-
1
-
-
42449098125
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
9
-
-
13044250476
-
Sequence-tagged connectors: a sequence approach to mapping and scanning the human genome
-
Mahairas G.G., Wallace J.C., Smith K., Swartzell S., Holzman T., Keller A., Shaker R., Furlong J., Young J., Zhao S., Adams M.D., and Hood L. Sequence-tagged connectors: a sequence approach to mapping and scanning the human genome. Proc. Natl. Acad. Sci. USA 96 (1999) 9739-9744
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 9739-9744
-
-
Mahairas, G.G.1
Wallace, J.C.2
Smith, K.3
Swartzell, S.4
Holzman, T.5
Keller, A.6
Shaker, R.7
Furlong, J.8
Young, J.9
Zhao, S.10
Adams, M.D.11
Hood, L.12
-
10
-
-
0030988942
-
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
-
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
-
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
-
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
-
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
-
-
0042242582
-
ESEfinder: a web resource to identify exonic splicing enhancers
-
Cartegni L., Wang J., Zhu Z., Zhang M.Q., and Krainer A.R. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31 (2003) 3568-3571
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
17
-
-
0037047644
-
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
-
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
-
19
-
-
33846504706
-
A "silent" polymorphism in the MDR1 gene changes substrate specificity
-
Kimchi-Sarfaty C., Oh J.M., Kim I.W., Sauna Z.E., Calcagno A.M., Ambudkar S.V., and Gottesman M.M. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315 (2007) 525-528
-
(2007)
Science
, vol.315
, pp. 525-528
-
-
Kimchi-Sarfaty, C.1
Oh, J.M.2
Kim, I.W.3
Sauna, Z.E.4
Calcagno, A.M.5
Ambudkar, S.V.6
Gottesman, M.M.7
-
20
-
-
0033168957
-
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
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