메뉴 건너뛰기




Volumn 25, Issue 3, 2014, Pages 289-301

Genetics of peripheral vestibular dysfunction: Lessons from mutant mouse strains

Author keywords

Genetics; Hereditary vestibular disorders; Mutant mouse models; Vestibular; Vestibular evoked potentials

Indexed keywords

ACOUSTIC NERVE FIBER; EXOCYTOSIS; GENE MUTATION; GENETICS; HAIR CELL; HEARING IMPAIRMENT; HOMEOSTASIS; HUMAN; MOUSE; MUTANT MOUSE STRAIN; NERVE POTENTIAL; NEUROTRANSMITTER RELEASE; NONHUMAN; NYSTAGMUS; OTOLITH; PREVALENCE; PRIORITY JOURNAL; REVIEW; STEREOCILIUM; SYNAPSE VESICLE; SYNAPTIC TRANSMISSION; VESTIBULAR DISORDER; VESTIBULAR EVOKED POTENTIAL; VESTIBULAR FUNCTION; ANIMAL; DISEASE MODEL; MUTATION; PATHOPHYSIOLOGY; SYNAPSE; VESTIBULAR NERVE; VESTIBULE; VESTIBULOCOCHLEAR NERVE DISEASE;

EID: 84904460186     PISSN: 10500545     EISSN: None     Source Type: Journal    
DOI: 10.3766/jaaa.25.3.8     Document Type: Review
Times cited : (37)

References (114)
  • 1
    • 0030997512 scopus 로고    scopus 로고
    • Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association
    • DOI 10.1016/S0165-5876(96)01489-9, PII S0165587696014899
    • Admiraal RJ, Huygen PL. (1997) Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. Int J Pediatr Otorhinolaryngol 39(3):205-222. (Pubitemid 27192048)
    • (1997) International Journal of Pediatric Otorhinolaryngology , vol.39 , Issue.3 , pp. 205-222
    • Admiraal, R.J.C.1    Huygen, P.L.M.2
  • 2
    • 0036725601 scopus 로고    scopus 로고
    • Mouse models for human deafness: Current tools for new fashions
    • DOI 10.1016/S1471-4914(02)02388-2, PII S1471491402023882
    • Ahituv N, Avraham KB. (2002) Mouse models for human deafness: current tools for new fashions. Trends Mol Med 8(9):447-451. (Pubitemid 34975992)
    • (2002) Trends in Molecular Medicine , vol.8 , Issue.9 , pp. 447-451
    • Ahituv, N.1    Avraham, K.B.2
  • 5
    • 0035159856 scopus 로고    scopus 로고
    • The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
    • DOI 10.1038/83837
    • 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. (Pubitemid 32044527)
    • (2001) Nature Genetics , vol.27 , Issue.1 , pp. 99-102
    • Alagramam, K.N.1    Murcia, C.L.2    Kwon, H.Y.3    Pawlowski, K.S.4    Wright, C.G.5    Woychik, R.P.6
  • 7
    • 0018833650 scopus 로고
    • Vestibular hair cell pathology in the Shaker-2 mouse
    • DOI 10.1007/BF00455401
    • Anniko M, Sobin A, Wersäll J. (1980) Vestibular hair cell pathology in the Shaker-2 mouse. Arch Otorhinolaryngol 226(1-2):45-50. (Pubitemid 10179813)
    • (1980) Archives of Oto-Rhino-Laryngology , vol.226 , Issue.1-2 , pp. 45-50
    • Anniko, M.1    Sobin, A.2    Wersaell, J.3
  • 8
    • 0001227766 scopus 로고
    • Vestibular function in deafness and severe hardness of hearing
    • Arnvig J. (1955) Vestibular function in deafness and severe hardness of hearing. Acta Otolaryngol 45(4):283-288.
    • (1955) Acta Otolaryngol , vol.45 , Issue.4 , pp. 283-288
    • Arnvig, J.1
  • 9
    • 0028803112 scopus 로고
    • The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
    • Avraham KB, Hasson T, Steel KP, et al. (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.
    • (1995) Nat Genet , vol.11 , Issue.4 , pp. 369-375
    • Avraham, K.B.1    Hasson, T.2    Steel, K.P.3
  • 10
    • 79961158491 scopus 로고    scopus 로고
    • Episodic ataxias 1 and 2
    • Baloh RW. (2012) Episodic ataxias 1 and 2. Handb Clin Neurol 103:595-602.
    • (2012) Handb Clin Neurol , vol.103 , pp. 595-602
    • Baloh, R.W.1
  • 12
    • 84863709625 scopus 로고    scopus 로고
    • Ontogeny of mouse vestibulo-ocular reflex following genetic or environmental alteration of gravity sensing
    • Beraneck M, Bojados M, Le Séac'h A, Jamon M, Vidal PP. (2012) Ontogeny of mouse vestibulo-ocular reflex following genetic or environmental alteration of gravity sensing. PLoS ONE 7(7):e40414.
    • (2012) PLoS ONE , vol.7 , Issue.7
    • Beraneck, M.1    Bojados, M.2    Le Séac'H, A.3    Jamon, M.4    Vidal, P.P.5
  • 13
    • 0031680234 scopus 로고    scopus 로고
    • Deletion mapping of the head tilt (het) gene in mice: A vestibular mutation causing specific absence of otoliths
    • Bergstrom RA, You Y, Erway LC, Lyon MF, Schimenti JC. (1998) Deletion mapping of the head tilt (het) gene in mice: a vestibular mutation causing specific absence of otoliths. Genetics 150(2):815-822. (Pubitemid 28463057)
    • (1998) Genetics , vol.150 , Issue.2 , pp. 815-822
    • Bergstrom, R.A.1    You, Y.2    Erway, L.C.3    Lyon, M.F.4    Schimenti, J.C.5
  • 14
    • 39749132828 scopus 로고    scopus 로고
    • Calcium- and otoferlin-dependent exocytosis by immature outer hair cells
    • DOI 10.1523/JNEUROSCI.4653-07.2008
    • Beurg M, Safieddine S, Roux I, Bouleau Y, Petit C, Dulon D. (2008) Calcium- and otoferlin-dependent exocytosis by immature outer hair cells. J Neurosci 28(8):1798-1803. (Pubitemid 351302659)
    • (2008) Journal of Neuroscience , vol.28 , Issue.8 , pp. 1798-1803
    • Beurg, M.1    Safieddine, S.2    Roux, I.3    Bouleau, Y.4    Petit, C.5    Dulon, D.6
  • 15
    • 0023371561 scopus 로고
    • Familial Menière's disease: A genetic investigation
    • Birgerson L, Gustavson KH, Stahle J. (1987) Familial Menière's disease: a genetic investigation. Am J Otol 8(4):323-326.
    • (1987) Am J Otol , vol.8 , Issue.4 , pp. 323-326
    • Birgerson, L.1    Gustavson, K.H.2    Stahle, J.3
  • 16
    • 0036396927 scopus 로고    scopus 로고
    • Hereditary deafness and phenotyping in humans
    • Bitner-Glindzicz M. (2002) Hereditary deafness and phenotyping in humans. Br Med Bull 63:73-94.
    • (2002) Br Med Bull , vol.63 , pp. 73-94
    • Bitner-Glindzicz, M.1
  • 18
    • 0028376333 scopus 로고
    • Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse
    • Cable J, Huszar D, Jaenisch R, Steel KP. (1994) Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse. Pigment Cell Res 7(1):17-32.
    • (1994) Pigment Cell Res , vol.7 , Issue.1 , pp. 17-32
    • Cable, J.1    Huszar, D.2    Jaenisch, R.3    Steel, K.P.4
  • 19
    • 0028957223 scopus 로고
    • Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse
    • Cable J, Jackson IJ, Steel KP. (1995) Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse. Mech Dev 50(2-3):139-150.
    • (1995) Mech Dev , vol.50 , Issue.2-3 , pp. 139-150
    • Cable, J.1    Jackson, I.J.2    Steel, K.P.3
  • 20
    • 0024880647 scopus 로고
    • Comparative study of the kinetics and mechanisms of dissolution of carbonate minerals
    • Chou L, Garrels RM, Wallast R. (1989) Comparative study of the kinetics and mechanisms of dissolution of carbonate minerals. Chem Geol 78:269-282.
    • (1989) Chem Geol , vol.78 , pp. 269-282
    • Chou, L.1    Garrels, R.M.2    Wallast, R.3
  • 21
    • 0022016390 scopus 로고
    • Pathological changes during the development of the vestibular sensory and ganglion cells of the Bronx waltzer mouse, scanning and transmission electron microscopy
    • DOI 10.1016/0165-3806(85)90272-X
    • Demêmes D, Sans A. (1985) Pathological changes during the development of the vestibular sensory and ganglion cells of the Bronx waltzer mouse. Scanning and transmission electron microscopy. Brain Res 350(1-2):285-295. (Pubitemid 15108954)
    • (1985) Developmental Brain Research , vol.18 , Issue.1-2 , pp. 285-295
    • Dememes, D.1    Sans, A.2
  • 22
    • 0000747819 scopus 로고
    • The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse
    • Deol MS. (1954) The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse. J Genet 52:562-588.
    • (1954) J Genet , vol.52 , pp. 562-588
    • Deol, M.S.1
  • 24
    • 69449092161 scopus 로고    scopus 로고
    • Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses
    • Dulon D, Safieddine S, Jones SM, Petit C. (2009) Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses. J Neurosci 29(34):10474-10487.
    • (2009) J Neurosci , vol.29 , Issue.34 , pp. 10474-10487
    • Dulon, D.1    Safieddine, S.2    Jones, S.M.3    Petit, C.4
  • 26
    • 0029014667 scopus 로고
    • Complementary roles of BDNF and NT-3 in vestibular and auditory development
    • Ernfors P, Van De Water T, Loring J, Jaenisch R. (1995) Complementary roles of BDNF and NT-3 in vestibular and auditory development. Neuron 14(6):1153-1164.
    • (1995) Neuron , vol.14 , Issue.6 , pp. 1153-1164
    • Ernfors, P.1    Van De Water, T.2    Loring, J.3    Jaenisch, R.4
  • 27
    • 0021751131 scopus 로고
    • Zinc metabolism in lethal-milk mice. Otolith, lactation and aging effects
    • Erway LC, Grider A, Jr. (1984) Zinc metabolism in lethal-milk mice. Otolith, lactation, and aging effects. J Hered 75(6):480-484. (Pubitemid 15186028)
    • (1984) Journal of Heredity , vol.75 , Issue.6 , pp. 480-484
    • Erway, L.C.1    Grider Jr., A.2
  • 30
    • 80052854166 scopus 로고    scopus 로고
    • Genetics of recurrent vertigo and vestibular disorders
    • Gazquez I, Lopez-Escamez JA. (2011) Genetics of recurrent vertigo and vestibular disorders. Curr Genomics 12(6):443-450.
    • (2011) Curr Genomics , vol.12 , Issue.6 , pp. 443-450
    • Gazquez, I.1    Lopez-Escamez, J.A.2
  • 31
    • 67650757671 scopus 로고    scopus 로고
    • Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation
    • Geng R, Geller SF, Hayashi T, et al. (2009) Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet 18(15):2748-2760.
    • (2009) Hum Mol Genet , vol.18 , Issue.15 , pp. 2748-2760
    • Geng, R.1    Geller, S.F.2    Hayashi, T.3
  • 32
    • 70349448090 scopus 로고    scopus 로고
    • Mechanotransduction by hair cells: Models, molecules, and mechanisms
    • Gillespie PG, Müller U. (2009) Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell 139(1):33-44.
    • (2009) Cell , vol.139 , Issue.1 , pp. 33-44
    • Gillespie, P.G.1    Müller, U.2
  • 33
    • 77957918022 scopus 로고    scopus 로고
    • Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells
    • Goodyear RJ, Forge A, Legan PK, Richardson GP. (2010) Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells. J Comp Neurol 518:(21):4288-4297.
    • (2010) J Comp Neurol , vol.518 , Issue.21 , pp. 4288-4297
    • Goodyear, R.J.1    Forge, A.2    Legan, P.K.3    Richardson, G.P.4
  • 34
    • 84857342097 scopus 로고    scopus 로고
    • Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ
    • Goodyear RJ, Jones SM, Sharifi L, Forge A, Richardson GP. (2012) Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ. J Neurosci 32(8):2762-2772.
    • (2012) J Neurosci , vol.32 , Issue.8 , pp. 2762-2772
    • Goodyear, R.J.1    Jones, S.M.2    Sharifi, L.3    Forge, A.4    Richardson, G.P.5
  • 36
    • 0037449185 scopus 로고    scopus 로고
    • The vestibulo ocular reflex (VOR) in otoconia deficient head tilt (het) mutant mice versus wild type C57BL/6 mice
    • DOI 10.1016/S0006-8993(03)02505-8
    • Harrod CG, Baker JF. (2003) The vestibulo ocular reflex (VOR) in otoconia deficient head tilt (het) mutant mice versus wild type C57BL/6 mice. Brain Res 972(1-2):75-83. (Pubitemid 36507079)
    • (2003) Brain Research , vol.972 , Issue.1-2 , pp. 75-83
    • Harrod, C.G.1    Baker, J.F.2
  • 37
  • 38
    • 33750685684 scopus 로고    scopus 로고
    • Afferent synapses are present in utricular hair cells from otoconia-deficient mice
    • DOI 10.1016/j.heares.2006.05.013, PII S0378595506002279
    • Hoffman LF, Ross MD, Varelas J, Jones SM, Jones TA. (2006) Afferent synapses are present in utricular hair cells from otoconia-deficient mice. Hear Res 222(1-2):35-42. (Pubitemid 44708551)
    • (2006) Hearing Research , vol.222 , Issue.1-2 , pp. 35-42
    • Hoffman, L.F.1    Ross, M.D.2    Varelas, J.3    Jones, S.M.4    Jones, T.A.5
  • 39
    • 84904500726 scopus 로고    scopus 로고
    • Spatial distribution of utricular hair cell morphologic polarization vectors: Role of natural stimuli
    • Hoffman LF, Siegerman C, Su D, Jones TA. (2007) Spatial distribution of utricular hair cell morphologic polarization vectors: role of natural stimuli. Assoc Res Otolaryngol Abs 30:1210.
    • (2007) Assoc Res Otolaryngol Abs , vol.30 , pp. 1210
    • Hoffman, L.F.1    Siegerman, C.2    Su, D.3    Jones, T.A.4
  • 40
    • 0030724951 scopus 로고    scopus 로고
    • A novel gene involved in zinc transport is deficient in the lethal milk mouse
    • DOI 10.1038/ng1197-292
    • Huang L, Gitschier J. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet 17(3):292-297. (Pubitemid 27475991)
    • (1997) Nature Genetics , vol.17 , Issue.3 , pp. 292-297
    • Huang, L.1    Gitschier, J.2
  • 41
    • 0032743997 scopus 로고    scopus 로고
    • The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
    • DOI 10.1038/15507
    • Huang L, Kuo YM, Gitschier J. (1999) The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet 23(3):329-332. (Pubitemid 29526432)
    • (1999) Nature Genetics , vol.23 , Issue.3 , pp. 329-332
    • Huang, L.1    Kuo, Y.-M.2    Gitschier, J.3
  • 43
    • 37849038231 scopus 로고    scopus 로고
    • Recent advances in the genetics of recurrent vertigo and vestibulopathy
    • Jen JC. (2008) Recent advances in the genetics of recurrent vertigo and vestibulopathy. Curr Opin Neurol 21(1):3-7.
    • (2008) Curr Opin Neurol , vol.21 , Issue.1 , pp. 3-7
    • Jen, J.C.1
  • 44
    • 79952397737 scopus 로고    scopus 로고
    • Genetics of vestibulopathies
    • Jen JC. (2011) Genetics of vestibulopathies. Adv Otorhinolaryngol 70:130-134.
    • (2011) Adv Otorhinolaryngol , vol.70 , pp. 130-134
    • Jen, J.C.1
  • 45
    • 41949099976 scopus 로고    scopus 로고
    • Vestibular sensory evoked potentials
    • Jacobson G, Gans R, Shepard N, eds. San Diego, CA: Plural Publishing
    • Jones SM. (2008) Vestibular sensory evoked potentials. In: Jacobson G, Gans R, Shepard N, eds. Balance Function Assessment and Management. San Diego, CA: Plural Publishing, 379-404.
    • (2008) Balance Function Assessment and Management , pp. 379-404
    • Jones, S.M.1
  • 46
    • 0032801068 scopus 로고    scopus 로고
    • Vestibular responses to linear acceleration are absent in otoconia-deficient C57BL/6JEi-het mice
    • DOI 10.1016/S0378-5955(99)00090-8, PII S0378595599000908
    • Jones SM, Erway LC, Bergstrom RA, Schimenti JC, Jones TA. (1999) Vestibular responses to linear acceleration are absent in otoconia-deficient C57BL/6JEi-het mice. Hear Res 135(1-2):56-60. (Pubitemid 29397458)
    • (1999) Hearing Research , vol.135 , Issue.1-2 , pp. 56-60
    • Jones, S.M.1    Erway, L.C.2    Bergstrom, R.A.3    Schimenti, J.C.4    Jones, T.A.5
  • 47
    • 1942517933 scopus 로고    scopus 로고
    • Gravity receptor function in mice with graded otoconial deficiencies
    • DOI 10.1016/j.heares.2004.01.008, PII S0378595504000413
    • Jones SM, Erway LC, Johnson KR, Yu H, Jones TA. (2004) Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. (Pubitemid 38510508)
    • (2004) Hearing Research , vol.191 , Issue.1-2 , pp. 34-40
    • Jones, S.M.1    Erway, L.C.2    Johnson, K.R.3    Yu, H.4    Jones, T.A.5
  • 48
    • 33644989936 scopus 로고    scopus 로고
    • A quantitative survey of gravity receptor function in mutant mouse strains
    • Jones SM, Johnson KR, Yu H, et al. (2005) A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310.
    • (2005) J Assoc Res Otolaryngol , vol.6 , Issue.4 , pp. 297-310
    • Jones, S.M.1    Johnson, K.R.2    Yu, H.3
  • 50
    • 0026582781 scopus 로고
    • Vestibular short latency responses to pulsed linear acceleration in unanesthetized animals
    • Jones TA. (1992) Vestibular short latency responses to pulsed linear acceleration in unanesthetized animals. Electroencephalogr Clin Neurophysiol 82(5):377-386.
    • (1992) Electroencephalogr Clin Neurophysiol , vol.82 , Issue.5 , pp. 377-386
    • Jones, T.A.1
  • 51
    • 0032822530 scopus 로고    scopus 로고
    • Short latency compound action potentials from mammalian gravity receptor organs
    • DOI 10.1016/S0378-5955(99)00110-0, PII S0378595599001100
    • Jones TA, Jones SM. (1999) Short latency compound action potentials from mammalian gravity receptor organs. Hear Res 136(1-2):75-85. (Pubitemid 29450499)
    • (1999) Hearing Research , vol.136 , Issue.1-2 , pp. 75-85
    • Jones, T.A.1    Jones, S.M.2
  • 52
    • 41949092452 scopus 로고    scopus 로고
    • Vestibular evoked potentials
    • Burkard RF, Don M, Eggermont JJ, eds. Baltimore, MD: Lippincott Williams and Wilkins
    • Jones TA, Jones SM. (2007) Vestibular evoked potentials. In: Burkard RF, Don M, Eggermont JJ, eds. Auditory Evoked Potentials: Basic Principles and Clinical Applications. Baltimore, MD: Lippincott Williams and Wilkins, 622-650.
    • (2007) Auditory Evoked Potentials: Basic Principles and Clinical Applications , pp. 622-650
    • Jones, T.A.1    Jones, S.M.2
  • 53
    • 55949102893 scopus 로고    scopus 로고
    • Resting discharge patterns of macular primary afferents in otoconia-deficient mice
    • Jones TA, Jones SM, Hoffman LF. (2008) Resting discharge patterns of macular primary afferents in otoconia-deficient mice. J Assoc Res Otolaryngol 9(4):490-505.
    • (2008) J Assoc Res Otolaryngol , vol.9 , Issue.4 , pp. 490-505
    • Jones, T.A.1    Jones, S.M.2    Hoffman, L.F.3
  • 55
    • 0032798796 scopus 로고    scopus 로고
    • Vestibular compensation in infants and children with congenital and acquired vestibular loss in both ears
    • Kaga K. (1999) Vestibular compensation in infants and children with congenital and acquired vestibular loss in both ears. Int J Pediatr Otorhinolaryngol 49(3):215-224.
    • (1999) Int J Pediatr Otorhinolaryngol , vol.49 , Issue.3 , pp. 215-224
    • Kaga, K.1
  • 56
    • 0035991533 scopus 로고    scopus 로고
    • Genes and syndromic hearing loss
    • Keats BJ. (2002) Genes and syndromic hearing loss. J Commun Disord 35(4):355-366.
    • (2002) J Commun Disord , vol.35 , Issue.4 , pp. 355-366
    • Keats, B.J.1
  • 59
    • 33846369505 scopus 로고    scopus 로고
    • Inheritance of Méniere's disease in the Finnish population
    • DOI 10.1001/archotol.133.1.73
    • Klockars T, Kentala E. (2007) Inheritance of Meniere's disease in the Finnish population. Arch Otolaryngol Head Neck Surg 133(1):73-77. (Pubitemid 46129513)
    • (2007) Archives of Otolaryngology - Head and Neck Surgery , vol.133 , Issue.1 , pp. 73-77
    • Klockars, T.1    Kentala, E.2
  • 61
    • 0030670840 scopus 로고    scopus 로고
    • Absence of sensory neurons before target innervation in brain-derived neurotrophic factor-, neurotrophin 3-, and TrkC-deficient embryonic mice
    • Liebl DJ, Tessarollo L, Palko ME, Parada LF. (1997) Absence of sensory neurons before target innervation in brain-derived neurotrophic factor-, neurotrophin 3-, and TrkC-deficient embryonic mice. J Neurosci 17(23):9113-9121. (Pubitemid 27498439)
    • (1997) Journal of Neuroscience , vol.17 , Issue.23 , pp. 9113-9121
    • Liebl, D.J.1    Tessarollo, L.2    Palko, M.E.3    Parada, L.F.4
  • 62
    • 70350357319 scopus 로고    scopus 로고
    • Slc4a11 gene disruption in mice: Cellular targets of sensorineuronal abnormalities
    • Lopez IA, Rosenblatt MI, Kim C, et al. (2009) Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities. J Biol Chem 284(39):26882-26896.
    • (2009) J Biol Chem , vol.284 , Issue.39 , pp. 26882-26896
    • Lopez, I.A.1    Rosenblatt, M.I.2    Kim, C.3
  • 63
    • 0001345615 scopus 로고
    • Shaker, a new mutation in the house mouse (mus musculus)
    • Lord EM, Gates WH. (1929) Shaker, a new mutation in the house mouse (mus musculus). Am Nat 63:435-442.
    • (1929) Am Nat , vol.63 , pp. 435-442
    • Lord, E.M.1    Gates, W.H.2
  • 64
    • 0001077455 scopus 로고
    • Absence of otoliths in the mouse: An effect of the pallid mutant
    • Lyon MF. (1953) Absence of otoliths in the mouse: an effect of the pallid mutant. J Genet 51:638-650.
    • (1953) J Genet , vol.51 , pp. 638-650
    • Lyon, M.F.1
  • 65
    • 0014587272 scopus 로고
    • Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV
    • Lyon MF, Meredith R. (1969) Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. Genet Res 14(2):163-166.
    • (1969) Genet Res , vol.14 , Issue.2 , pp. 163-166
    • Lyon, M.F.1    Meredith, R.2
  • 67
    • 0034446983 scopus 로고    scopus 로고
    • Neurogenin 1 null mutant ears develop fewer, morphologically normal hair cells in smaller sensory epithelia devoid of innervation
    • Ma Q, Anderson DJ, Fritzsch B. (2000) Neurogenin 1 null mutant ears develop fewer, morphologically normal hair cells in smaller sensory epithelia devoid of innervation. J Assoc Res Otolaryngol 1(2):129-143. (Pubitemid 32405383)
    • (2000) JARO - Journal of the Association for Research in Otolaryngology , vol.1 , Issue.2 , pp. 129-143
    • Ma, Q.1    Anderson, D.J.2    Fritzsch, B.3
  • 68
    • 0031046075 scopus 로고    scopus 로고
    • Degenerative hairlets on the vestibular sensory cells in mutant bustling (BUS/Idr) mice
    • Moriyama K, Hashimoto R, Hanai A, Yoshizaki N, Yonezawa S, Otani H. (1997) Degenerative hairlets on the vestibular sensory cells in mutant bustling (BUS/Idr) mice. Acta Otolaryngol 117:(1):20-24. (Pubitemid 27077000)
    • (1997) Acta Oto-Laryngologica , vol.117 , Issue.1 , pp. 20-24
    • Moriyama, K.1    Hashimoto, R.2    Hanai, A.3    Yoshizaki, N.4    Yonezawa, S.5    Otani, H.6
  • 69
    • 0035914234 scopus 로고    scopus 로고
    • Histopathology and molecular genetics of hearing loss in the human
    • Nadol JB, Jr, Merchant SN. (2001) Histopathology and molecular genetics of hearing loss in the human. Int J Pediatr Otorhinolaryngol 61(1):1-15.
    • (2001) Int J Pediatr Otorhinolaryngol , vol.61 , Issue.1 , pp. 1-15
    • Nadol Jr., J.B.1    Merchant, S.N.2
  • 75
    • 0032146930 scopus 로고    scopus 로고
    • Otoconial agenesis in tilted mutant mice
    • DOI 10.1016/S0378-5955(98)00080-X, PII S037859559800080X
    • Ornitz DM, Bohne BA, Thalmann I, Harding GW, Thalmann R. (1998) Otoconial agenesis in tilted mutant mice. Hear Res 122:(1-2):60-70. (Pubitemid 28352715)
    • (1998) Hearing Research , vol.122 , Issue.1-2 , pp. 60-70
    • Ornitz, D.M.1    Bohne, B.A.2    Thalmann, I.3    Harding, G.W.4    Thalmann, R.5
  • 76
    • 0028987828 scopus 로고
    • Vestibulocochlear defects and effects of deuterium oxide in mutant bustling (BUS) mice
    • Otani H, Moriyama K, Yonezawa S, Shoji R, Tanaka O. (1995) Vestibulocochlear defects and effects of deuterium oxide in mutant bustling (BUS) mice. Acta Otolaryngol Suppl 519:286-293.
    • (1995) Acta Otolaryngol Suppl , vol.519 , pp. 286-293
    • Otani, H.1    Moriyama, K.2    Yonezawa, S.3    Shoji, R.4    Tanaka, O.5
  • 78
    • 8644251840 scopus 로고    scopus 로고
    • +-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation
    • DOI 10.1016/j.molcel.2004.09.030, PII S1097276504005829
    • Park M, Li Q, Shcheynikov N, Zeng W, Muallem S. (2004) NaBC1 is a ubiquitous electrogenic Na+-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation. Mol Cell 16(3):331-341. (Pubitemid 39504788)
    • (2004) Molecular Cell , vol.16 , Issue.3 , pp. 331-341
    • Park, M.1    Li, Q.2    Shcheynikov, N.3    Zeng, W.4    Muallem, S.5
  • 79
    • 0036665186 scopus 로고    scopus 로고
    • Non-syndromic autosomal-dominant deafness
    • Petersen MB. (2002) Non-syndromic autosomal-dominant deafness. Clin Genet 62(1):1-13.
    • (2002) Clin Genet , vol.62 , Issue.1 , pp. 1-13
    • Petersen, M.B.1
  • 80
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C. (2001) Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2:271-297.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 271-297
    • Petit, C.1
  • 82
    • 84904474055 scopus 로고    scopus 로고
    • PhD diss., Department of Communication Sciences and Disorders, East Carolina University
    • Pierce J. (2012) Structural aging of the utricular macula in mice. PhD diss., Department of Communication Sciences and Disorders, East Carolina University.
    • (2012) Structural Aging of the Utricular Macula in Mice
    • Pierce, J.1
  • 83
    • 0018524160 scopus 로고
    • The additive effects of two mutant genes on otolith formation in mice: An animal model to assess otolith function
    • Rauch TM. (1979) The additive effects of two mutant genes on otolith formation in mice: an animal model to assess otolith function. J Aud Res 19(4):259-265.
    • (1979) J Aud Res , vol.19 , Issue.4 , pp. 259-265
    • Rauch, T.M.1
  • 84
    • 0034200640 scopus 로고    scopus 로고
    • Evidence of progressive delay of motor development in children with sensorineural hearing loss and concurrent vestibular dysfunction
    • Rine RM, Cornwall G, Gan K, et al. (2000) Evidence of progressive delay of motor development in children with sensorineural hearing loss and concurrent vestibular dysfunction. Percept Mot Skills 90(3, Pt. 2):1101-1112.
    • (2000) Percept Mot Skills , vol.90 , Issue.3 PART 2 , pp. 1101-1112
    • Rine, R.M.1    Cornwall, G.2    Gan, K.3
  • 85
    • 54449085297 scopus 로고    scopus 로고
    • A targeted Coch missense mutation: A knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction
    • Robertson NG, Jones SM, Sivakumaran TA, et al. (2008) A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet 17(21):3426-3434.
    • (2008) Hum Mol Genet , vol.17 , Issue.21 , pp. 3426-3434
    • Robertson, N.G.1    Jones, S.M.2    Sivakumaran, T.A.3
  • 87
    • 0026410388 scopus 로고
    • The history of the genetics of hearing impairment
    • Ruben RJ. (1991) The history of the genetics of hearing impairment. Ann N Y Acad Sci 630:6-15.
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 6-15
    • Ruben, R.J.1
  • 88
    • 77950461113 scopus 로고    scopus 로고
    • Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction
    • Schraders M, Oostrik J, Huygen PL, et al. (2010) Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 86(4):604-610.
    • (2010) Am J Hum Genet , vol.86 , Issue.4 , pp. 604-610
    • Schraders, M.1    Oostrik, J.2    Huygen, P.L.3
  • 91
    • 77956099474 scopus 로고    scopus 로고
    • Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84
    • Shahin H, Rahil M, Abu Rayan A, et al. (2010) Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet 47(9):643-645.
    • (2010) J Med Genet , vol.47 , Issue.9 , pp. 643-645
    • Shahin, H.1    Rahil, M.2    Abu Rayan, A.3
  • 92
    • 34250677624 scopus 로고    scopus 로고
    • Assessment of vestibular function of infants and children with congenital and acquired deafness using the ice-water caloric test, rotational chair test and vestibular-evoked myogenic potential recording
    • DOI 10.1080/00016480601002039, PII 779591130
    • Shinjo Y, Jin Y, Kaga K. (2007) Assessment of vestibular function of infants and children with congenital and acquired deafness using the ice-water caloric test, rotational chair test and vestibular-evoked myogenic potential recording. Acta Otolaryngol 127(7):736-747. (Pubitemid 46934131)
    • (2007) Acta Oto-Laryngologica , vol.127 , Issue.7 , pp. 736-747
    • Shinjo, Y.1    Jin, Y.2    Kaga, K.3
  • 93
    • 0025139283 scopus 로고
    • Morphologically specific vestibular hair cell degeneration in the jerker mouse mutant
    • Sjöström B, Anniko M. (1990) Morphologically specific vestibular hair cell degeneration in the jerker mouse mutant. Eur Arch Otorhinolaryngol 247(1):51-55. (Pubitemid 20071580)
    • (1990) European Archives of Oto-Rhino-Laryngology , vol.247 , Issue.1 , pp. 51-55
    • Sjostrom, B.1    Anniko, M.2
  • 94
    • 33646008000 scopus 로고    scopus 로고
    • Eye movements of the murine P/Q calcium channel mutant tottering, and the impact of aging
    • Stahl JS, James RA, Oommen BS, Hoebeek FE, De Zeeuw CI. (2006) Eye movements of the murine P/Q calcium channel mutant tottering, and the impact of aging. J Neurophysiol 95(3):1588-1607.
    • (2006) J Neurophysiol , vol.95 , Issue.3 , pp. 1588-1607
    • Stahl, J.S.1    James, R.A.2    Oommen, B.S.3    Hoebeek, F.E.4    De Zeeuw, C.I.5
  • 95
    • 0034733477 scopus 로고    scopus 로고
    • A comparison of video and magnetic search coil recordings of mouse eye movements
    • DOI 10.1016/S0165-0270(00)00218-1, PII S0165027000002181
    • Stahl JS, van Alphen AM, De Zeeuw CI. (2000) A comparison of video and magnetic search coil recordings of mouse eye movements. J Neurosci Methods 99(1-2):101-110. (Pubitemid 30628800)
    • (2000) Journal of Neuroscience Methods , vol.99 , Issue.1-2 , pp. 101-110
    • Stahl, J.S.1    Van Alphen, A.M.2    De Zeeuw, C.I.3
  • 96
    • 0026410440 scopus 로고
    • Similarities between mice and humans with hereditary deafness
    • Steel KP. (1991) Similarities between mice and humans with hereditary deafness. Ann N Y Acad Sci 630:68-79.
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 68-79
    • Steel, K.P.1
  • 97
    • 0029562474 scopus 로고
    • Inherited hearing defects in mice
    • Steel KP. (1995) Inherited hearing defects in mice. Annu Rev Genet 29:675-701. (Pubitemid 26005356)
    • (1995) Annual Review of Genetics , vol.29 , pp. 675-701
    • Steel, K.P.1
  • 98
    • 0028003969 scopus 로고
    • Genes and deafness
    • DOI 10.1016/0168-9525(94)90113-9
    • Steel KP, Brown SD. (1994) Genes and deafness. Trends Genet 10:(12):428-435. (Pubitemid 24352649)
    • (1994) Trends in Genetics , vol.10 , Issue.12 , pp. 428-435
    • Steel, K.P.1    Brown, S.D.M.2
  • 102
    • 0842308901 scopus 로고    scopus 로고
    • Function of Semicircular Canals, Utricles and Saccules in Deaf Children
    • DOI 10.1080/00016480310002113
    • Tribukait A, Brantberg K, Bergenius J. (2004) Function of semicircular canals, utricles and saccules in deaf children. Acta Otolaryngol 124(1):41-48. (Pubitemid 38177850)
    • (2004) Acta Oto-Laryngologica , vol.124 , Issue.1 , pp. 41-48
    • Tribukait, A.1    Brantberg, K.2    Bergenius, J.3
  • 104
    • 0026506446 scopus 로고
    • Delayed motor function and results of vestibular function tests in children with inner ear anomalies
    • Tsuzuku T, Kaga K. (1992) Delayed motor function and results of vestibular function tests in children with inner ear anomalies. Int J Pediatr Otorhinolaryngol 23(3):261-268.
    • (1992) Int J Pediatr Otorhinolaryngol , vol.23 , Issue.3 , pp. 261-268
    • Tsuzuku, T.1    Kaga, K.2
  • 106
    • 0035793426 scopus 로고    scopus 로고
    • The dynamic characteristics of the mouse horizontal vestibulo-ocular and optokinetic response
    • DOI 10.1016/S0006-8993(00)03180-2, PII S0006899300031802
    • van Alphen AM, Stahl JS, De Zeeuw CI. (2001) The dynamic characteristics of the mouse horizontal vestibulo-ocular and optokinetic response. Brain Res 890(2):296-305. (Pubitemid 32115482)
    • (2001) Brain Research , vol.890 , Issue.2 , pp. 296-305
    • Van Alphen, A.M.1    Stahl, J.S.2    De Zeeuw, C.I.3
  • 107
    • 79955420225 scopus 로고    scopus 로고
    • Regulation of PCDH15 function inmechanosensory hair cells by alternative splicing of the cytoplasmic domain
    • Webb SW, Grillet N, Andrade LR, et al. (2011) Regulation of PCDH15 function inmechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development 138(8):1607-1617.
    • (2011) Development , vol.138 , Issue.8 , pp. 1607-1617
    • Webb, S.W.1    Grillet, N.2    Andrade, L.R.3
  • 108
    • 0024503680 scopus 로고
    • Vestibular hair cell pathology in the dancer mouse mutant
    • Wenngren BI, Anniko M. (1989) Vestibular hair cell pathology in the dancer mouse mutant. Acta Otolaryngol 107(3-4):182-190.
    • (1989) Acta Otolaryngol , vol.107 , Issue.3-4 , pp. 182-190
    • Wenngren, B.I.1    Anniko, M.2
  • 110
    • 84881154660 scopus 로고
    • The Dancing Mouse: A Study in Animal Behavior
    • New York: Macmillan
    • Yerkes RM. (1907) The Dancing Mouse: A Study in Animal Behavior. The Animal Behavior Series, vol. 1. New York: Macmillan.
    • (1907) The Animal Behavior Series , vol.1
    • Yerkes, R.M.1
  • 111
    • 70349916044 scopus 로고    scopus 로고
    • Potassium ion movement in the inner ear: Insights from genetic disease and mouse models
    • Zdebik AA, Wangemann P, Jentsch TJ. (2009) Potassium ion movement in the inner ear: insights from genetic disease and mouse models. Physiology (Bethesda) 24:307-316.
    • (2009) Physiology (Bethesda) , vol.24 , pp. 307-316
    • Zdebik, A.A.1    Wangemann, P.2    Jentsch, T.J.3
  • 112
    • 41949116366 scopus 로고    scopus 로고
    • Otoconin-90 deletion leads to imbalance but normal hearing: A comparison with other otoconia mutants
    • Zhao X, Jones SM, Yamoah EN, Lundberg YW. (2008) Otoconin-90 deletion leads to imbalance but normal hearing: a comparison with other otoconia mutants. Neuroscience 153(1):289-299.
    • (2008) Neuroscience , vol.153 , Issue.1 , pp. 289-299
    • Zhao, X.1    Jones, S.M.2    Yamoah, E.N.3    Lundberg, Y.W.4
  • 113
    • 34047126302 scopus 로고    scopus 로고
    • Gene targeting reveals the role of Oc90 as the essential organizer of the otoconial organic matrix
    • DOI 10.1016/j.ydbio.2007.01.013, PII S0012160607000309
    • Zhao X, Yang H, Yamoah EN, Lundberg YW. (2007) Gene targeting reveals the role of Oc90 as the essential organizer of the otoconial organic matrix. Dev Biol 304(2):508-524. (Pubitemid 46527568)
    • (2007) Developmental Biology , vol.304 , Issue.2 , pp. 508-524
    • Zhao, X.1    Yang, H.2    Yamoah, E.N.3    Lundberg, Y.W.4
  • 114
    • 58849119917 scopus 로고    scopus 로고
    • Assessment of saccular function in children with sensorineural hearing loss
    • Zhou G, Kenna MA, Stevens K, Licameli G. (2009) Assessment of saccular function in children with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 135(1):40-44.
    • (2009) Arch Otolaryngol Head Neck Surg , vol.135 , Issue.1 , pp. 40-44
    • Zhou, G.1    Kenna, M.A.2    Stevens, K.3    Licameli, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.