120. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997b) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17(3):268-269
121. Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR (2007) A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. Hear Res 234(1-2):21-28
122. Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005) A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Proc Natl Acad Sci USA 102(22):7894-7899
123. Maeda Y, Fukushima K, Nishizaki K, Smith RJ (2005) In vitro and in vivo suppression of GJB2 expression by RNA interference. Hum Mol Genet 14(12):1641-1650
124. Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ (2005) Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum Genet 118(1):29-34
125. 2+ signaling in the inner ear. Physiology (Bethesda) 22:131-144
126. Mashimo T, Erven AE, Spiden SL, Guenet JL, Steel KP (2006) Two quantitative trait loci affecting progressive hearing loss in 101/H mice. Mamm Genome 17(8):841-850
127. Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34(4):421-428
128. McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ, Richardson GP (2006) The very large G-protein-coupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci 26(24):6543-6553
129. McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ (1999) Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23(4):413-419
130. McGuirt WT, Smith RJ (1999) Connexin 26 as a cause of hereditary hearing loss. Am J Audiol 8(2):93-100
131. Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P (2001) MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 69(3):635-640
132. Mermall V, Post PL, Mooseker MS (1998) Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279(5350):527-533
133. Michel V, Goodyear RJ, Weil D, Marcotti W, Perfettini I, Wolfrum U, Kros CJ, Richardson GP, Petit C (2005) Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol 280(2):281-294
134. Minowa O, Ikeda K, Sugitani Y, Oshima T, Nakai S, Katori Y, Suzuki M, Furukawa M, Kawase T, Zheng Y, Ogura M, Asada Y, Watanabe K, Yamanaka H, Gotoh S, Nishi-Takeshima M, Sugimoto T, Kikuchi T, Takasaka T, Noda T (1999) Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 285(5432):1408-1411
135. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ et al (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8(1):77-81
136. Mulroy MJ, Henry WR, McNeil PL (1998) Noise-induced transient microlesions in the cell membranes of auditory hair cells. Hear Res 115(1-2):93-100
137. Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C (1999) An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 8(3):409-412
138. Nadol JB Jr, Merchant SN (2001) Histopathology and molecular genetics of hearing loss in the human. Int J Pediatr Otorhinolaryngol 61(1):1-15
139. Nayak GD, Ratnayaka HS, Goodyear RJ, Richardson GP (2007) Development of the hair bundle and mechanotransduction. Int J Dev Biol 51(6-7):597-608
140. Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER (2002) Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 71(3):632-636
141. Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB (2004) Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet 41(8):591-595
142. Nemoto M, Morita Y, Mishima Y, Takahashi S, Nomura T, Ushiki T, Shiroishi T, Kikkawa Y, Yonekawa H, Kominami R (2004) Ahl3, a third locus on mouse chromosome 17 affecting age-related hearing loss. Biochem Biophys Res Commun 324(4):1283-1288
143. Neugebauer DC, Thurm U (1984) Chemical dissection of stereovilli from fish inner ear reveals differences from intestinal microvilli. J Neurocytol 13(5):797-808
144. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15(2):186-189
145. Noben-Trauth K, Zheng QY, Johnson KR (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35(1):21-23
146. Noben-Trauth K, Zheng QY, Johnson KR, Nishina PM (1997) mdfw: A deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44(3):266-272
147. Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ (2002) Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet 111(1):26-30
148. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet 40(4):242-248
149. Parker LL, Gao J, Zuo J (2006) Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: The use of public gene-targeted ES cell resources. Brain Res 1091(1):235-242
150. Parving A (1999) The need for universal neonatal hearing screening-some aspects of epidemiology and identification. Acta Paediatr Suppl 88(432):69-72
151. Pearson JD, Morrell CH, Gordon-Salant S, Brant LJ, Metter EJ, Klein LL, Fozard JL (1995) Gender differences in a longitudinal study of age-associated hearing loss. J Acoust Soc Am 97(2):1196-1205
152. Phippard D, Lu L, Lee D, Saunders JC, Crenshaw EB 3rd (1999) Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci 19(14):5980-5989
153. Pickles JO, Comis SD, Osborne MP (1984) Cross-links between stereocilia in the guinea pig organ of Corti, and their possible relation to sensory transduction. Hear Res 15(2):103-112
154. Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18(2):171-173
155. Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280(5368):1444-1447
156. Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall-Taylor P, Trembath R (1999) Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 36(8):595-598
157. Rehm HL, Morton CC (1999) A new age in the genetics of deafness. Genet Med 1(6):295-302; quiz 303
158. Ren T, Gillespie PG (2007) A mechanism for active hearing. Curr Opin Neurobiol 17(4):498-503
159. Rhodes CR, Hertzano R, Fuchs H, Bell RE, de Angelis MH, Steel KP, Avraham KB (2004) A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm Genome 15(9):686-697
160. Rhys Evans PH, Comis SD, Osborne MP, Pickles JO, Jeffries DJ (1985) Cross-links between stereocilia in the human organ of Corti. J Laryngol Otol 99(1):11-19
161. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103(4):393-399
162. Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, and Morton CC (2008) A targeted Coch missense mutation: A knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet
163. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 20(3):299-303
164. Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C (2006) Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127(2):277-289
165. Rybak LP (1992) Hearing: The effects of chemicals. Otolaryngol Head Neck Surg 106(6):677-686
166. Rzadzinska AK, Schneider ME, Davies C, Riordan GP, Kachar B (2004) An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal. J Cell Biol 164(6):887-897
167. Schneider ME, Belyantseva IA, Azevedo RB, Kachar B (2002) Rapid renewal of auditory hair bundles. Nature 418(6900):837-838
168. Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med 352(15):1557-1564
169. Schulze-Bahr E, Haverkamp W, Wedekind H, Rubie C, Hordt M, Borggrefe M, Assmann G, Breithardt G, Funke H (1997) Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet 100(5-6):573-576
170. Seidman MD, Ahmad N, Bai U (2002) Molecular mechanisms of age-related hearing loss. Ageing Res Rev 1(3):331-343
171. Seidman MD, Bai U, Khan MJ, Murphy MJ, Quirk WS, Castora FL, Hinojosa R (1996) Association of mitochondrial DNA deletions and cochlear pathology: A molecular biologic tool. Laryngoscope 106(6):777-783
172. Seidman MD, Bai U, Khan MJ, Quirk WS (1997) Mitochondrial DNA deletions associated with aging and presbyacusis. Arch Otolaryngol Head Neck Surg 123(10):1039-1045
173. Sekerkova G, Zheng L, Loomis PA, Changyaleket B, Whitlon DS, Mugnaini E, Bartles JR (2004) Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells. J Neurosci 24(23):5445-5456
174. Self T, Mahony M, Fleming J, Walsh J, Brown SD, Steel KP (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125(4):557-566
175. Self T, Sobe T, Copeland NG, Jenkins NA, Avraham KB, Steel KP (1999) Role of myosin VI in the differentiation of cochlear hair cells. Dev Biol 214(2):331-341
176. Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S (2006) Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet 43(8):634-640
177. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Muller U (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci USA 99(23):14946-14951
178. Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Muller U (2004) Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature 428(6986):950-955
179. Spicer SS, Schulte BA (1996) The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hear Res 100(1-2):80-100
180. Spoendlin H (1985) Anatomy of cochlear innervation. Am J Otolaryngol 6(6):453-467
181. Steel KP, Bock GR (1983) Cochlear dysfunction in the jerker mouse. Behav Neurosci 97(3):381-391
182. Szymko-Bennett YM, Kurima K, Olsen B, Seegmiller R, Griffith AJ (2003) Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. Hear Res 175(1-2):178-182
183. Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP (1994) PAX3 gene structure and mutations: Close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet 3(7):1069-1074
184. Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Sohl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, Willecke K (2003) Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 12(1):13-21
185. Thalmann I, Thallinger G, Crouch EC, Comegys TH, Barrett N, Thalmann R (1987) Composition and supramolecular organization of the tectorial membrane. Laryngoscope 97(3 Pt 1):357-367
186. Tsukita S, Furuse M (2002) Claudin-based barrier in simple and stratified cellular sheets. Curr Opin Cell Biol 14(5):531-536
187. Tsukita S, Furuse M, Itoh M (2001) Multifunctional strands in tight junctions. Nat Rev 2(4):285-293
188. Tsunoda S, Sierralta J, Sun Y, Bodner R, Suzuki E, Becker A, Socolich M, Zuker CS (1997) A multivalent PDZ-domain protein assembles signalling complexes in a G-protein-coupled cascade. Nature 388(6639):243-249
189. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279(5358):1950-1954
190. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406(6794):419-422
191. Van Eyken E, Van Camp G, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Maki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers CW, Kunst S, Manninen M, Pyykko I, Lacava A, Steffens M, Wienker TF, Van Laer L (2007) Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment. J Med Genet 44(9):570-578
192. Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 20(2):194-197
193. Van Laer L, Pfister M, Thys S, Vrijens K, Mueller M, Umans L, Serneels L, Van Nassauw L, Kooy F, Smith RJ, Timmermans JP, Van Leuven F, Van Camp G (2005) Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Neurobiol Dis 19(3):386-399
194. Van Laer L, Van Eyken E, Fransen E, Huyghe JR, Topsakal V, Hendrickx JJ, Hannula S, Maki-Torkko E, Jensen M, Demeester K, Baur M, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen P, Kunst S, Manninen M, Konings A, Diaz-Lacava AN, Steffens M, Wienker TF, Pyykko I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Van Camp G (2008) The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet 17(2):159-169
195. van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H (2004) Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 74(4):738-744
196. Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19(1):60-62
197. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26(1):51-55
198. Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, l Malefijt MC, van den Hoogen FH, Ropers HH et al (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80(3):431-437
199. Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabe De Angelis M, Avraham KB, Steel KP (2002) Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 30(3):257-258
200. Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB (2002) From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci USA 99(11):7518-7523
201. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (1998) Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 280(5368):1447-1451
202. + cycling and the endocochlear potential. Hear Res 165(1-2):1-9
203. Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigo R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, et al. (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420(6915):520-562
204. Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (2001) Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 10(3):195-200
205. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD et al (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374(6517):60-61
206. Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 74(2):357-366
207. Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB (2001) Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 104(1):165-172
208. Williams LA, Martin-Padura I, Dejana E, Hogg N, Simmons DL (1999) Identification and characterisation of human junctional adhesion molecule (JAM). Mol Immunol 36(17):1175-1188
209. Willott JF, Tanner L, O'Steen J, Johnson KR, Bogue MA, Gagnon L (2003) Acoustic startle and prepulse inhibition in 40 inbred strains of mice. Behav Neurosci 117(4):716-727
210. Wolf SE, Woodside KJ (2005) Transgenic and gene knock-out techniques and burn research. J Surg Res 123(2):328-339
211. Yagi H, Takamura Y, Yoneda T, Konno D, Akagi Y, Yoshida K, Sato M (2005) Vlgr1 knockout mice show audiogenic seizure susceptibility. J Neurochem 92(1):191-202
212. 2+ from hair cell stereocilia. J Neurosci 18(2):610-624
213. Yang JJ, Huang SH, Chou KH, Liao PJ, Su CC, Li SY (2007a) Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol Neurootol 12(3):198-208
214. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ (2007b) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80(6):1055-1063
215. Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C (2000) OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 67(3):591-600
216. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (1999) A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21(4):363-369
217. Young WY, Zhao L, Qian Y, Li R, Chen J, Yuan H, Dai P, Zhai S, Han D, Guan MX (2006) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am J Med Genet A 140(20):2188-2197
218. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6(9):1605-1609
219. Zhang X, Han D, Ding D, Dai P, Yang W, Jiang S, Salvi RJ (2002) Cochlear mitochondrial DNA3867 bp deletion in aged mice. Chin Med J (Engl) 115(9):1390-1393
220. Zhao HB, Kikuchi T, Ngezahayo A, White TW (2006) Gap junctions and cochlear homeostasis. J Membr Biol 209(2-3):177-186
221. Zheng L, Sekerkova G, Vranich K, Tilney LG, Mugnaini E, Bartles JR (2000) The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102(3):377-385
222. Zheng QY, Johnson KR, Erway LC (1999) Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130(1-2):94-107
223. Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C (2002) Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci USA 99(9):6240-6245