메뉴 건너뛰기




Volumn 58, Issue 3, 2011, Pages 359-363

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation

Author keywords

GJB1 gene; IRES element; Mutations in regulatory elements; Transcription; Translation

Indexed keywords


EID: 81355135277     PISSN: 0001527X     EISSN: 1734154X     Source Type: Journal    
DOI: 10.18388/abp.2011_2247     Document Type: Article
Times cited : (11)

References (27)
  • 1
    • 0034531151 scopus 로고    scopus 로고
    • Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
    • Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107: 494-498.
    • (2000) Hum Genet , vol.107 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2
  • 3
    • 30644478106 scopus 로고    scopus 로고
    • Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF/SIMPLE
    • Beauvais K, Furby A, Latour P (2006) Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF/SIMPLE. Neuromuscul Disord 16: 14-18.
    • (2006) Neuromuscul Disord , vol.16 , pp. 14-18
    • Beauvais, K.1    Furby, A.2    Latour, P.3
  • 5
    • 0035891831 scopus 로고    scopus 로고
    • Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
    • Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M (2001) Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 10: 2783-2795.
    • (2001) Hum Mol Genet , vol.10 , pp. 2783-2795
    • Bondurand, N.1    Girard, M.2    Pingault, V.3    Lemort, N.4    Dubourg, O.5    Goossens, M.6
  • 7
    • 0018234260 scopus 로고
    • Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels
    • de Weerdt CJ (1978) Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels. Eur Neurol 17: 336-344.
    • (1978) Eur Neurol , vol.17 , pp. 336-344
    • de Weerdt, C.J.1
  • 9
    • 0034651233 scopus 로고    scopus 로고
    • The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients
    • Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S, Asano S, Nakahata T (2000) The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 95: 1493-1498.
    • (2000) Blood , vol.95 , pp. 1493-1498
    • Futaki, M.1    Yamashita, T.2    Yagasaki, H.3    Toda, T.4    Yabe, M.5    Kato, S.6    Asano, S.7    Nakahata, T.8
  • 11
    • 0034602282 scopus 로고    scopus 로고
    • Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene
    • Hudder A, Werner R (2000) Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene. J Biol Chem 275: 34586-34591.
    • (2000) J Biol Chem , vol.275 , pp. 34586-34591
    • Hudder, A.1    Werner, R.2
  • 12
    • 0029788204 scopus 로고    scopus 로고
    • Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R (1996) Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47: 541-544.
    • (1996) Neurology , vol.47 , pp. 541-544
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Neuhaus, I.M.4    Werner, R.5
  • 13
    • 84859765929 scopus 로고    scopus 로고
    • IPNMD
    • IPNMD http://www.molgen.ua.ac.be/cmtmutations/Mutations/Mutations.cfm
    • (2012)
  • 14
    • 0020469706 scopus 로고
    • A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance
    • Iselius L, Grimby L (1982) A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance. Hereditas 97: 157-158.
    • (1982) Hereditas , vol.97 , pp. 157-158
    • Iselius, L.1    Grimby, L.2
  • 15
    • 69549120633 scopus 로고    scopus 로고
    • Screening of the 17p11.2-p12 region in a large kohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)
    • Kabzińska D, Pierscinska J, Kochański A (2009) Screening of the 17p11.2-p12 region in a large kohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP). J Appl Genetics 50: 283-288.
    • (2009) J Appl Genetics , vol.50 , pp. 283-288
    • Kabzińska, D.1    Pierscinska, J.2    Kochański, A.3
  • 16
    • 33745246046 scopus 로고    scopus 로고
    • Molecular genetics of X-linked Charcot-Marie-Tooth disease
    • Kleopa KA, Scherer SS (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 8: 107-122.
    • (2006) Neuromolecular Med , vol.8 , pp. 107-122
    • Kleopa, K.A.1    Scherer, S.S.2
  • 19
    • 0025883162 scopus 로고
    • Internal initiation of translation mediated by the 5' leader of a cellular mRNA
    • Macejak DG, Sarnow P (1991) Internal initiation of translation mediated by the 5' leader of a cellular mRNA. Nature 353: 90-94.
    • (1991) Nature , vol.353 , pp. 90-94
    • Macejak, D.G.1    Sarnow, P.2
  • 20
    • 0029811854 scopus 로고    scopus 로고
    • The human connexin32 gene is transcribed from two tissue-specific promoters
    • Neuhaus IM, Bone L, Wang S, Ionasescu V, Werner R (1996) The human connexin32 gene is transcribed from two tissue-specific promoters. Biosci Rep 16: 239-248.
    • (1996) Biosci Rep , vol.16 , pp. 239-248
    • Neuhaus, I.M.1    Bone, L.2    Wang, S.3    Ionasescu, V.4    Werner, R.5
  • 21
    • 0029035158 scopus 로고
    • Use of alternate promoters for tissue-specific expression of the gene coding for connexin32
    • Neuhaus IM, Dahl G, Werner R (1995) Use of alternate promoters for tissue-specific expression of the gene coding for connexin32. Gene 158: 257-262.
    • (1995) Gene , vol.158 , pp. 257-262
    • Neuhaus, I.M.1    Dahl, G.2    Werner, R.3
  • 24
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6: 98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 25
    • 0035872239 scopus 로고    scopus 로고
    • A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver
    • Söhl G, Theis M, Hallas G, Brambach S, Dahl E, Kidder G, Willecke K (2001) A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver. Exp Cell Res 266: 177-186.
    • (2001) Exp Cell Res , vol.266 , pp. 177-186
    • Söhl, G.1    Theis, M.2    Hallas, G.3    Brambach, S.4    Dahl, E.5    Kidder, G.6    Willecke, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.