메뉴 건너뛰기




Volumn 68, Issue 6, 2005, Pages 554-557

GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: Spectrum, frequencies and SNP analysis [3]

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; DNA; GAP JUNCTION PROTEIN; GLYCINE; PROTEIN GJB2; SERINE; UNCLASSIFIED DRUG;

EID: 28644448163     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00529.x     Document Type: Letter
Times cited : (15)

References (30)
  • 1
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997: 387 (6628): 80-83.
    • (1997) Nature , vol.387 , Issue.6628 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 2
    • 0032575085 scopus 로고    scopus 로고
    • Connexin 26 gene linked to a dominant deafness
    • Denoyelle F, Lina-Granade G, Plauchu H et al. Connexin 26 gene linked to a dominant deafness. Nature 1998: 393 (6683): 319-320.
    • (1998) Nature , vol.393 , Issue.6683 , pp. 319-320
    • Denoyelle, F.1    Lina-Granade, G.2    Plauchu, H.3
  • 3
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998: 103 (4): 393-399.
    • (1998) Hum. Genet. , vol.103 , Issue.4 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3
  • 4
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
    • Denoyelle F, Weil D, Maw MA et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997: 6 (12): 2173-2177.
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.12 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3
  • 5
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997: 6 (9): 1605-1609.
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.9 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 6
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
    • Gasparini P, Rabionet R, Barbujani G et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000: 8 (1): 19-23.
    • (2000) Eur. J. Hum. Genet. , vol.8 , Issue.1 , pp. 19-23
    • Gasparini, P.1    Rabionet, R.2    Barbujani, G.3
  • 7
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000: 110 (9): 1535-1538.
    • (2000) Laryngoscope , vol.110 , Issue.9 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 8
    • 0034677194 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    • Kudo T, Ikeda K, Kure S et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000: 90 (2): 141-145.
    • (2000) Am. J. Med. Genet. , vol.90 , Issue.2 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3
  • 9
    • 0036947286 scopus 로고    scopus 로고
    • Connexin26 gene (GJB2): Prevalence of mutations in the Chinese population
    • Liu Y, Ke X, Qi Y, Li W, Zhu P. Connexin26 gene (GJB2): prevalence of mutations in the Chinese population. J Hum Genet 2002: 47 (12): 688-690.
    • (2002) J. Hum. Genet. , vol.47 , Issue.12 , pp. 688-690
    • Liu, Y.1    Ke, X.2    Qi, Y.3    Li, W.4    Zhu, P.5
  • 10
    • 0035991723 scopus 로고    scopus 로고
    • Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan
    • Wang YC, Kung CY, Su MC et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet 2002: 10 (8): 495-498.
    • (2002) Eur. J. Hum. Genet. , vol.10 , Issue.8 , pp. 495-498
    • Wang, Y.C.1    Kung, C.Y.2    Su, M.C.3
  • 11
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell RJ, Kim HJ, Hood LJ et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998: 339 (21): 1500-1505.
    • (1998) N. Engl. J. Med. , vol.339 , Issue.21 , pp. 1500-1505
    • Morell, R.J.1    Kim, H.J.2    Hood, L.J.3
  • 12
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
    • Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998: 338 (8): 548-550.
    • (1998) N. Engl. J. Med. , vol.338 , Issue.8 , pp. 548-550
    • Brobby, G.W.1    Muller-Myhsok, B.2    Horstmann, R.D.3
  • 13
    • 0035232752 scopus 로고    scopus 로고
    • Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
    • Hamelmann C, Amedofu GK, Albrecht K et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001: 18 (1): 84-85.
    • (2001) Hum. Mutat. , vol.18 , Issue.1 , pp. 84-85
    • Hamelmann, C.1    Amedofu, G.K.2    Albrecht, K.3
  • 14
    • 0041321501 scopus 로고    scopus 로고
    • Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
    • Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PS. Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet 2003: 120 (2): 180-184.
    • (2003) Am. J. Med. Genet. , vol.120 , Issue.2 , pp. 180-184
    • Maheshwari, M.1    Vijaya, R.2    Ghosh, M.3    Shastri, S.4    Kabra, M.5    Menon, P.S.6
  • 15
    • 0043280848 scopus 로고    scopus 로고
    • Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
    • RamShankar M, Girirajan S, Dagan O et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003: 40 (5): e68.
    • (2003) J. Med. Genet. , vol.40 , Issue.5
    • RamShankar, M.1    Girirajan, S.2    Dagan, O.3
  • 16
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    • Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 2003: 22 (4): 549-556.
    • (2003) Gen. Physiol. Biophys. , vol.22 , Issue.4 , pp. 549-556
    • Minarik, G.1    Ferak, V.2    Ferakova, E.3    Ficek, A.4    Polakova, H.5    Kadasi, L.6
  • 17
    • 0034116117 scopus 로고    scopus 로고
    • A simple PCR test to detect the common 35delG mutation in the connexin 26 gene
    • Wilcox SA, Osborn AH, Dahl HH. A simple PCR test to detect the common 35delG mutation in the connexin 26 gene. Mol Diagn 2000: 5 (1): 75-78.
    • (2000) Mol. Diagn. , vol.5 , Issue.1 , pp. 75-78
    • Wilcox, S.A.1    Osborn, A.H.2    Dahl, H.H.3
  • 18
    • 7144228618 scopus 로고    scopus 로고
    • Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
    • Scott DA, Kraft ML, Carmi R et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998: 11 (5): 387-394.
    • (1998) Hum. Mutat. , vol.11 , Issue.5 , pp. 387-394
    • Scott, D.A.1    Kraft, M.L.2    Carmi, R.3
  • 19
    • 0034881345 scopus 로고    scopus 로고
    • A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    • Van Laer L, Coucke P, Mueller RF et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001: 38 (8): 515-518.
    • (2001) J. Med. Genet. , vol.38 , Issue.8 , pp. 515-518
    • Van Laer, L.1    Coucke, P.2    Mueller, R.F.3
  • 20
    • 0036705561 scopus 로고    scopus 로고
    • Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations - Phenotypic spectrum and frequencies of GJB2 mutations in Austria
    • Janecke AR, Hirst-Stadlmann A, Gunther B et al. Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations - phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet 2002: 111 (2): 145-153.
    • (2002) Hum. Genet. , vol.111 , Issue.2 , pp. 145-153
    • Janecke, A.R.1    Hirst-Stadlmann, A.2    Gunther, B.3
  • 21
    • 4344627625 scopus 로고    scopus 로고
    • Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
    • Seeman P, Malikova M, Raskova D et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin Genet 2004: 66 (2): 152-157.
    • (2004) Clin. Genet. , vol.66 , Issue.2 , pp. 152-157
    • Seeman, P.1    Malikova, M.2    Raskova, D.3
  • 22
    • 0037009264 scopus 로고    scopus 로고
    • Prevalence of GJB2 mutations in prelingual deafness in the Greek population
    • Pampanos A, Economides J, Iliadou V et al. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol 2002: 65 (2): 101-108.
    • (2002) Int. J. Pediatr. Otorhinolaryngol. , vol.65 , Issue.2 , pp. 101-108
    • Pampanos, A.1    Economides, J.2    Iliadou, V.3
  • 23
    • 0141640888 scopus 로고    scopus 로고
    • Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland
    • Löppönen T, Vaisanen ML, Luotonen M et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope 2003: 113 (10): 1758-1763.
    • (2003) Laryngoscope , vol.113 , Issue.10 , pp. 1758-1763
    • Löppönen, T.1    Vaisanen, M.L.2    Luotonen, M.3
  • 24
    • 18544388829 scopus 로고    scopus 로고
    • Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
    • Frei K, Szuhai K, Lucas T et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet 2002: 10 (7): 427-432.
    • (2002) Eur. J. Hum. Genet. , vol.10 , Issue.7 , pp. 427-432
    • Frei, K.1    Szuhai, K.2    Lucas, T.3
  • 26
    • 28644439853 scopus 로고    scopus 로고
    • Prevalence of GJB2 and GJB6 mutations in non-syndromic hearing loss among the Italian population
    • Mantovani V, Bastia D, Paterini P et al. Prevalence of GJB2 and GJB6 mutations in non-syndromic hearing loss among the Italian population. Eur J Hum Genet 2004: 12(1 Suppl. 1): 222.
    • (2004) Eur. J. Hum. Genet. , vol.12 , Issue.1 SUPPL. 1 , pp. 222
    • Mantovani, V.1    Bastia, D.2    Paterini, P.3
  • 27
    • 0033014505 scopus 로고    scopus 로고
    • High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
    • Antoniadi T, Rabionet R, Kroupis C et al. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999: 55 (5): 381-382.
    • (1999) Clin. Genet. , vol.55 , Issue.5 , pp. 381-382
    • Antoniadi, T.1    Rabionet, R.2    Kroupis, C.3
  • 28
    • 0034876240 scopus 로고    scopus 로고
    • Meta-analysis of GJB2 mutation 35delG frequencies in Europe
    • Lucotte G, Mercier G. Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet Test 2001: 5 (2): 149-152.
    • (2001) Genet. Test. , vol.5 , Issue.2 , pp. 149-152
    • Lucotte, G.1    Mercier, G.2
  • 29
    • 21644464285 scopus 로고    scopus 로고
    • Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary
    • Bors A, Andrikovics H, Kalmar L et al. Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary. Int J Mol Med 2004: 14 (6): 1105-1108.
    • (2004) Int. J. Mol. Med. , vol.14 , Issue.6 , pp. 1105-1108
    • Bors, A.1    Andrikovics, H.2    Kalmar, L.3
  • 30
    • 0031949442 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    • Kelley PM, Harris DJ, Comer BC et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998: 62 (4): 792-799.
    • (1998) Am. J. Hum. Genet. , vol.62 , Issue.4 , pp. 792-799
    • Kelley, P.M.1    Harris, D.J.2    Comer, B.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.