메뉴 건너뛰기




Volumn 14, Issue 4, 2010, Pages 543-550

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONSANGUINITY; DFNB3 GENE; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOTYPE; HEARING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MYO15A GENE; PERCEPTION DEAFNESS; PHENOTYPE; TURKEY (REPUBLIC); ZYGOSITY;

EID: 77955855341     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0039     Document Type: Article
Times cited : (45)

References (33)
  • 1
    • 0034842930 scopus 로고    scopus 로고
    • GRR: Graphical representation of relationship errors
    • Abecasis GR, Cherny SS, Cookson WO, et al. (2001) GRR: graphical representation of relationship errors. Bioinformatics 17:742-743.
    • (2001) Bioinformatics , vol.17 , pp. 742-743
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3
  • 2
    • 0033852245 scopus 로고    scopus 로고
    • The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
    • Anderson DW, Probst FJ, Belyantseva IA, et al. (2000) The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet 22:1729-1738.
    • (2000) Hum Mol Genet , vol.22 , pp. 1729-1738
    • Anderson, D.W.1    Probst, F.J.2    Belyantseva, I.A.3
  • 3
    • 32144432437 scopus 로고    scopus 로고
    • The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
    • Arnold K, Bordoli L, Kopp J, et al. (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195-201.
    • (2006) Bioinformatics , vol.22 , pp. 195-201
    • Arnold, K.1    Bordoli, L.2    Kopp, J.3
  • 4
    • 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 11:369-375.
    • (1995) Nat Genet , vol.11 , pp. 369-375
    • Avraham, K.B.1    Hasson, T.2    Steel, K.P.3
  • 5
    • 67049160269 scopus 로고    scopus 로고
    • Screening of the DFNB3 locus: Identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus
    • Belguith H, Aifa-Hmani M, Dhouib H, et al. (2009) Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. Genet Test Mol Biomarkers 13:147-151.
    • (2009) Genet Test Mol Biomarkers , vol.13 , pp. 147-151
    • Belguith, H.1    Aifa-Hmani, M.2    Dhouib, H.3
  • 6
    • 0345133276 scopus 로고    scopus 로고
    • Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle
    • 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 25:13958-13963.
    • (2003) Proc Natl Acad Sci USA , vol.25 , pp. 13958-13963
    • Belyantseva, I.A.1    Boger, E.T.2    Friedman, T.B.3
  • 7
    • 13944260197 scopus 로고    scopus 로고
    • Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    • Belyantseva IA, Boger ET, Naz S, et al. (2005) Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol 7:148-156.
    • (2005) Nat Cell Biol , vol.7 , pp. 148-156
    • Belyantseva, I.A.1    Boger, E.T.2    Naz, S.3
  • 9
    • 0033757806 scopus 로고    scopus 로고
    • The Protein Data Bank and the challenge of structural genomics
    • Berman HM, Bhat TN, Bourne PE, et al. (2000) The Protein Data Bank and the challenge of structural genomics. Nat Struct Biol 7:957-959.
    • (2000) Nat Struct Biol , vol.7 , pp. 957-959
    • Berman, H.M.1    Bhat, T.N.2    Bourne, P.E.3
  • 10
    • 0028836920 scopus 로고
    • A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome
    • Friedman TB, Liang Y, Weber JL, et al. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome. Nat Genet 9:86-91.
    • (1995) Nat Genet , vol.9 , pp. 86-91
    • Friedman, T.B.1    Liang, Y.2    Weber, J.L.3
  • 11
    • 0033600948 scopus 로고    scopus 로고
    • Unconventional myosins and the genetics of hearing loss
    • Friedman TB, Sellers JR, Avraham KB (1999) Unconventional myosins and the genetics of hearing loss. Am J Med Genet 89:147-157.
    • (1999) Am J Med Genet , vol.89 , pp. 147-157
    • Friedman, T.B.1    Sellers, J.R.2    Avraham, K.B.3
  • 12
    • 0034614554 scopus 로고    scopus 로고
    • X-ray structures of the Dictyostelium discoideum myosin motor domain with six non-nucleotide analogs
    • Gulick AM, Bauer CB, Thoden JB, et al. (2000) X-ray structures of the Dictyostelium discoideum myosin motor domain with six non-nucleotide analogs. J Biol Chem 275:398-408.
    • (2000) J Biol Chem , vol.275 , pp. 398-408
    • Gulick, A.M.1    Bauer, C.B.2    Thoden, J.B.3
  • 13
    • 34848929025 scopus 로고    scopus 로고
    • MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    • Kalay E, Uzumcu A, Krieger E, et al. (2007) MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A 15:2382-2389.
    • (2007) Am J Med Genet A , vol.15 , pp. 2382-2389
    • Kalay, E.1    Uzumcu, A.2    Krieger, E.3
  • 14
    • 58149193233 scopus 로고    scopus 로고
    • The SWISS-MODEL Repository and associated resources
    • Kiefer F, Arnold K, Kü nzli M, et al. (2009) The SWISS-MODEL Repository and associated resources. Nucleic Acids Res 37:387-392.
    • (2009) Nucleic Acids Res , vol.37 , pp. 387-392
    • Kiefer, F.1    Arnold, K.2    Kü Nzli, M.3
  • 15
    • 24044500344 scopus 로고    scopus 로고
    • Myosins: Tails (and heads) of functional diversity
    • Krendel M, Mooseker MS (2005) Myosins: tails (and heads) of functional diversity. Physiology 20:239-251.
    • (2005) Physiology , vol.20 , pp. 239-251
    • Krendel, M.1    Mooseker, M.S.2
  • 16
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, et al. (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3
  • 17
    • 0347764736 scopus 로고    scopus 로고
    • Estimation of the optimal electrophoretic temperature of DNA single-strand conformation polymorphism by DNA base composition
    • Li W, Gao F, Liang J, et al. (2003) Estimation of the optimal electrophoretic temperature of DNA single-strand conformation polymorphism by DNA base composition. Electrophoresis 24:2283-2289.
    • (2003) Electrophoresis , vol.24 , pp. 2283-2289
    • Li, W.1    Gao, F.2    Liang, J.3
  • 18
    • 0032729835 scopus 로고    scopus 로고
    • Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
    • Liang Y, Wang A, Belyantseva IA, et al. (1999) Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Genomics 61:243-258.
    • (1999) Genomics , vol.61 , pp. 243-258
    • Liang, Y.1    Wang, A.2    Belyantseva, I.A.3
  • 19
    • 0032559349 scopus 로고    scopus 로고
    • Unconventional myosins in cell movement, membrane traffic, and signal transduction
    • Mermall V, Post PL, Mooseker MS (1998) Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279:527-533.
    • (1998) Science , vol.279 , pp. 527-533
    • Mermall, V.1    Post, P.L.2    Mooseker, M.S.3
  • 20
    • 0031714858 scopus 로고    scopus 로고
    • JOY: Protein sequence-structure representation and analysis
    • Mizuguchi K, Deane CM, Blundell TL, et al. (1998) JOY: protein sequence-structure representation and analysis. Bioinformatics 14:617-623.
    • (1998) Bioinformatics , vol.14 , pp. 617-623
    • Mizuguchi, K.1    Deane, C.M.2    Blundell, T.L.3
  • 21
    • 34948880109 scopus 로고    scopus 로고
    • Mutational spectrum of MYO15A: The large N-terminal extension of myosin XVA is required for hearing
    • Nal N, Ahmed ZM, Erkal E, et al. (2007) Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat 28:1014-1019.
    • (2007) Hum Mutat , vol.28 , pp. 1014-1019
    • Nal, N.1    Ahmed, Z.M.2    Erkal, E.3
  • 23
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 24
    • 0029004590 scopus 로고
    • Protein modeling by E-mail
    • Peitsch MC (1995) Protein modeling by E-mail. Biotechnology 13:658-660.
    • (1995) Biotechnology , vol.13 , pp. 658-660
    • Peitsch, M.C.1
  • 25
    • 17644442703 scopus 로고    scopus 로고
    • Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
    • Probst FJ, Fridell R, Raphael Y, et al. (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1444-1447.
    • (1998) Science , vol.280 , pp. 1444-1447
    • Probst, F.J.1    Fridell, R.2    Raphael, Y.3
  • 26
    • 0034677906 scopus 로고    scopus 로고
    • Myosins: A diverse superfamily
    • Sellers JR (2000) Myosins: a diverse superfamily. Biochim Biophys Acta 1496:3-22.
    • (2000) Biochim Biophys Acta , vol.1496 , pp. 3-22
    • Sellers, J.R.1
  • 27
    • 77949655513 scopus 로고    scopus 로고
    • Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
    • Shahin H, Walsh T, Rayyan AA, et al. (2010) Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet 18: 407-413.
    • (2010) Eur J Hum Genet , vol.18 , pp. 407-413
    • Shahin, H.1    Walsh, T.2    Rayyan, A.A.3
  • 28
    • 65249156445 scopus 로고    scopus 로고
    • Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
    • Shearer AE, Hildebrand MS, Webster JA, et al. (2009) Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope 119:727-733.
    • (2009) Laryngoscope , vol.119 , pp. 727-733
    • Shearer, A.E.1    Hildebrand, M.S.2    Webster, J.A.3
  • 29
    • 34447283537 scopus 로고    scopus 로고
    • Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification
    • Tekin M, Arici ZS (2007) Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am J Med Genet A 15:1583-1591.
    • (2007) Am J Med Genet A , vol.15 , pp. 1583-1591
    • Tekin, M.1    Arici, Z.S.2
  • 30
    • 0023955009 scopus 로고
    • Analysis, design and modification of loop regions in proteins
    • Thornton JM, Sibanda BL, Edwards MS, et al. (1988) Analysis, design and modification of loop regions in proteins. Bioessays 8:63-69.
    • (1988) Bioessays , vol.8 , pp. 63-69
    • Thornton, J.M.1    Sibanda, B.L.2    Edwards, M.S.3
  • 31
    • 0035191038 scopus 로고    scopus 로고
    • Clinical outcomes of consanguineous marriages in Turkey
    • Tuncbilek E (2001) Clinical outcomes of consanguineous marriages in Turkey. Turk J Pediatr 43:277-279.
    • (2001) Turk J Pediatr , vol.43 , pp. 277-279
    • Tuncbilek, E.1
  • 32
    • 0032577293 scopus 로고    scopus 로고
    • Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    • Wang A, Liang Y, Fridell RA, et al. (1998) Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 29:1447-1451.
    • (1998) Science , vol.29 , pp. 1447-1451
    • Wang, A.1    Liang, Y.2    Fridell, R.A.3
  • 33
    • 33947622530 scopus 로고    scopus 로고
    • Improvement of the sensitivity and resolution of PCR-SSCP analysis with optimized primer concentrations in PCR products
    • Zhu X, Niu N, Liu Y, et al. (2006) Improvement of the sensitivity and resolution of PCR-SSCP analysis with optimized primer concentrations in PCR products. J Genet 85:233-235.
    • (2006) J Genet , vol.85 , pp. 233-235
    • Zhu, X.1    Niu, N.2    Liu, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.