메뉴 건너뛰기




Volumn 10, Issue 8, 2015, Pages

Identification of a novel MYO15A mutation in a Chinese family with autosomal recessive nonsyndromic hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; EXOME; FAMILY STUDY; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MYO15A GENE; PERCEPTION DEAFNESS; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOCILIUM; CASE CONTROL STUDY; COMPARATIVE STUDY; FEMALE; GENETICS; HOMOZYGOTE; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

EID: 84943266846     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0136306     Document Type: Article
Times cited : (34)

References (52)
  • 2
    • 84860491233 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic deafness genes: A review
    • Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed). 2012; 17: 2213-2236.
    • (2012) Front Biosci (Landmark Ed) , vol.17 , pp. 2213-2236
    • Duman, D.1    Tekin, M.2
  • 3
    • 77955855341 scopus 로고    scopus 로고
    • Recurrent and private MYO15A mutations are associated with deafness in the Turkish population
    • PMID: 20642360
    • Cengiz FB, Duman D, Sirmaci A, Tokgoz-Yilmaz S, Erbek S, Ozturkmen-Akay H, et al. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers. 2010; 14: 543-550. doi: 10.1089/gtmb.2010.0039 PMID: 20642360
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 543-550
    • Cengiz, F.B.1    Duman, D.2    Sirmaci, A.3    Tokgoz-Yilmaz, S.4    Erbek, S.5    Ozturkmen-Akay, H.6
  • 4
    • 84902953912 scopus 로고    scopus 로고
    • X-linked hearing loss: Two gene mutation examples provide generalizable implications for clinical care
    • PMID: 24687041
    • Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, et al. X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. Am J Audiol. 2014; 23: 190-200. doi: 10.1044/2014-AJA-13-0040 PMID: 24687041
    • (2014) Am J Audiol , vol.23 , pp. 190-200
    • Stanton, S.G.1    Griffin, A.2    Stockley, T.L.3    Brown, C.4    Young, T.L.5    Benteau, T.6
  • 5
    • 19944430235 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation
    • PMID: 15637703
    • Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, et al. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. Am J Med Genet A. 2005; 133A: 27-30. PMID: 15637703
    • (2005) Am J Med Genet A , vol.133 A , pp. 27-30
    • Wang, Q.1    Li, R.2    Zhao, H.3    Peters, J.L.4    Liu, Q.5    Yang, L.6
  • 6
    • 84899492169 scopus 로고    scopus 로고
    • Genotype phenotype correlations for hearing impairment: Approaches to management
    • PMID: 24547994
    • Hoefsloot LH, Feenstra I, Kunst HP, Kremer H. Genotype phenotype correlations for hearing impairment: approaches to management. Clinical Genetics. 2014; 85: 514-523. doi: 10.1111/cge. 12339 PMID: 24547994
    • (2014) Clinical Genetics , vol.85 , pp. 514-523
    • Hoefsloot, L.H.1    Feenstra, I.2    Kunst, H.P.3    Kremer, H.4
  • 7
    • 77957911916 scopus 로고    scopus 로고
    • Hearing impairment: A panoply of genes and functions
    • PMID: 20955936
    • Dror AA, Avraham KB. Hearing impairment: a panoply of genes and functions. Neuron. 2010; 68: 293-308. doi: 10.1016/j.neuron.2010.10.011 PMID: 20955936
    • (2010) Neuron , vol.68 , pp. 293-308
    • Dror, A.A.1    Avraham, K.B.2
  • 8
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • PMID: 9139825
    • Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997; 387: 80-83. PMID: 9139825
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3    Lench, N.J.4    Liang, J.N.5    Parry, G.6
  • 9
    • 84921731671 scopus 로고    scopus 로고
    • Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
    • PMID: 25262649
    • Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola JN, Simpson A, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. American Journal of Human Genetics. 2014; 95: 445-453. doi: 10.1016/j.ajhg.2014.09.001 PMID: 25262649
    • (2014) American Journal of Human Genetics , vol.95 , pp. 445-453
    • Shearer, A.E.1    Eppsteiner, R.W.2    Booth, K.T.3    Ephraim, S.S.4    Gurrola, J.N.5    Simpson, A.6
  • 10
    • 79958247104 scopus 로고    scopus 로고
    • Genetic characteristics in children with cochlear implants and the corresponding auditory performance
    • PMID: 21557232
    • Wu CC, Liu TC, Wang SH, Hsu CJ, Wu CM. Genetic characteristics in children with cochlear implants and the corresponding auditory performance. Laryngoscope. 2011; 121: 1287-1293. doi: 10.1002/lary.21751 PMID: 21557232
    • (2011) Laryngoscope , vol.121 , pp. 1287-1293
    • Wu, C.C.1    Liu, T.C.2    Wang, S.H.3    Hsu, C.J.4    Wu, C.M.5
  • 11
    • 84939435949 scopus 로고    scopus 로고
    • Mutations in the myo15a gene are a significant cause of nonsyndromic hearing loss: Massively parallel DNA sequencing-based analysis
    • PMID: 25792667
    • Miyagawa M, Nishio SY, Hattori M, Moteki H, Kobayashi Y, Sato H, et al. Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis. Ann Otol Rhinol Laryngol. 2015; 124: 158S-168S. doi: 10.1177/0003489415575058 PMID: 25792667
    • (2015) Ann Otol Rhinol Laryngol , vol.124 , pp. 158S-168S
    • Miyagawa, M.1    Nishio, S.Y.2    Hattori, M.3    Moteki, H.4    Kobayashi, Y.5    Sato, H.6
  • 12
    • 84907990637 scopus 로고    scopus 로고
    • Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans
    • PMID: 25279224
    • Chang MY, Choi BY. Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans. Korean J Audiol. 2014; 18: 45-49. doi: 10.7874/kja.2014.18.2.45 PMID: 25279224
    • (2014) Korean J Audiol , vol.18 , pp. 45-49
    • Chang, M.Y.1    Choi, B.Y.2
  • 13
    • 84871009580 scopus 로고    scopus 로고
    • Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    • PMID: 23226338
    • Diaz-Horta O, Duman D, Foster JN, Sirmaci A, Gonzalez M, Mahdieh N, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012; 7: e50628. doi: 10.1371/journal.pone.0050628 PMID: 23226338
    • (2012) PLoS One , vol.7 , pp. e50628
    • Diaz-Horta, O.1    Duman, D.2    Foster, J.N.3    Sirmaci, A.4    Gonzalez, M.5    Mahdieh, N.6
  • 14
    • 84876965785 scopus 로고    scopus 로고
    • Genetic analysis of auditory neuropathy spectrum disorder in the Korean population
    • PMID: 23562982
    • Bae SH, Baek JI, Lee JD, Song MH, Kwon TJ, Oh SK, et al. Genetic analysis of auditory neuropathy spectrum disorder in the Korean population. Gene. 2013; 522: 65-69. doi: 10.1016/j.gene.2013.02. 057 PMID: 23562982
    • (2013) Gene , vol.522 , pp. 65-69
    • Bae, S.H.1    Baek, J.I.2    Lee, J.D.3    Song, M.H.4    Kwon, T.J.5    Oh, S.K.6
  • 15
    • 84877589178 scopus 로고    scopus 로고
    • Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor
    • Zheng W, Deng X, Liang H, Song Z, Gao K, Yang Y, et al. Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. Neurobiology of Aging. 2013; 34: 2073-2078.
    • (2013) Neurobiology of Aging , vol.34 , pp. 2073-2078
    • Zheng, W.1    Deng, X.2    Liang, H.3    Song, Z.4    Gao, K.5    Yang, Y.6
  • 16
    • 84914145479 scopus 로고    scopus 로고
    • Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing
    • PMID: 25060345
    • Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, et al. Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing. Biological Chemistry. 2015; 396: 27-33. doi: 10.1515/hsz-2014-0187 PMID: 25060345
    • (2015) Biological Chemistry , vol.396 , pp. 27-33
    • Yuan, L.1    Wu, S.2    Xu, H.3    Xiao, J.4    Yang, Z.5    Xia, H.6
  • 17
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • PMID: 19451168
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25: 1754-1760. doi: 10.1093/bioinformatics/btp324 PMID: 19451168
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 19
    • 68549104404 scopus 로고    scopus 로고
    • The sequence alignment/map format and samtools
    • PMID: 19505943
    • Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009; 25: 2078-2079. doi: 10.1093/bioinformatics/btp352 PMID: 19505943
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3    Fennell, T.4    Ruan, J.5    Homer, N.6
  • 20
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • PMID: 20601685
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research. 2010; 38: e164. doi: 10.1093/nar/gkq603 PMID: 20601685
    • (2010) Nucleic Acids Research , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 21
    • 84885798269 scopus 로고    scopus 로고
    • Genetic analysis of the S100B gene in Chinese patients with Parkinson disease
    • PMID: 24076007
    • Guo Y, Yang H, Deng X, Song Z, Yang Z, Xiong W, et al. Genetic analysis of the S100B gene in Chinese patients with Parkinson disease. Neuroscience Letters. 2013; 555: 134-136. doi: 10.1016/j.neulet.2013.09.037 PMID: 24076007
    • (2013) Neuroscience Letters , vol.555 , pp. 134-136
    • Guo, Y.1    Yang, H.2    Deng, X.3    Song, Z.4    Yang, Z.5    Xiong, W.6
  • 22
    • 84897456458 scopus 로고    scopus 로고
    • MutationTaster2: Mutation prediction for the deepsequencing age
    • PMID: 24681721
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deepsequencing age. Nat Methods. 2014; 11: 361-362. doi: 10.1038/nmeth.2890 PMID: 24681721
    • (2014) Nat Methods , vol.11 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 23
    • 0028836920 scopus 로고
    • A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
    • PMID: 7704031
    • Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genetics. 1995; 9: 86-91. PMID: 7704031
    • (1995) Nature Genetics , vol.9 , pp. 86-91
    • Friedman, T.B.1    Liang, Y.2    Weber, J.L.3    Hinnant, J.T.4    Barber, T.D.5    Winata, S.6
  • 24
    • 17344372052 scopus 로고    scopus 로고
    • Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
    • PMID: 9529344
    • Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, et al. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. American Journal of Human Genetics. 1998; 62: 904-915. PMID: 9529344
    • (1998) American Journal of Human Genetics , vol.62 , pp. 904-915
    • Liang, Y.1    Wang, A.2    Probst, F.J.3    Arhya, I.N.4    Barber, T.D.5    Chen, K.S.6
  • 25
    • 0032729835 scopus 로고    scopus 로고
    • Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
    • PMID: 10552926
    • Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, et al. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Genomics. 1999; 61: 243-258. PMID: 10552926
    • (1999) Genomics , vol.61 , pp. 243-258
    • Liang, Y.1    Wang, A.2    Belyantseva, I.A.3    Anderson, D.W.4    Probst, F.J.5    Barber, T.D.6
  • 26
    • 0032577293 scopus 로고    scopus 로고
    • Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    • PMID: 9603736
    • Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 1998; 280: 1447-1451. PMID: 9603736
    • (1998) Science , vol.280 , pp. 1447-1451
    • Wang, A.1    Liang, Y.2    Fridell, R.A.3    Probst, F.J.4    Wilcox, E.R.5    Touchman, J.W.6
  • 27
    • 0035188190 scopus 로고    scopus 로고
    • Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    • PMID: 11735029
    • Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, et al. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Human Genetics. 2001; 109: 535-541. PMID: 11735029
    • (2001) Human Genetics , vol.109 , pp. 535-541
    • Liburd, N.1    Ghosh, M.2    Riazuddin, S.3    Naz, S.4    Khan, S.5    Ahmed, Z.6
  • 28
    • 84928760763 scopus 로고    scopus 로고
    • Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
    • PMID: 24853665
    • Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, et al. Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical Genetics. 2015; 87: 588-593. doi: 10.1111/cge.12431 PMID: 24853665
    • (2015) Clinical Genetics , vol.87 , pp. 588-593
    • Gu, X.1    Guo, L.2    Ji, H.3    Sun, S.4    Chai, R.5    Wang, L.6
  • 29
    • 84903398951 scopus 로고    scopus 로고
    • Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
    • PMID: 24949729
    • Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, et al. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS One. 2014; 9: e100146. doi: 10. 1371/journal.pone.0100146 PMID: 24949729
    • (2014) PLoS One , vol.9 , pp. e100146
    • Shafique, S.1    Siddiqi, S.2    Schraders, M.3    Oostrik, J.4    Ayub, H.5    Bilal, A.6
  • 30
    • 84900986859 scopus 로고    scopus 로고
    • Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
    • PMID: 24105371
    • Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, et al. Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. European Journal of Human Genetics. 2014; 22: 768-775. doi: 10.1038/ejhg.2013.232 PMID: 24105371
    • (2014) European Journal of Human Genetics , vol.22 , pp. 768-775
    • Brownstein, Z.1    Abu-Rayyan, A.2    Karfunkel-Doron, D.3    Sirigu, S.4    Davidov, B.5    Shohat, M.6
  • 31
    • 84902820696 scopus 로고    scopus 로고
    • Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
    • PMID: 24926664
    • Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, et al. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. PLoS One. 2014; 9: e99797. doi: 10.1371/journal.pone.0099797 PMID: 24926664
    • (2014) PLoS One , vol.9 , pp. e99797
    • Riahi, Z.1    Bonnet, C.2    Zainine, R.3    Louha, M.4    Bouyacoub, Y.5    Laroussi, N.6
  • 32
    • 84887120162 scopus 로고    scopus 로고
    • Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
    • PMID: 24206587
    • Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, et al. Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing. J Transl Med. 2013; 11: 284. doi: 10.1186/1479-5876-11-284 PMID: 24206587
    • (2013) J Transl Med , vol.11 , pp. 284
    • Gao, X.1    Zhu, Q.Y.2    Song, Y.S.3    Wang, G.J.4    Yuan, Y.Y.5    Xin, F.6
  • 33
    • 84881489263 scopus 로고    scopus 로고
    • Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients
    • PMID: 23967202
    • Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S. Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One. 2013; 8: e71381. doi: 10.1371/journal.pone.0071381 PMID: 23967202
    • (2013) PLoS One , vol.8 , pp. e71381
    • Miyagawa, M.1    Naito, T.2    Nishio, S.Y.3    Kamatani, N.4    Usami, S.5
  • 34
    • 84880184179 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
    • PMID: 23865914
    • Woo HM, Park HJ, Baek JI, Park MH, Kim UK, Sagong B, et al. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet. 2013; 14: 72. doi: 10.1186/1471-2350-14-72 PMID: 23865914
    • (2013) BMC Med Genet , vol.14 , pp. 72
    • Woo, H.M.1    Park, H.J.2    Baek, J.I.3    Park, M.H.4    Kim, U.K.5    Sagong, B.6
  • 35
    • 84878895417 scopus 로고    scopus 로고
    • Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
    • PMID: 23767834
    • Yang T, Wei X, Chai Y, Li L, Wu H. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013; 8: 85. doi: 10.1186/1750-1172-8-85 PMID: 23767834
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 85
    • Yang, T.1    Wei, X.2    Chai, Y.3    Li, L.4    Wu, H.5
  • 36
    • 84885156841 scopus 로고    scopus 로고
    • Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS
    • PMID: 24130743
    • Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 2013; 8: e75793. doi: 10.1371/journal.pone.0075793 PMID: 24130743
    • (2013) PLoS One , vol.8 , pp. e75793
    • Miyagawa, M.1    Nishio, S.Y.2    Ikeda, T.3    Fukushima, K.4    Usami, S.5
  • 37
    • 84864151320 scopus 로고    scopus 로고
    • Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
    • PMID: 22736430
    • Fattahi Z, Shearer AE, Babanejad M, Bazazzadegan N, Almadani SN, Nikzat N, et al. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A: 1857-1864. doi: 10.1002/ajmg.a.34411 PMID: 22736430
    • (2012) Am J Med Genet A , vol.158 A , pp. 1857-1864
    • Fattahi, Z.1    Shearer, A.E.2    Babanejad, M.3    Bazazzadegan, N.4    Almadani, S.N.5    Nikzat, N.6
  • 38
    • 84857441955 scopus 로고    scopus 로고
    • Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
    • PMID: 22245518
    • Bashir R, Fatima A, Naz S. Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss. Eur J Med Genet. 2012; 55: 99-102. doi: 10.1016/j.ejmg.2011.12.003 PMID: 22245518
    • (2012) Eur J Med Genet , vol.55 , pp. 99-102
    • Bashir, R.1    Fatima, A.2    Naz, S.3
  • 39
    • 80052869041 scopus 로고    scopus 로고
    • Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    • PMID: 21917145
    • Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu RA, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 2011; 12: R89. doi: 10.1186/gb-2011-12-9-r89 PMID: 21917145
    • (2011) Genome Biol , vol.12 , pp. R89
    • Brownstein, Z.1    Friedman, L.M.2    Shahin, H.3    Oron-Karni, V.4    Kol, N.5    Abu, R.A.6
  • 40
    • 79951991591 scopus 로고    scopus 로고
    • Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
    • PMID: 21117948
    • Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers. 2011; 15: 29-33. doi: 10.1089/gtmb.2010.0120 PMID: 21117948
    • (2011) Genet Test Mol Biomarkers , vol.15 , pp. 29-33
    • Duman, D.1    Sirmaci, A.2    Cengiz, F.B.3    Ozdag, H.4    Tekin, M.5
  • 41
    • 79959784947 scopus 로고    scopus 로고
    • A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
    • PMID: 21726435
    • Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, et al. A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet. 2011; 12: 91. doi: 10.1186/1471-2350-12-91 PMID: 21726435
    • (2011) BMC Med Genet , vol.12 , pp. 91
    • Imtiaz, F.1    Taibah, K.2    Ramzan, K.3    Bin-Khamis, G.4    Kennedy, S.5    Al-Mubarak, B.6
  • 42
    • 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
    • PMID: 19309289
    • Belguith H, Aifa-Hmani M, Dhouib H, Said MB, Mosrati MA, Lahmar I, et al. 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. 2009; 13: 147-151. doi: 10. 1089/gtmb.2008.0077 PMID: 19309289
    • (2009) Genet Test Mol Biomarkers , vol.13 , pp. 147-151
    • Belguith, H.1    Aifa-Hmani, M.2    Dhouib, H.3    Said, M.B.4    Mosrati, M.A.5    Lahmar, I.6
  • 43
    • 65249156445 scopus 로고    scopus 로고
    • Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
    • PMID: 19274735
    • Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, et al. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope. 2009; 119: 727-733. doi: 10.1002/lary.20116 PMID: 19274735
    • (2009) Laryngoscope , vol.119 , pp. 727-733
    • Shearer, A.E.1    Hildebrand, M.S.2    Webster, J.A.3    Kahrizi, K.4    Meyer, N.C.5    Jalalvand, K.6
  • 45
    • 34848929025 scopus 로고    scopus 로고
    • MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    • PMID: 17853461
    • Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, et al. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007; 143A: 2382-2389. PMID: 17853461
    • (2007) Am J Med Genet A , vol.143 A , pp. 2382-2389
    • Kalay, E.1    Uzumcu, A.2    Krieger, E.3    Caylan, R.4    Uyguner, O.5    Ulubil-Emiroglu, M.6
  • 46
    • 34948880109 scopus 로고    scopus 로고
    • Mutational spectrum of MYO15A: The large N-terminal extension of myosin XVA is required for hearing
    • PMID: 17546645
    • Nal N, Ahmed ZM, Erkal E, Alper OM, Luleci G, Dinc O, et al. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Human Mutation. 2007; 28: 1014-1019. PMID: 17546645
    • (2007) Human Mutation , vol.28 , pp. 1014-1019
    • Nal, N.1    Ahmed, Z.M.2    Erkal, E.3    Alper, O.M.4    Luleci, G.5    Dinc, O.6
  • 47
    • 77949655513 scopus 로고    scopus 로고
    • Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
    • PMID: 19888295
    • Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, et al. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. European Journal of Human Genetics. 2010; 18: 407-413. doi: 10.1038/ejhg.2009.190 PMID: 19888295
    • (2010) European Journal of Human Genetics , vol.18 , pp. 407-413
    • Shahin, H.1    Walsh, T.2    Rayyan, A.A.3    Lee, M.K.4    Higgins, J.5    Dickel, D.6
  • 48
    • 13944260197 scopus 로고    scopus 로고
    • Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    • PMID: 15654330
    • Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, et al. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nature Cell Biology. 2005; 7: 148-156. PMID: 15654330
    • (2005) Nature Cell Biology , vol.7 , pp. 148-156
    • Belyantseva, I.A.1    Boger, E.T.2    Naz, S.3    Frolenkov, G.I.4    Sellers, J.R.5    Ahmed, Z.M.6
  • 49
    • 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
    • PMID: 14610277
    • Belyantseva IA, Boger ET, Friedman TB. 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 U S A. 2003; 100: 13958-13963. PMID: 14610277
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 13958-13963
    • Belyantseva, I.A.1    Boger, E.T.2    Friedman, T.B.3
  • 50
    • 17644442703 scopus 로고    scopus 로고
    • Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
    • PMID: 9603735
    • Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science. 1998; 280: 1444-1447. PMID: 9603735
    • (1998) Science , vol.280 , pp. 1444-1447
    • Probst, F.J.1    Fridell, R.A.2    Raphael, Y.3    Saunders, T.L.4    Wang, A.5    Liang, Y.6
  • 51
    • 79151470659 scopus 로고    scopus 로고
    • Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8
    • PMID: 21236676
    • Manor U, Disanza A, Grati M, Andrade L, Lin H, Di Fiore PP, et al. Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Current Biology. 2011; 21: 167-172. doi: 10.1016/j.cub.2010.12.046 PMID: 21236676
    • (2011) Current Biology , vol.21 , pp. 167-172
    • Manor, U.1    Disanza, A.2    Grati, M.3    Andrade, L.4    Lin, H.5    Di Fiore, P.P.6
  • 52
    • 4644326930 scopus 로고    scopus 로고
    • A microtubule-binding myosin required for nuclear anchoring and spindle assembly
    • PMID: 15372037
    • Weber KL, Sokac AM, Berg JS, Cheney RE, Bement WM. A microtubule-binding myosin required for nuclear anchoring and spindle assembly. Nature. 2004; 431: 325-329. PMID: 15372037
    • (2004) Nature , vol.431 , pp. 325-329
    • Weber, K.L.1    Sokac, A.M.2    Berg, J.S.3    Cheney, R.E.4    Bement, W.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.