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Volumn 4, Issue 6, 1995, Pages 975-981

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Author keywords

[No Author keywords available]

Indexed keywords

POLYPEPTIDE;

EID: 0029002475     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.6.975     Document Type: Article
Times cited : (142)

References (42)
  • 3
    • 0004265328 scopus 로고
    • Neurofibromatosis: Phenotype
    • Johns Hopkins University Press, Baltimore
    • Riccardi, V.M. (1992) Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Johns Hopkins University Press, Baltimore.
    • (1992) Natural History and Pathogenesis
    • Riccardi, V.M.1
  • 9
    • 0025909212 scopus 로고
    • Differential expression of two types of the neurofibromatosis type 1 (NFI) gene transcripts related to neuronal differentiation
    • Nishi, T., Lee, P., Oka, K., Levi, V., Tanase, S., Morino, Y. and Saya, H. (1991) Differential expression of two types of the neurofibromatosis type 1 (NFI) gene transcripts related to neuronal differentiation. Oncogene 6, 1555-1559.
    • (1991) Oncogene , vol.6 , pp. 1555-1559
    • Nishi, T.1    Lee, P.2    Oka, K.3    Levi, V.4    Tanase, S.5    Morino, Y.6    Saya, H.7
  • 10
    • 13344271588 scopus 로고
    • Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem. Biophys. Res
    • Suzuki, Y., Suzuki, H., Kayama, T., Yoshimoto, T. and Shibahara, S. (1991) Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem. Biophys. Res. Commun. 187, 984-990.
    • (1991) Commun , vol.187 , pp. 984-990
    • Suzuki, Y.1    Suzuki, H.2    Kayama, T.3    Yoshimoto, T.4    Shibahara, S.5
  • 13
    • 0025152970 scopus 로고
    • Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway
    • Buchberg, A., Cleveland, L.S., Jenkins, N.A. and Copeland, N.G. (1990) Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 347, 291-294.
    • (1990) Nature , vol.347 , pp. 291-294
    • Buchberg, A.1    Cleveland, L.S.2    Jenkins, N.A.3    Copeland, N.G.4
  • 14
    • 0025201012 scopus 로고
    • The NFI locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    • Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M. and Collins, F. (1990) The NFI locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63, 851-859.
    • (1990) Cell , vol.63 , pp. 851-859
    • Ballester, R.1    Marchuk, D.2    Boguski, M.3    Saulino, A.4    Letcher, R.5    Wigler, M.6    Collins, F.7
  • 16
    • 0025244911 scopus 로고
    • The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S.Cerevisiae
    • Xu, G., Lin, B., Tanaka, K., Dunn, D., Wood, D., Gesteland, R., White, R., Weiss, R. and Tamanoi, F. (1990) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S.cerevisiae. Cell 63, 835-841.
    • (1990) Cell , vol.63 , pp. 835-841
    • Xu, G.1    Lin, B.2    Tanaka, K.3    Dunn, D.4    Wood, D.5    Gesteland, R.6    White, R.7    Weiss, R.8    Tamanoi, F.9
  • 17
    • 0026521070 scopus 로고
    • Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients
    • Basil, T.N., Gutmann, D.H., Fletcher, J.A., Glover, T.W., Collins, F.S. and Downward, J. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356,713-715.
    • (1992) Nature , vol.356 , pp. 713-715
    • Basil, T.N.1    Gutmann, D.H.2    Fletcher, J.A.3    Glover, T.W.4    Collins, F.S.5    Downward, J.6
  • 18
    • 0026528368 scopus 로고
    • Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (Type 1) neurofibromatosis
    • DeClue, J.E., Papageorge, A.G., Fletcher, J.A., Diehl, S.R., Ratner, N., Vass, W.C. and Lowy, D.R. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69, 265-273.
    • (1992) Cell , vol.69 , pp. 265-273
    • Declue, J.E.1    Papageorge, A.G.2    Fletcher, J.A.3    Diehl, S.R.4    Ratner, N.5    Vass, W.C.6    Lowy, D.R.7
  • 19
    • 0028120348 scopus 로고
    • Molecular basis of neurofibromatosis type I (NF1): Mutation analysis and polymorphisms in the NF1 gene
    • Upadhayaya, M., Shaw, D.J. and Harper, P.S. (1994) Molecular basis of neurofibromatosis type I (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum. Mutat. 4, 83-101.
    • (1994) Hum. Mutat , vol.4 , pp. 83-101
    • Upadhayaya, M.1    Shaw, D.J.2    Harper, P.S.3
  • 21
    • 0024506157 scopus 로고
    • Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity
    • Sarkar, G. and Sommer, S.S. (1989) Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 244, 331-334.
    • (1989) Science , vol.244 , pp. 331-334
    • Sarkar, G.1    Sommer, S.S.2
  • 23
    • 0027493961 scopus 로고
    • Protein truncation test (PTT) for rapid detection of translation-terminating mutations
    • Roest, P.A.M., Roberts, R.G., Sugino, S., van Ommen, G-J. and den Dunnen, J.T. (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.A.M.1    Roberts, R.G.2    Sugino, S.3    Van Ommen, G.-J.4    Den Dunnen, J.T.5
  • 27
    • 0028834145 scopus 로고
    • A collaborative survey of 80 mutations in the BRCAl breast and ovarian cancer susceptibility gene
    • Shattuck-Eidens, D. (1995) A collaborative survey of 80 mutations in the BRCAl breast and ovarian cancer susceptibility gene. JAMA ITS, 535-541.
    • (1995) JAMA ITS , pp. 535-541
    • Shattuck-Eidens, D.1
  • 28
    • 0026506370 scopus 로고
    • J-globin nonsense mutation: Deficient accumulation of mRNA occurs despite normal cytoplasmic stability
    • Baserga, S.J. and Benz, E.J. Jr. (1992) J-globin nonsense mutation: Deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc. Natl Acad. Sci. USA 89, 2935-2939.
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 2935-2939
    • Baserga, S.J.1    Benz, E.J.2
  • 29
    • 0026322140 scopus 로고
    • Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
    • Hamosh, A., Trapnell, B.C., Zeitlin, P.L., Montrose-Rafizadeh, C., Rosenstein, B.J., Crystal, R.G. and Cutting, G.R. (1991) Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J. Clin. Invest. 88,1880-1885.
    • (1991) J. Clin. Invest , vol.88 , pp. 1880-1885
    • Hamosh, A.1    Trapnell, B.C.2    Zeitlin, P.L.3    Montrose-Rafizadeh, C.4    Rosenstein, B.J.5    Crystal, R.G.6    Cutting, G.R.7
  • 30
    • 0025064309 scopus 로고
    • A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by a polymerase chain reaction
    • Kadowaki, T., Kadowaki, H. and Taylor S.I. (1990) A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by a polymerase chain reaction. Proc. Nall Acad. Sci. USA 87, 658-662.
    • (1990) Proc. Nall Acad. Sci. USA , vol.87 , pp. 658-662
    • Kadowaki, T.1    Kadowaki, H.2    Taylor, S.I.3
  • 31
    • 0026755333 scopus 로고
    • Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy
    • Mashima, Y, Murakami, A., Weleber, R.G., Kennaway, N.G., Clarke, L., Shiono, T. and Inana, G. (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. Am. J. Hum. Genet. 51, 81-91.
    • (1992) Am. J. Hum. Genet , vol.51 , pp. 81-91
    • Mashima, Y.1    Murakami, A.2    Weleber, R.G.3    Kennaway, N.G.4    Clarke, L.5    Shiono, T.6    Inana, G.7
  • 33
    • 0027014233 scopus 로고
    • DNA structure, mutations, and human genetic disease
    • Sinden, R.R. and Wells, R.D. (1992) DNA structure, mutations, and human genetic disease. Curr. Opin. Biotechnol. 3, 612-622.
    • (1992) Curr. Opin. Biotechnol , vol.3 , pp. 612-622
    • Sinden, R.R.1    Wells, R.D.2
  • 34
    • 0028136599 scopus 로고
    • Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
    • Dietz, H.C. and Kendzior, R.J. Jr. (1994) Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat. Genet. 8, 183-188.
    • (1994) Nat. Genet , vol.8 , pp. 183-188
    • Dietz, H.C.1    Kendzior, R.J.2
  • 35
    • 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.M., Phuong, T.T., Matynia, A. and Neufeld, E.F. (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.M.2    Phuong, T.T.3    Matynia, A.4    Neufeld, E.F.5
  • 37
    • 0027958172 scopus 로고
    • The stop mutation R553X in the CFTR gene results in exon skipping
    • Hull, J., Shackleton, S. and 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
  • 38
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
    • Naylor, J.A., Green, P.M., Rizza, C.R. and Gianelli, 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.A.1    Green, P.M.2    Rizza, C.R.3    Gianelli, F.4
  • 39
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomzcynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159.
    • (1987) Anal. Biochem , vol.162 , pp. 156-159
    • Chomzcynski, P.1    Sacchi, N.2
  • 40
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids. Res. 16, 1215.
    • (1988) Nucleic Acids. Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 41
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1


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