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Volumn 40, Issue 5, 2003, Pages 360-363

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TECTORIN; GENE PRODUCT; UNCLASSIFIED DRUG;

EID: 0038238367     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.5.360     Document Type: Article
Times cited : (52)

References (18)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991;630:16-31.
    • (1991) Ann NY Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 0038723360 scopus 로고    scopus 로고
    • Autosomal and X-linked auditory disorders
    • Keat JBB, Popper AN, Fay RR, eds. New York: Springer-Verlag
    • Griffith AJ, Friedman TB. Autosomal and X-linked auditory disorders. In: Keat JBB, Popper AN, Fay RR, eds. Genetics and auditory disorders. New York: Springer-Verlag 2002:121-227.
    • (2002) Genetics and Auditory Disorders , pp. 121-227
    • Griffith, A.J.1    Friedman, T.B.2
  • 5
    • 0035350929 scopus 로고    scopus 로고
    • A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
    • Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernandez-Calvin FJ, Herraiz C, Barbera R, Navas C, Moreno F. A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet 2001;38:e13.
    • (2001) J Med Genet , vol.38
    • Moreno-Pelayo, M.A.1    Del Castillo, I.2    Villamar, M.3    Romero, L.4    Hernandez-Calvin, F.J.5    Herraiz, C.6    Barbera, R.7    Navas, C.8    Moreno, F.9
  • 8
    • 0032977996 scopus 로고    scopus 로고
    • An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
    • Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999;8:409-12.
    • (1999) Hum Mol Genet , vol.8 , pp. 409-412
    • Mustapha, M.1    Weil, D.2    Chardenoux, S.3    Elias, S.4    El-Zir, E.5    Beckmann, J.S.6    Loiselet, J.7    Petit, C.8
  • 10
    • 0030889074 scopus 로고    scopus 로고
    • The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system
    • Legan PK, Rau A, Keen JN, Richardson GP. The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J Biol Chem 1997;272:8791-801.
    • (1997) J Biol Chem , vol.272 , pp. 8791-8801
    • Legan, P.K.1    Rau, A.2    Keen, J.N.3    Richardson, G.P.4
  • 11
    • 0031708805 scopus 로고    scopus 로고
    • Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: Localization of the gene (DFNA8) to chromosome 11 q by linkage in an Austrian family
    • Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ. Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11 q by linkage in an Austrian family. Cytogenet Cell Genet 1998;82:126-30.
    • (1998) Cytogenet Cell Genet , vol.82 , pp. 126-130
    • Kirschhofer, K.1    Kenyon, J.B.2    Hoover, D.M.3    Franz, P.4    Weipoltshammer, K.5    Wachtler, F.6    Kimberling, W.J.7
  • 13
    • 0034704201 scopus 로고    scopus 로고
    • Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
    • Lykke-Andersen J, Shu MD, Steitz JA. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 2000;103:1121-31.
    • (2000) Cell , vol.103 , pp. 1121-1131
    • Lykke-Andersen, J.1    Shu, M.D.2    Steitz, J.A.3
  • 14
    • 0035498978 scopus 로고    scopus 로고
    • Curbing the nonsense: The activation and regulation of mRNA surveillance
    • Wilusz CJ, Wang W, Peltz SW. Curbing the nonsense: the activation and regulation of mRNA surveillance. Genes Dev 2001;15:2781-85.
    • (2001) Genes Dev , vol.15 , pp. 2781-2785
    • Wilusz, C.J.1    Wang, W.2    Peltz, S.W.3
  • 16
    • 0033637206 scopus 로고    scopus 로고
    • A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback
    • Legan PK, Lukashkina VA, Goodyear RJ, Kossi M, Russell IJ, Richardson GP. A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 2000;28:273-85.
    • (2000) Neuron , vol.28 , pp. 273-285
    • Legan, P.K.1    Lukashkina, V.A.2    Goodyear, R.J.3    Kossi, M.4    Russell, I.J.5    Richardson, G.P.6
  • 17
    • 0036307181 scopus 로고    scopus 로고
    • The ZP domain is a conserved module for polymerization of extracellular proteins
    • Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM. The ZP domain is a conserved module for polymerization of extracellular proteins. Nat Cell Biol 2002;4:457-61.
    • (2002) Nat Cell Biol , vol.4 , pp. 457-461
    • Jovine, L.1    Qi, H.2    Williams, Z.3    Litscher, E.4    Wassarman, P.M.5
  • 18
    • 0034701244 scopus 로고    scopus 로고
    • Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms
    • Lux A, Gallione CJ, Marchuk DA. Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. Hum Mol Genet 2000;9:745-55.
    • (2000) Hum Mol Genet , vol.9 , pp. 745-755
    • Lux, A.1    Gallione, C.J.2    Marchuk, D.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.