메뉴 건너뛰기




Volumn 101, Issue 1, 1997, Pages 75-80

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; PROTEIN; TYROSINE;

EID: 0031439698     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050590     Document Type: Article
Times cited : (40)

References (38)
  • 1
    • 0027379866 scopus 로고
    • Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area
    • Bach G, Moskowitz S, Tieu P, Matynia A, Neufeld E (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53: 330-338
    • (1993) Am J Hum Genet , vol.53 , pp. 330-338
    • Bach, G.1    Moskowitz, S.2    Tieu, P.3    Matynia, A.4    Neufeld, E.5
  • 2
    • 0028125262 scopus 로고
    • Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life
    • Belgrader P, Cheng J, Zhou X, Stephenson L, Maquat L (1994) Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. Mol Cell Biol 14: 8219-8228
    • (1994) Mol Cell Biol , vol.14 , pp. 8219-8228
    • Belgrader, P.1    Cheng, J.2    Zhou, X.3    Stephenson, L.4    Maquat, L.5
  • 4
    • 0029894931 scopus 로고    scopus 로고
    • Identification of proteins that interact with exon sequences, splice sites and the branchpoint sequence during each stage of spliceosome assembly
    • Chiara M, Gozani O, Bennett M, Champion-Arnaud P, Palandjian L, Reed R (1996) Identification of proteins that interact with exon sequences, splice sites and the branchpoint sequence during each stage of spliceosome assembly. Mol Cell Biol 16: 3317-3326
    • (1996) Mol Cell Biol , vol.16 , pp. 3317-3326
    • Chiara, M.1    Gozani, O.2    Bennett, M.3    Champion-Arnaud, P.4    Palandjian, L.5    Reed, R.6
  • 6
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper D, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78: 151-155
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.1    Youssoufian, H.2
  • 7
    • 0008602492 scopus 로고
    • NF 1-related loci on chromosomes 2, 12, 14, 15, 20, 21 and 22: A potential role of gene conversion in the high spontaneous mutations rate of NF1?
    • Cummings L, Glatfelter A, Marchuk D (1993) NF 1-related loci on chromosomes 2, 12, 14, 15, 20, 21 and 22: a potential role of gene conversion in the high spontaneous mutations rate of NF1? Am J Hum Genet 53: 672A
    • (1993) Am J Hum Genet , vol.53
    • Cummings, L.1    Glatfelter, A.2    Marchuk, D.3
  • 9
    • 0024434201 scopus 로고
    • A nonsense mutation in the apolipoprotein C-II Padova gene in a patient with apolipoprotein C-II deficiency
    • Fojo S, Lohse P, Parrott V, Baggio G, Gabelli C, Thomas F, Hoffman J, Brewer H (1989) A nonsense mutation in the apolipoprotein C-II Padova gene in a patient with apolipoprotein C-II deficiency. J Clin Invest 84: 1215-1219
    • (1989) J Clin Invest , vol.84 , pp. 1215-1219
    • Fojo, S.1    Lohse, P.2    Parrott, V.3    Baggio, G.4    Gabelli, C.5    Thomas, F.6    Hoffman, J.7    Brewer, H.8
  • 10
    • 0029880743 scopus 로고    scopus 로고
    • Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms
    • Gasparini P, D'Agruma L, Pio de Cillis G, Balestrazzi P, Mingarelli R, Zelante L (1996) Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. Hum Genet 97: 492-495
    • (1996) Hum Genet , vol.97 , pp. 492-495
    • Gasparini, P.1    D'Agruma, L.2    Pio De Cillis, G.3    Balestrazzi, P.4    Mingarelli, R.5    Zelante, L.6
  • 15
    • 0029949681 scopus 로고    scopus 로고
    • Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8
    • Horn D, Robinson P, Böddrich A, Buske A, Tinschert S, Nürnberg P (1996) Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8. Electrophoresis 17: 1559-1563
    • (1996) Electrophoresis , vol.17 , pp. 1559-1563
    • Horn, D.1    Robinson, P.2    Böddrich, A.3    Buske, A.4    Tinschert, S.5    Nürnberg, P.6
  • 16
    • 0027958172 scopus 로고
    • The stop mutation R553X in the CFTR gene results in exon skipping
    • Hull J, Shackleton S, Harris A (1994) The stop mutation R553X in the CFTR gene results in exon skipping. Genomics 19: 362-364
    • (1994) Genomics , vol.19 , pp. 362-364
    • Hull, J.1    Shackleton, S.2    Harris, A.3
  • 17
    • 0029952565 scopus 로고    scopus 로고
    • Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2
    • Hulsebos T, Bijleveld E, Riegman P, Smink L, Dunham I (1996) Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2. Hum Genet 98: 7-11
    • (1996) Hum Genet , vol.98 , pp. 7-11
    • Hulsebos, T.1    Bijleveld, E.2    Riegman, P.3    Smink, L.4    Dunham, I.5
  • 19
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli U (1975) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685
    • (1975) Nature , vol.227 , pp. 680-685
    • Laemmli, U.1
  • 22
    • 0023260824 scopus 로고
    • Molecular basis for nondeletion α-thalassaemia in American blacks, a2 116.GAG-UAG
    • Liebhaber S, Coleman M, Adam J, Cash F, Steinberg M (1987) Molecular basis for nondeletion α-thalassaemia in American blacks, a2 116.GAG-UAG. J Clin Invest 80: 154-159
    • (1987) J Clin Invest , vol.80 , pp. 154-159
    • Liebhaber, S.1    Coleman, M.2    Adam, J.3    Cash, F.4    Steinberg, M.5
  • 23
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat L (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59: 279-286
    • (1996) Am J Hum Genet , vol.59 , pp. 279-286
    • Maquat, L.1
  • 25
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
    • Naylor J, Green P, Rizza C, Giannelli F (1993) Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 2: 11-17
    • (1993) Hum Mol Genet , vol.2 , pp. 11-17
    • Naylor, J.1    Green, P.2    Rizza, C.3    Giannelli, F.4
  • 26
    • 0029855572 scopus 로고    scopus 로고
    • A novel nonsense mutation associated with an exon skipping in a patient with hereditary Protein S deficiency Type I
    • Okamoto Y, Yamazaki T, Katsumo A, Kojima T, Takamatsu J, Nishida M, Saito H (1996) A novel nonsense mutation associated with an exon skipping in a patient with hereditary Protein S deficiency Type I. Thromb Haemost 75: 877-882
    • (1996) Thromb Haemost , vol.75 , pp. 877-882
    • Okamoto, Y.1    Yamazaki, T.2    Katsumo, A.3    Kojima, T.4    Takamatsu, J.5    Nishida, M.6    Saito, H.7
  • 27
    • 0028359659 scopus 로고
    • Characterisation of inherited and sporadic mutations in neurofibromatosis type-1
    • Purandare S, Lanyon WG, Connor JM (1994) Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. Hum Mol Genet 3: 1109-1115
    • (1994) Hum Mol Genet , vol.3 , pp. 1109-1115
    • Purandare, S.1    Lanyon, W.G.2    Connor, J.M.3
  • 28
    • 0029036382 scopus 로고
    • Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene
    • Robinson P, Böddrich A, Peters H, Tinschert S, Buske A, Kaufman D, Nürnberg P (1995) Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. Hum Genet 96: 95-98
    • (1995) Hum Genet , vol.96 , pp. 95-98
    • Robinson, P.1    Böddrich, A.2    Peters, H.3    Tinschert, S.4    Buske, A.5    Kaufman, D.6    Nürnberg, P.7
  • 29
    • 0027493961 scopus 로고
    • Protein truncation test (PTT) for rapid detection of translation-terminating mutations
    • Roest P, Roberts R, Sugino S, Ommen GJ Van, Dunnen J Den (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 2: 1719-1721
    • (1993) Hum Mol Genet , vol.2 , pp. 1719-1721
    • Roest, P.1    Roberts, R.2    Sugino, S.3    Van Ommen, G.J.4    Den, D.J.5
  • 30
    • 0028806224 scopus 로고
    • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: Implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
    • Santisteban I, Arredondo-Vega F, Kelly S, Loubser M, Meydan N, Roifman C, Howell P, Bowen T, Weinberg K, Schroeder M, Hershfield M (1995) Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum Mol Genet 11: 2081-2087
    • (1995) Hum Mol Genet , vol.11 , pp. 2081-2087
    • Santisteban, I.1    Arredondo-Vega, F.2    Kelly, S.3    Loubser, M.4    Meydan, N.5    Roifman, C.6    Howell, P.7    Bowen, T.8    Weinberg, K.9    Schroeder, M.10    Hershfield, M.11
  • 31
    • 0026607344 scopus 로고
    • Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
    • Steingrimsdottir H, Rowley G, Dorado G, Cole J, Lehmann A (1992) Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. Nucleic Acids Res 20: 1201-1208
    • (1992) Nucleic Acids Res , vol.20 , pp. 1201-1208
    • Steingrimsdottir, H.1    Rowley, G.2    Dorado, G.3    Cole, J.4    Lehmann, A.5
  • 33
    • 0029833969 scopus 로고    scopus 로고
    • Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene
    • Upadhyaya M, Osborn M, Maynard J, Harper P (1996) Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. Am J Hum Genet 67: 421-423
    • (1996) Am J Hum Genet , vol.67 , pp. 421-423
    • Upadhyaya, M.1    Osborn, M.2    Maynard, J.3    Harper, P.4
  • 34
    • 0028293313 scopus 로고
    • Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)
    • Valero M, Velasco E, Moreno F, Hernnandez-Chico C (1994) Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). Hum Mol Genet 3: 639-641
    • (1994) Hum Mol Genet , vol.3 , pp. 639-641
    • Valero, M.1    Velasco, E.2    Moreno, F.3    Hernnandez-Chico, C.4
  • 35
    • 0025369709 scopus 로고
    • Deletion and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • Viskochil D, Buchberg A, Xu G, Cawthon R, Stevens J (1990) Deletion and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192
    • (1990) Cell , vol.62 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.2    Xu, G.3    Cawthon, R.4    Stevens, J.5
  • 37
    • 0027288912 scopus 로고
    • The role of exon sequences in splice site selection
    • Watakabe A, Tanaka K, Shimura Y (1993) The role of exon sequences in splice site selection. Genes Dev 7: 407-418
    • (1993) Genes Dev , vol.7 , pp. 407-418
    • Watakabe, A.1    Tanaka, K.2    Shimura, Y.3
  • 38
    • 0028204545 scopus 로고
    • A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis
    • Will K, Dork T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmeler B, Schmidtke J (1994) A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. J Clin Invest 93: 1852-1859
    • (1994) J Clin Invest , vol.93 , pp. 1852-1859
    • Will, K.1    Dork, T.2    Stuhrmann, M.3    Meitinger, T.4    Bertele-Harms, R.5    Tümmeler, B.6    Schmidtke, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.