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Volumn 110, Issue 5, 2002, Pages 495-502

RT-PCR splicing analysis of the NF1 open reading frame

Author keywords

[No Author keywords available]

Indexed keywords

EDETIC ACID; ISOPROTEIN; RNA;

EID: 0036590139     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0714-6     Document Type: Article
Times cited : (26)

References (32)
  • 2
    • 0027395503 scopus 로고
    • A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene products two neurofibromin isoforms, both of which have GTPase-activating protein activity
    • Andersen LB, Ballester R, Marchuk DA, Chang E, Gutman DH, Saulino AM, Camonis J, Wigler M, Collins FS (1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene products two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol 13:487-495
    • (1993) Mol Cell Biol , vol.13 , pp. 487-495
    • Andersen, L.B.1    Ballester, R.2    Marchuk, D.A.3    Chang, E.4    Gutman, D.H.5    Saulino, A.M.6    Camonis, J.7    Wigler, M.8    Collins, F.S.9
  • 3
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X (2000a) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9:237-247
    • (2000) Hum Mol Genet , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3    Kruyer, H.4    Gaona, A.5    Lazaro, C.6    Estivill, X.7
  • 4
    • 0034653768 scopus 로고    scopus 로고
    • Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA
    • Ars E, Serra E, De La Luna S, Estivill X, Lazaro C (2000b) Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res 28:1307-1312
    • (2000) Nucleic Acids Res , vol.28 , pp. 1307-1312
    • Ars, E.1    Serra, E.2    De La Luna, S.3    Estivill, X.4    Lazaro, C.5
  • 5
    • 0030745835 scopus 로고    scopus 로고
    • Four frameshift mutations in neurofibromatosis type 1 caused by small insertions
    • Colman SD, Abernathy CR, Ho VT, Wallace MR (1997) Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. J Med Genet 34:579-581
    • (1997) J Med Genet , vol.34 , pp. 579-581
    • Colman, S.D.1    Abernathy, C.R.2    Ho, V.T.3    Wallace, M.R.4
  • 6
    • 0029060437 scopus 로고
    • Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene
    • Danglot G, Regnier V, Fauvet D, Vassal G, Kujas M, Bernheim A (1995) Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene. Hum Mol Genet 4:915-920
    • (1995) Hum Mol Genet , vol.4 , pp. 915-920
    • Danglot, G.1    Regnier, V.2    Fauvet, D.3    Vassal, G.4    Kujas, M.5    Bernheim, A.6
  • 9
    • 0027209850 scopus 로고
    • An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle
    • Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS (1993) An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 2:989-992
    • (1993) Hum Mol Genet , vol.2 , pp. 989-992
    • Gutmann, D.H.1    Andersen, L.B.2    Cole, J.L.3    Swaroop, M.4    Collins, F.S.5
  • 12
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu HX, Cartegni L, Zhang MQ, Krainer AR (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27:55-58
    • (2001) Nat Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 13
    • 0023258542 scopus 로고
    • DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA
    • Madison L, Hoar D, Holroyd C, Crisp M, Hodes M (1987) DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 27:379-390
    • (1987) Am J Med Genet , vol.27 , pp. 379-390
    • Madison, L.1    Hoar, D.2    Holroyd, C.3    Crisp, M.4    Hodes, M.5
  • 14
    • 0031439698 scopus 로고    scopus 로고
    • Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
    • Messiaen L, Callens T, De Paepe A, Craen M, Mortier G (1997) Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. Hum Genet 101:75-80
    • (1997) Hum Genet , vol.101 , pp. 75-80
    • Messiaen, L.1    Callens, T.2    De Paepe, A.3    Craen, M.4    Mortier, G.5
  • 15
    • 0033188212 scopus 로고    scopus 로고
    • Exon 10b of the NF1 gene represents a mutational hot spot and harbors a missense mutation Y489C associated with aberrant splicing in unrelated patients
    • Messiaen L, Callens T, Roux K, Mortier G, DePaepe A, Abramowicz M, Pericak-Vance M, Vance J, Wallace M (1999) Exon 10b of the NF1 gene represents a mutational hot spot and harbors a missense mutation Y489C associated with aberrant splicing in unrelated patients. Genet Med 1:248-253
    • (1999) Genet Med , vol.1 , pp. 248-253
    • Messiaen, L.1    Callens, T.2    Roux, K.3    Mortier, G.4    Depaepe, A.5    Abramowicz, M.6    Pericak-Vance, M.7    Vance, J.8    Wallace, M.9
  • 16
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541-555
    • (2000) Hum Mutat , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    Paepe, A.D.8
  • 17
    • 0035133870 scopus 로고    scopus 로고
    • Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells
    • Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR (2001) Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. Am J Pathol 158:501-513
    • (2001) Am J Pathol , vol.158 , pp. 501-513
    • Muir, D.1    Neubauer, D.2    Lim, I.T.3    Yachnis, A.T.4    Wallace, M.R.5
  • 18
    • 0031657522 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients
    • Park VM, Pivnick EK (1998) Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet 35:813-820
    • (1998) J Med Genet , vol.35 , pp. 813-820
    • Park, V.M.1    Pivnick, E.K.2
  • 19
    • 0031782618 scopus 로고    scopus 로고
    • Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene
    • Park VM, Kenwright KA, Sturtevant DB, Pivnick EK (1998) Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet 103:382-385
    • (1998) Hum Genet , vol.103 , pp. 382-385
    • Park, V.M.1    Kenwright, K.A.2    Sturtevant, D.B.3    Pivnick, E.K.4
  • 20
    • 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 PN, Boddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nurnberg 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.N.1    Boddrich, A.2    Peters, H.3    Tinschert, S.4    Buske, A.5    Kaufmann, D.6    Nurnberg, P.7
  • 21
    • 0034639937 scopus 로고    scopus 로고
    • Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
    • Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E (2000) Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet 9:1059-1066
    • (2000) Hum Mol Genet , vol.9 , pp. 1059-1066
    • Rutkowski, J.L.1    Wu, K.2    Gutmann, D.H.3    Boyer, P.J.4    Legius, E.5
  • 22
    • 0034642298 scopus 로고    scopus 로고
    • Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two different Schwann cell subpopulations
    • Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lazaro C (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two different Schwann cell subpopulations. Hum Mol Genet 9:3055-3064
    • (2000) Hum Mol Genet , vol.9 , pp. 3055-3064
    • Serra, E.1    Rosenbaum, T.2    Winner, U.3    Aledo, R.4    Ars, E.5    Estivill, X.6    Lenard, H.G.7    Lazaro, C.8
  • 23
    • 0030725216 scopus 로고    scopus 로고
    • Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker musuclar dystrophy
    • Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M (1997) Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker musuclar dystrophy. J Clin Invest 100:2204-2210
    • (1997) J Clin Invest , vol.100 , pp. 2204-2210
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3    Inoue, K.4    Yokota, Y.5    Yokoyama, M.6    Matsuo, M.7
  • 26
    • 0033605449 scopus 로고    scopus 로고
    • Neurofibromatosis 1
    • Viskochil D (1999) Neurofibromatosis 1. Am J Med Genet 89:5-8
    • (1999) Am J Med Genet , vol.89 , pp. 5-8
    • Viskochil, D.1
  • 27
    • 0033912292 scopus 로고    scopus 로고
    • Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene
    • Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W (2000) Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet 66:356-367
    • (2000) Am J Hum Genet , vol.66 , pp. 356-367
    • Vockley, J.1    Rogan, P.K.2    Anderson, B.D.3    Willard, J.4    Seelan, R.S.5    Smith, D.I.6    Liu, W.7
  • 28
  • 31
    • 0034219209 scopus 로고    scopus 로고
    • Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients
    • Wimmer K, Eckart M, Stadler PF, Rehder H, Fonatsch C (2000a) Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients. Hum Mutat 16:90-91
    • (2000) Hum Mutat , vol.16 , pp. 90-91
    • Wimmer, K.1    Eckart, M.2    Stadler, P.F.3    Rehder, H.4    Fonatsch, C.5
  • 32
    • 0034112646 scopus 로고    scopus 로고
    • Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
    • Wimmer K, Eckart M, Rehder H, Fonatsch C (2000b) Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients. Hum Genet 106:311-313
    • (2000) Hum Genet , vol.106 , pp. 311-313
    • Wimmer, K.1    Eckart, M.2    Rehder, H.3    Fonatsch, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.