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Volumn 35, Issue 5, 2014, Pages 565-570

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the "DFNA48 Gene", as a Cause of Deafness

Author keywords

Deafness; MYO1A; Next generation sequencing; Nonpathogenic

Indexed keywords

MYOSIN VIIA; MYO1A PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; MYOSIN I;

EID: 84898812882     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22532     Document Type: Article
Times cited : (34)

References (38)
  • 1
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • Chapter 7, Unit7 20
    • Adzhubei I, Jordan DM, Sunyaev SR. 2013. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7:Unit7 20.
    • (2013) Curr Protoc Hum Genet
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 4
    • 0025744474 scopus 로고
    • Prediction of human mRNA donor and acceptor sites from the DNA sequence
    • Brunak S, Engelbrecht J, Knudsen S. 1991. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220(1):49-65.
    • (1991) J Mol Biol , vol.220 , Issue.1 , pp. 49-65
    • Brunak, S.1    Engelbrecht, J.2    Knudsen, S.3
  • 9
    • 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(3):147-157.
    • (1999) Am J Med Genet , vol.89 , Issue.3 , pp. 147-157
    • Friedman, T.B.1    Sellers, J.R.2    Avraham, K.B.3
  • 11
    • 2342458432 scopus 로고    scopus 로고
    • Myosin-1c, the hair cell's adaptation motor
    • Gillespie PG, Cyr JL. 2004. Myosin-1c, the hair cell's adaptation motor. Annu Rev Physiol 66:521-545.
    • (2004) Annu Rev Physiol , vol.66 , pp. 521-545
    • Gillespie, P.G.1    Cyr, J.L.2
  • 12
    • 0029791403 scopus 로고    scopus 로고
    • Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
    • Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. 1996. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24(17):3439-3452.
    • (1996) Nucleic Acids Res , vol.24 , Issue.17 , pp. 3439-3452
    • Hebsgaard, S.M.1    Korning, P.G.2    Tolstrup, N.3    Engelbrecht, J.4    Rouze, P.5    Brunak, S.6
  • 13
    • 59349118706 scopus 로고    scopus 로고
    • Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
    • Hilgert N, Smith RJ, Van Camp G. 2009. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681(2-3):189-196.
    • (2009) Mutat Res , vol.681 , Issue.2-3 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van Camp, G.3
  • 16
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754-1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 18
    • 79960763462 scopus 로고    scopus 로고
    • dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions
    • Liu X, Jian X, Boerwinkle E. 2011. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 32(8):894-899.
    • (2011) Hum Mutat , vol.32 , Issue.8 , pp. 894-899
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 19
    • 33644993216 scopus 로고    scopus 로고
    • Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
    • Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV. 2006. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 34(5):1317-1325.
    • (2006) Nucleic Acids Res , vol.34 , Issue.5 , pp. 1317-1325
    • Mathe, E.1    Olivier, M.2    Kato, S.3    Ishioka, C.4    Hainaut, P.5    Tavtigian, S.V.6
  • 23
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. 2003. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812-3814.
    • (2003) Nucleic Acids Res , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 24
    • 84881618216 scopus 로고    scopus 로고
    • XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
    • Piton A, Redin C, Mandel JL. 2013. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 93(2):368-383.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 368-383
    • Piton, A.1    Redin, C.2    Mandel, J.L.3
  • 26
    • 84875217898 scopus 로고    scopus 로고
    • Disease-targeted sequencing: a cornerstone in the clinic
    • Rehm HL. 2013. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14(4):295-300.
    • (2013) Nat Rev Genet , vol.14 , Issue.4 , pp. 295-300
    • Rehm, H.L.1
  • 27
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: application to cancer genomics
    • Reva B, Antipin Y, Sander C. 2011. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 39:e118.
    • (2011) Nucleic Acids Res , vol.39
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 30
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575-876.
    • (2010) Nat Methods , vol.7 , Issue.8 , pp. 575-876
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 31
    • 84878880551 scopus 로고    scopus 로고
    • Predicting the functional consequences of cancer-associated amino acid substitutions
    • Shihab HA, Gough J, Cooper DN, Day IN, Gaunt TR. 2013a. Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics 29:1504-1510.
    • (2013) Bioinformatics , vol.29 , pp. 1504-1510
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3    Day, I.N.4    Gaunt, T.R.5
  • 32
    • 84871578629 scopus 로고    scopus 로고
    • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    • Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR. 2013b. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 34:57-65.
    • (2013) Hum Mutat , vol.34 , pp. 57-65
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3    Stenson, P.D.4    Barker, G.L.5    Edwards, K.J.6    Day, I.N.7    Gaunt, T.R.8
  • 33
    • 84891837451 scopus 로고    scopus 로고
    • The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133(1):1-9.
    • (2014) Hum Genet , vol.133 , Issue.1 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6
  • 36
    • 77952874418 scopus 로고    scopus 로고
    • Myosin-1a: a motor for microvillar membrane movement and mechanics
    • Tyska MJ, Nambiar R. 2010. Myosin-1a: a motor for microvillar membrane movement and mechanics. Commun Integr Biol 3(1):64-66.
    • (2010) Commun Integr Biol , vol.3 , Issue.1 , pp. 64-66
    • Tyska, M.J.1    Nambiar, R.2
  • 37
    • 77952586314 scopus 로고    scopus 로고
    • The 1000 Genomes Project: new opportunities for research and social challenges
    • Via M, Gignoux C, Burchard EG. 2010. The 1000 Genomes Project: new opportunities for research and social challenges. Genome Med 2(1):3.
    • (2010) Genome Med , vol.2 , Issue.1 , pp. 3
    • Via, M.1    Gignoux, C.2    Burchard, E.G.3
  • 38
    • 38349054763 scopus 로고    scopus 로고
    • Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a
    • Yengo CM, Ananthanarayanan SK, Brosey CA, Mao S, Tyska MJ 2008. Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a. Biophys J 94(2):L5-L7.
    • (2008) Biophys J , vol.94 , Issue.2
    • Yengo, C.M.1    Ananthanarayanan, S.K.2    Brosey, C.A.3    Mao, S.4    Tyska, M.J.5


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