메뉴 건너뛰기




Volumn 373, Issue 4, 2008, Pages 515-520

Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions

Author keywords

Exon splicing enhancer; Intron inclusive cDNA (Intinc) expression system; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

MESSENGER RNA; PHENYLALANINE 4 MONOOXYGENASE;

EID: 50949116939     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.06.072     Document Type: Article
Times cited : (8)

References (20)
  • 1
    • 42449098125 scopus 로고    scopus 로고
    • Splicing regulation: from a parts list of regulatory elements to an integrated splicing code
    • Wang Z., and Burge C.B. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14 (2008) 802-813
    • (2008) RNA , vol.14 , pp. 802-813
    • Wang, Z.1    Burge, C.B.2
  • 2
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: exonic mutations that affect splicing
    • Cartegni L., Chew S.L., and Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3 (2002) 285-298
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 3
    • 0035122522 scopus 로고    scopus 로고
    • A silent mutation induced exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
    • Chao H.K., Hsiao K.J., and Su T.S. A silent mutation induced exon skipping in the phenylalanine hydroxylase gene in phenylketonuria. Hum. Genet. 108 (2001) 14-19
    • (2001) Hum. Genet. , vol.108 , pp. 14-19
    • Chao, H.K.1    Hsiao, K.J.2    Su, T.S.3
  • 4
    • 0036524046 scopus 로고    scopus 로고
    • Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene
    • Chen K.J., Chao H.K., Hsiao K.J., and Su T.S. Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. Hum. Genet. 110 (2002) 235-243
    • (2002) Hum. Genet. , vol.110 , pp. 235-243
    • Chen, K.J.1    Chao, H.K.2    Hsiao, K.J.3    Su, T.S.4
  • 5
    • 0027355636 scopus 로고
    • The phenylalanine hydroxylating system
    • Kaufman S. The phenylalanine hydroxylating system. Adv. Enzymol. 67 (1993) 77-264
    • (1993) Adv. Enzymol. , vol.67 , pp. 77-264
    • Kaufman, S.1
  • 6
    • 0032479302 scopus 로고    scopus 로고
    • Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria
    • Fusetti F., Erlandsen H., Flatmark T., and Stevens R.C. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J. Biol. Chem. 273 (1998) 16962-16967
    • (1998) J. Biol. Chem. , vol.273 , pp. 16962-16967
    • Fusetti, F.1    Erlandsen, H.2    Flatmark, T.3    Stevens, R.C.4
  • 7
    • 0031606734 scopus 로고    scopus 로고
    • In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function
    • Waters P.J., Parniak M.A., Nowacki P., and Scriver C.R. In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum. Mutat. 11 (1998) 4-17
    • (1998) Hum. Mutat. , vol.11 , pp. 4-17
    • Waters, P.J.1    Parniak, M.A.2    Nowacki, P.3    Scriver, C.R.4
  • 8
    • 0031028927 scopus 로고    scopus 로고
    • Phenylketonuria splice mutation (EXON6nt-96A → g) masquerading as missense mutation (Y204C)
    • Ellingsen S., Knappskog P.M., and Eiken H.G. Phenylketonuria splice mutation (EXON6nt-96A → g) masquerading as missense mutation (Y204C). Hum. Mutat. 9 (1997) 88-90
    • (1997) Hum. Mutat. , vol.9 , pp. 88-90
    • Ellingsen, S.1    Knappskog, P.M.2    Eiken, H.G.3
  • 10
    • 0030988942 scopus 로고    scopus 로고
    • Identification of a new class of exonic splicing enhancers by in vivo selection
    • Coulter L.R., Landree M.A., and Cooper T.A. Identification of a new class of exonic splicing enhancers by in vivo selection. Mol. Cell. Biol. 17 (1997) 2143-2150
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2143-2150
    • Coulter, L.R.1    Landree, M.A.2    Cooper, T.A.3
  • 11
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L., and Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30 (2002) 377-384
    • (2002) Nat. Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 12
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu H.X., Cartegni L., Zhang M.Q., and Krainer A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet. 27 (2001) 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
    • 10844221615 scopus 로고    scopus 로고
    • Disruption of exonic splicing enhancer elements is the principle cause of exon skipping associated with seven nonsense or missense alleles of NF1
    • Zatkova A., Messiaen L., Vandenbroucke I., Wieser R., Fonatsch C., Krainer A.R., and Wimmer K. Disruption of exonic splicing enhancer elements is the principle cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum. Mutat. 24 (2004) 491-501
    • (2004) Hum. Mutat. , vol.24 , pp. 491-501
    • Zatkova, A.1    Messiaen, L.2    Vandenbroucke, I.3    Wieser, R.4    Fonatsch, C.5    Krainer, A.R.6    Wimmer, K.7
  • 14
    • 0019966544 scopus 로고
    • Growth of human hepatoma cell lines with differentiated functions in chemically defined medium
    • Nakabayashi H., Taketa K., Miyano K., Yamane T., and Sato J. Growth of human hepatoma cell lines with differentiated functions in chemically defined medium. Cancer Res. 42 (1982) 3858-3863
    • (1982) Cancer Res. , vol.42 , pp. 3858-3863
    • Nakabayashi, H.1    Taketa, K.2    Miyano, K.3    Yamane, T.4    Sato, J.5
  • 16
  • 17
    • 0037047644 scopus 로고    scopus 로고
    • Predictive identification of exonic splicing enhancers in human genes
    • Fairbrother W.G., Yeh R.F., Sharp P.A., and Burge C.B. Predictive identification of exonic splicing enhancers in human genes. Science 297 (2002) 1007-1013
    • (2002) Science , vol.297 , pp. 1007-1013
    • Fairbrother, W.G.1    Yeh, R.F.2    Sharp, P.A.3    Burge, C.B.4
  • 18
    • 2642525438 scopus 로고    scopus 로고
    • Computational definition of sequence motifs governing constitutive exon splicing
    • Zhang X.H., and Chasin L.A. Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev. 18 (2004) 1241-1250
    • (2004) Genes Dev. , vol.18 , pp. 1241-1250
    • Zhang, X.H.1    Chasin, L.A.2
  • 20
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: lessons from phenylketonuria
    • Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15 (1999) 267-272
    • (1999) Trends Genet. , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.