메뉴 건너뛰기




Volumn 149, Issue 4, 2009, Pages 681-684

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss

Author keywords

Connexins; Hearing loss; Skin diseases

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 63749114555     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32765     Document Type: Article
Times cited : (14)

References (26)
  • 1
    • 22044444273 scopus 로고    scopus 로고
    • G59S mutation in GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome
    • Alexandrino F, Sartorato EL, Marques de Faria AP, Steiner CE. 2005. G59S mutation in GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet Part A 136A:282-284.
    • (2005) Am J Med Genet , vol.136 A , Issue.PART A , pp. 282-284
    • Alexandrino, F.1    Sartorato, E.L.2    Marques de Faria, A.P.3    Steiner, C.E.4
  • 2
    • 0029974655 scopus 로고    scopus 로고
    • Connections with connexins: The molecular basis of direct intercellular signaling
    • Bruzzone R, White TW, Paul DL. 1996. Connections with connexins: The molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27.
    • (1996) Eur J Biochem , vol.238 , pp. 1-27
    • Bruzzone, R.1    White, T.W.2    Paul, D.L.3
  • 4
    • 22244489070 scopus 로고    scopus 로고
    • Del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, Leonardi E, Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlim S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín,Y Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl H-HM, Kanaan M, Nance WE, Petit C, Smith RJH, Van Camp G, Sartorato EL, Murgia A, Moreno F, Del Castillo I. 2005. A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 42:588-594.
    • Del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, Leonardi E, Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlim S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín,Y Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl H-HM, Kanaan M, Nance WE, Petit C, Smith RJH, Van Camp G, Sartorato EL, Murgia A, Moreno F, Del Castillo I. 2005. A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 42:588-594.
  • 5
    • 0034773461 scopus 로고    scopus 로고
    • Multiple epidermal connexins are expressed in different keratinocyte subpopulations including con-nexin 31
    • Di WL, RuggEL, Leigh IM, Kelsell DP. 2001. Multiple epidermal connexins are expressed in different keratinocyte subpopulations including con-nexin 31. J Invest Dermatol 117:958-964.
    • (2001) J Invest Dermatol , vol.117 , pp. 958-964
    • Di, W.L.1    Rugg, E.L.2    Leigh, I.M.3    Kelsell, D.P.4
  • 9
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense mediated mRNA decay in health and disease
    • Frischmeyer PA, Dietz HC. 1999. Nonsense mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900.
    • (1999) Hum Mol Genet , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 10
    • 33750597137 scopus 로고    scopus 로고
    • V37I connexin 26 allele in patients with sensorineural heaing loss: Evidence of its pathogenicity
    • Huculak C, Bruyere H, Nelson TN, Kozak FK, Langois S. 2006. V37I connexin 26 allele in patients with sensorineural heaing loss: Evidence of its pathogenicity. Am J Med Genet Part A 140A:2394-2400.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 2394-2400
    • Huculak, C.1    Bruyere, H.2    Nelson, T.N.3    Kozak, F.K.4    Langois, S.5
  • 11
  • 12
    • 33645002735 scopus 로고    scopus 로고
    • Life cycles ofconnexins in health and disease
    • Laird DW. 2006. Life cycles ofconnexins in health and disease. Biochem J 394:527-543.
    • (2006) Biochem J , vol.394 , pp. 527-543
    • Laird, D.W.1
  • 14
    • 0043133727 scopus 로고    scopus 로고
    • Mutation analysis ofconnexin 31 (GJB3) in sporadic nonsyndromic hearing impairment
    • Mhatre AN, Weld E, Lalwani AK. 2003. Mutation analysis ofconnexin 31 (GJB3) in sporadic nonsyndromic hearing impairment. Clin Genet 63:154-159.
    • (2003) Clin Genet , vol.63 , pp. 154-159
    • Mhatre, A.N.1    Weld, E.2    Lalwani, A.K.3
  • 16
    • 0031785706 scopus 로고    scopus 로고
    • Mutated connexin 43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin 43 in a dominant-negative manner
    • Omori Y, Yamasaki H. 1998. Mutated connexin 43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin 43 in a dominant-negative manner. Int J Cancer 78:446-53.
    • (1998) Int J Cancer , vol.78 , pp. 446-453
    • Omori, Y.1    Yamasaki, H.2
  • 17
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R, Gasparini P, Estivill X. 2000. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16:190-202.
    • (2000) Hum Mutat , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 18
    • 0035226626 scopus 로고    scopus 로고
    • Connexin disorders of the skin
    • Richard G. 2001. Connexin disorders of the skin. Adv Dermatol 17:243-277.
    • (2001) Adv Dermatol , vol.17 , pp. 243-277
    • Richard, G.1
  • 19
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects ofC×g from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. 1998. Functional defects ofC×g from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma. Hum Genet 103:393-399.
    • (1998) Hum Genet , vol.103 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3    Bailey, R.A.4    Compton, J.G.5    Paul, D.L.6    Bale, S.J.7
  • 21
    • 0037378471 scopus 로고    scopus 로고
    • Genetic heterogeinity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (C×nd genotype-phenotype correlations
    • Richard G, Brown K, Rouan F, An Der Schroeff JG, Bijlsma E, Eichenfield LF, et al. 2003. Genetic heterogeinity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (C×nd genotype-phenotype correlations. J Invest Dermatol 120:601-609.
    • (2003) J Invest Dermatol , vol.120 , pp. 601-609
    • Richard, G.1    Brown, K.2    Rouan, F.3    An Der Schroeff, J.G.4    Bijlsma, E.5    Eichenfield, L.F.6
  • 22
    • 0037728362 scopus 로고    scopus 로고
    • Divergent effects of two sequence variants of GJB3 gene (G12D and R32W) on the function of connexin 31 in vitro
    • Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Robeck U, Uitto J, Richard G. 2003. Divergent effects of two sequence variants of GJB3 gene (G12D and R32W) on the function of connexin 31 in vitro. Exp Dermatol 12:191-197.
    • (2003) Exp Dermatol , vol.12 , pp. 191-197
    • Rouan, F.1    Lo, C.W.2    Fertala, A.3    Wahl, M.4    Jost, M.5    Robeck, U.6    Uitto, J.7    Richard, G.8
  • 24
    • 34147185848 scopus 로고    scopus 로고
    • Mutations in GJB2, GJB6 and mitochondrial DNA are rare in african american and caribbean hispanic individuals with hearing impairment
    • Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE. 2007. Mutations in GJB2, GJB6 and mitochondrial DNA are rare in african american and caribbean hispanic individuals with hearing impairment. Am J Med Genet Part A 143A:830-838.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 830-838
    • Samanich, J.1    Lowes, C.2    Burk, R.3    Shanske, S.4    Lu, J.5    Shanske, A.6    Morrow, B.E.7
  • 25
    • 0036821529 scopus 로고    scopus 로고
    • The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
    • Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, et al. 2002. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 62:306-309.
    • (2002) Clin Genet , vol.62 , pp. 306-309
    • Uyguner, O.1    Tukel, T.2    Baykal, C.3    Eris, H.4    Emiroglu, M.5    Hafiz, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.