-
1
-
-
0017695082
-
Polymorphic hydroxylation of debrisoquine in man
-
Mahgoub A, Idle JR, Dring LG, Lancaster R, Smith RL. Polymorphic hydroxylation of debrisoquine in man. Lancet 1977; 1:584-586.
-
(1977)
Lancet
, vol.1
, pp. 584-586
-
-
Mahgoub, A.1
Idle, J.R.2
Dring, L.G.3
Lancaster, R.4
Smith, R.L.5
-
3
-
-
0026506140
-
Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylations of debrisoquin and S-mephenytoin
-
Bertilsson L, Lou Y-Q, Du Y-L, Liu Y, Kuang T-Y, Liao X-M, et al. Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylations of debrisoquin and S-mephenytoin. Clin Pharmacol Ther 1992; 51:388-397.
-
(1992)
Clin Pharmacol Ther
, vol.51
, pp. 388-397
-
-
Bertilsson, L.1
Lou, Y.-Q.2
Du, Y.-L.3
Liu, Y.4
Kuang, T.-Y.5
Liao, X.-M.6
-
4
-
-
0021237993
-
Pharmacogenetics of mephenytoin: A new drug hydroxylation polymorphism in man
-
Küpfer A, Preisig R. Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man. Eur J Clin Pharmacol 1984; 26:753-759.
-
(1984)
Eur J Clin Pharmacol
, vol.26
, pp. 753-759
-
-
Küpfer, A.1
Preisig, R.2
-
5
-
-
0028590127
-
Biochemistry and molecular biology of the human CYP2C subfamily
-
Goldstein JA, de Morais SMF. Biochemistry and molecular biology of the human CYP2C subfamily. Pharmacogenetics 1994; 4:285-299.
-
(1994)
Pharmacogenetics
, vol.4
, pp. 285-299
-
-
Goldstein, J.A.1
De Morais, S.M.F.2
-
6
-
-
0033569516
-
Pharmacogenomics: Translating functional genomics into rational therapeutics
-
Evans WE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999; 286:487-491.
-
(1999)
Science
, vol.286
, pp. 487-491
-
-
Evans, W.E.1
Relling, M.V.2
-
7
-
-
0035071598
-
Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
-
Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J, et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nature Genet 2001; 27:383-391.
-
(2001)
Nature Genet
, vol.27
, pp. 383-391
-
-
Kuehl, P.1
Zhang, J.2
Lin, Y.3
Lamba, J.4
Assem, M.5
Schuetz, J.6
-
8
-
-
0030860004
-
Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: Characterization of 48 mutations and 53 alleles, their frequencies and evolution
-
Marez D, Legrand M, Sabbagh N, Lo Guidice J-M, Spire C, Lafitte J-J, et al. Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics 1997; 7:193-202.
-
(1997)
Pharmacogenetics
, vol.7
, pp. 193-202
-
-
Marez, D.1
Legrand, M.2
Sabbagh, N.3
Lo Guidice, J.-M.4
Spire, C.5
Lafitte, J.-J.6
-
9
-
-
0031038038
-
Cytochrome P450 2D6 variants in a Caucasian population: Allele frequencies and phenotypic consequences
-
Sachse C, Brockmöller J, Bauer S, Roots I. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet 1997; 60:284-295.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 284-295
-
-
Sachse, C.1
Brockmöller, J.2
Bauer, S.3
Roots, I.4
-
10
-
-
0031884233
-
Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population
-
Griese E-U, Zanger U, Brudermanns U, Gaedigk A, Mikus G, Mörike K, et al. Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population. Pharmacogenetics 1998; 8:15-26.
-
(1998)
Pharmacogenetics
, vol.8
, pp. 15-26
-
-
Griese, E.-U.1
Zanger, U.2
Brudermanns, U.3
Gaedigk, A.4
Mikus, G.5
Mörike, K.6
-
11
-
-
0033461165
-
Optimization of cytochrome P450 2D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data
-
Gaedigk A, Gotschall RR, Forbes NS, Simon SD, Kearns GL, Leeder JS. Optimization of cytochrome P450 2D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics 1999; 9:669-682.
-
(1999)
Pharmacogenetics
, vol.9
, pp. 669-682
-
-
Gaedigk, A.1
Gotschall, R.R.2
Forbes, N.S.3
Simon, S.D.4
Kearns, G.L.5
Leeder, J.S.6
-
12
-
-
0028826569
-
A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype
-
Marez D, Sabbagh N, Legrand M, Lo Guidice JM, Boone P, Broly F. A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype. Pharmacogenetics 1995; 5:305-311.
-
(1995)
Pharmacogenetics
, vol.5
, pp. 305-311
-
-
Marez, D.1
Sabbagh, N.2
Legrand, M.3
Lo Guidice, J.M.4
Boone, P.5
Broly, F.6
-
13
-
-
0028260641
-
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans
-
de Morais SMF, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem 1994; 269:15419-15422.
-
(1994)
J Biol Chem
, vol.269
, pp. 15419-15422
-
-
De Morais, S.M.F.1
Wilkinson, G.R.2
Blaisdell, J.3
Nakamura, K.4
Meyer, U.A.5
Goldstein, J.A.6
-
14
-
-
0032797302
-
A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin
-
Ibeanu GC, Blaisdell J, Ferguson RJ, Ghanayem BI, Brøsen K, Benhamou S, et al. A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin. J Pharmacol Exp Ther 1999; 290:635-640.
-
(1999)
J Pharmacol Exp Ther
, vol.290
, pp. 635-640
-
-
Ibeanu, G.C.1
Blaisdell, J.2
Ferguson, R.J.3
Ghanayem, B.I.4
Brøsen, K.5
Benhamou, S.6
-
15
-
-
0028865992
-
A multifamily study on the relationship between CYP2C19 genotype and S-mephenytoin oxidation phenotype
-
Brøsen K, de Morais SMF, Meyer UA, Goldstein JA. A multifamily study on the relationship between CYP2C19 genotype and S-mephenytoin oxidation phenotype. Pharmacogenetics 1995; 5:312-317.
-
(1995)
Pharmacogenetics
, vol.5
, pp. 312-317
-
-
Brøsen, K.1
De Morais, S.M.F.2
Meyer, U.A.3
Goldstein, J.A.4
-
16
-
-
0032868321
-
Phenotypes and genotypes for CYP2D6 and CYP2C19 in a black Tanzanian population
-
Bathum L, Skjelbo E, Mutagingwa TK, Madsen H, Hørder M, Brøsen K. Phenotypes and genotypes for CYP2D6 and CYP2C19 in a black Tanzanian population. Br J Clin Pharmacol 1999; 48:395-401.
-
(1999)
Br J Clin Pharmacol
, vol.48
, pp. 395-401
-
-
Bathum, L.1
Skjelbo, E.2
Mutagingwa, T.K.3
Madsen, H.4
Hørder, M.5
Brøsen, K.6
-
17
-
-
2042431033
-
Phenotypic-genotypic analysis of CYP2C19 in the Jewish Israeli population
-
Sviri S, Shpizen S, Leitersdorf E, Levy M, Caraco Y. Phenotypic-genotypic analysis of CYP2C19 in the Jewish Israeli population. Clin Pharmacol Ther 1999; 65:275-282.
-
(1999)
Clin Pharmacol Ther
, vol.65
, pp. 275-282
-
-
Sviri, S.1
Shpizen, S.2
Leitersdorf, E.3
Levy, M.4
Caraco, Y.5
-
18
-
-
17744397194
-
Genomic organization of the human CYP3A locus: Identification of a new inducible CYP3A gene
-
Gellner K, Eiselt R, Hustert E, Arnold H, Koch I, Haberl M, et al. Genomic organization of the human CYP3A locus: identification of a new inducible CYP3A gene. Pharmacogenetics 2001; 11:111-121.
-
(2001)
Pharmacogenetics
, vol.11
, pp. 111-121
-
-
Gellner, K.1
Eiselt, R.2
Hustert, E.3
Arnold, H.4
Koch, I.5
Haberl, M.6
-
19
-
-
0034874776
-
Genetic polymorphism of cytochrome P450 3A5 in Chinese
-
Chou F-C, Tzeng S-J, Huang J-D. Genetic polymorphism of cytochrome P450 3A5 in Chinese. Drug Metab Disp 2001; 29:1205-1209.
-
(2001)
Drug Metab Disp
, vol.29
, pp. 1205-1209
-
-
Chou, F.-C.1
Tzeng, S.-J.2
Huang, J.-D.3
-
20
-
-
0023854270
-
Characterization of the common genetic defect in humans deficient in debrisoquine metabolism
-
Gonzalez FJ, Skoda RC, Kimura S, Umeno M, Zanger UM, Nebert DW, et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 1988; 331:442-446.
-
(1988)
Nature
, vol.331
, pp. 442-446
-
-
Gonzalez, F.J.1
Skoda, R.C.2
Kimura, S.3
Umeno, M.4
Zanger, U.M.5
Nebert, D.W.6
-
21
-
-
0031583033
-
Information content of individual genetic sequences
-
Schneider TD. Information content of individual genetic sequences. J Theoret Biol 1997; 189:427-441.
-
(1997)
J Theoret Biol
, vol.189
, pp. 427-441
-
-
Schneider, T.D.1
-
22
-
-
0030658850
-
Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences
-
Schneider TD. Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. Nucl Acids Res 1997; 25:4408-4415.
-
(1997)
Nucl Acids Res
, vol.25
, pp. 4408-4415
-
-
Schneider, T.D.1
-
23
-
-
0028895417
-
Exon recognition in vertebrate splicing
-
Berget SM. Exon recognition in vertebrate splicing. J Biol Chem 1995; 270:2411-2414.
-
(1995)
J Biol Chem
, vol.270
, pp. 2411-2414
-
-
Berget, S.M.1
-
24
-
-
0029009677
-
Using informatrion content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
-
Rogan PK, Schneider TD. Using informatrion content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites. Hum Mutat 1995; 6:74-76.
-
(1995)
Hum Mutat
, vol.6
, pp. 74-76
-
-
Rogan, P.K.1
Schneider, T.D.2
-
25
-
-
0032540879
-
Organization of the ABCR gene: Analysis of promoter and splice junction sequences
-
Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J, Rogan RK, et al. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 1998; 215:111-122.
-
(1998)
Gene
, vol.215
, pp. 111-122
-
-
Allikmets, R.1
Wasserman, W.W.2
Hutchinson, A.3
Smallwood, P.4
Nathans, J.5
Rogan, R.K.6
-
26
-
-
0032561116
-
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the A3/A1-crystallin gene
-
Kannabiran C, Rogan PK, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the A3/A1-crystallin gene. Mol Vision 1998; 4:21-26.
-
(1998)
Mol Vision
, vol.4
, pp. 21-26
-
-
Kannabiran, C.1
Rogan, P.K.2
Basti, S.3
Rao, G.N.4
Kaiser-Kupfer, M.5
Hejtmancik, J.F.6
-
27
-
-
0032212402
-
Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum
-
O'Neill JP, Rogan PK, Cariello N, Nicklas JA. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum. Mutation Res 1998; 411:179-214.
-
(1998)
Mutation Res
, vol.411
, pp. 179-214
-
-
O'Neill, J.P.1
Rogan, P.K.2
Cariello, N.3
Nicklas, J.A.4
-
28
-
-
0031880376
-
Information analysis of human splice site mutations
-
Rogan PK, Faux BM, Schneider TD. Information analysis of human splice site mutations. Hum Mutat 1998; 12:153-171.
-
(1998)
Hum Mutat
, vol.12
, pp. 153-171
-
-
Rogan, P.K.1
Faux, B.M.2
Schneider, T.D.3
-
29
-
-
0033578466
-
Splice-site mutations in atherosclerosis candidate genes. Relating individual information to phenotype
-
von Kodolitsch Y, Pyeritz RE, Rogan PK. Splice-site mutations in atherosclerosis candidate genes. Relating individual information to phenotype. Circulation 1999; 100:693-699.
-
(1999)
Circulation
, vol.100
, pp. 693-699
-
-
Von Kodolitsch, Y.1
Pyeritz, R.E.2
Rogan, P.K.3
-
30
-
-
0033857118
-
Redundant designations of BRCA1 intron 11 splicing mutation
-
Svojanovsky SR, Schneider TD, Rogan PK. Redundant designations of BRCA1 intron 11 splicing mutation. Hum Mut 2000; 16:264.
-
(2000)
Hum Mut
, vol.16
, pp. 264
-
-
Svojanovsky, S.R.1
Schneider, T.D.2
Rogan, P.K.3
-
31
-
-
0033912292
-
An unusually high frequency of abnormal splicing of IVD RNA in isovaleric acidemia, including exon skipping caused by missense mutations in the IVD gene
-
Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, et al. An unusually high frequency of abnormal splicing of IVD RNA in isovaleric acidemia, including exon skipping caused by missense mutations in the IVD gene. Am J Hum Genet 2000; 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
-
32
-
-
0024796958
-
The human debrisoquine 4-hydroxylase (CYP2D) locus: Sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene
-
Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 1989; 45:889-904.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 889-904
-
-
Kimura, S.1
Umeno, M.2
Skoda, R.C.3
Meyer, U.A.4
Gonzalez, F.J.5
-
33
-
-
0025243460
-
1934>A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site
-
1934>A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site. Am J Hum Genet 1990; 47:994-1001.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 994-1001
-
-
Hanioka, N.1
Kimura, S.2
Meyer, U.A.3
Gonzalez, F.J.4
-
34
-
-
0027054380
-
Features of splicesome evolution and function inferred from an analysis of information at human splice sites
-
Stephens RM, Schneider TD. Features of splicesome evolution and function inferred from an analysis of information at human splice sites. J Mol Biol 1992; 228:1124-1136.
-
(1992)
J Mol Biol
, vol.228
, pp. 1124-1136
-
-
Stephens, R.M.1
Schneider, T.D.2
-
35
-
-
0026629691
-
Evolution of highly polymorphic human cytochrome P450 gene cluster: CYP2D6
-
Heim MH, Meyer UA. Evolution of highly polymorphic human cytochrome P450 gene cluster: CYP2D6. Genomics 1992; 14:49-58.
-
(1992)
Genomics
, vol.14
, pp. 49-58
-
-
Heim, M.H.1
Meyer, U.A.2
-
36
-
-
0037102580
-
The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
-
Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, et al. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucl Acids Res 2002; 30:3624-3631.
-
(2002)
Nucl Acids Res
, vol.30
, pp. 3624-3631
-
-
Khan, S.G.1
Muniz-Medina, V.2
Shahlavi, T.3
Baker, C.C.4
Inui, H.5
Ueda, T.6
-
37
-
-
0028366003
-
Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites
-
Hall SL, Padgett RA. Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites. J Mol Biol 1994; 239:357-365.
-
(1994)
J Mol Biol
, vol.239
, pp. 357-365
-
-
Hall, S.L.1
Padgett, R.A.2
-
38
-
-
0036606302
-
Splice variants but not mutations of DNA polymerase b are common in bladder cancer
-
Thompson TE, Rogan PK, Risinger JI, Taylor JA. Splice variants but not mutations of DNA polymerase b are common in bladder cancer. Cancer Res 2002; 62:3251-3256.
-
(2002)
Cancer Res
, vol.62
, pp. 3251-3256
-
-
Thompson, T.E.1
Rogan, P.K.2
Risinger, J.I.3
Taylor, J.A.4
-
39
-
-
0032963135
-
G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese
-
Wang S-L, Lai M-D, Huang J-D. G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese. Drug Metab Disp 1999; 27:385-388.
-
(1999)
Drug Metab Disp
, vol.27
, pp. 385-388
-
-
Wang, S.-L.1
Lai, M.-D.2
Huang, J.-D.3
-
40
-
-
0030914738
-
Molecular modelling of cytochrome P4502D6 (CYP2D6) based on an alignment with CYP102: Structural studies on specific CYP2D6 substrate metabolism
-
Lewis DFW, Eddershaw PJ, Goldfarb PS, Tarbit MH. Molecular modelling of cytochrome P4502D6 (CYP2D6) based on an alignment with CYP102: structural studies on specific CYP2D6 substrate metabolism. Xenobiotica 1997; 27:319-340.
-
(1997)
Xenobiotica
, vol.27
, pp. 319-340
-
-
Lewis, D.F.W.1
Eddershaw, P.J.2
Goldfarb, P.S.3
Tarbit, M.H.4
-
41
-
-
0029643786
-
Structure and function of cytochromes P450: A comparative analysis of three crystal structures
-
Hasemann CA, Kurumbail RG, Boddupalli SS, Peterson JA, Deisenhofer J. Structure and function of cytochromes P450: a comparative analysis of three crystal structures. Structure 1995; 3:41-62.
-
(1995)
Structure
, vol.3
, pp. 41-62
-
-
Hasemann, C.A.1
Kurumbail, R.G.2
Boddupalli, S.S.3
Peterson, J.A.4
Deisenhofer, J.5
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