메뉴 건너뛰기




Volumn 108, Issue 2, 2011, Pages 94-114

Phenotype Prediction of Non-Synonymous Single-Nucleotide Polymorphisms in Human ATP-Binding Cassette Transporter Genes

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER;

EID: 78651437999     PISSN: 17427835     EISSN: 17427843     Source Type: Journal    
DOI: 10.1111/j.1742-7843.2010.00627.x     Document Type: Article
Times cited : (16)

References (127)
  • 1
    • 34147214716 scopus 로고    scopus 로고
    • Multiple molecular mechanisms for multidrug resistance transporters
    • Higgins CF. Multiple molecular mechanisms for multidrug resistance transporters. Nature 2007;446:749-57.
    • (2007) Nature , vol.446 , pp. 749-757
    • Higgins, C.F.1
  • 2
    • 70349335633 scopus 로고    scopus 로고
    • ABC transporters: a riddle wrapped in a mystery inside an enigma
    • Jones PM, O'Mara ML, George AM. ABC transporters: a riddle wrapped in a mystery inside an enigma. Trends Biochem Sci 2009;34:520-31.
    • (2009) Trends Biochem Sci , vol.34 , pp. 520-531
    • Jones, P.M.1    O'Mara, M.L.2    George, A.M.3
  • 4
    • 64649090980 scopus 로고    scopus 로고
    • Molecular basis of multidrug transport by ABC transporters
    • Seeger MA, van Veen HW. Molecular basis of multidrug transport by ABC transporters. Biochim Biophys Acta 2009;1794:725-37.
    • (2009) Biochim Biophys Acta , vol.1794 , pp. 725-737
    • Seeger, M.A.1    van Veen, H.W.2
  • 5
    • 0036074018 scopus 로고    scopus 로고
    • Mammalian ABC transporters in health and disease
    • Borst P, Elferink RO. Mammalian ABC transporters in health and disease. Annu Rev Biochem 2002;71:537-92.
    • (2002) Annu Rev Biochem , vol.71 , pp. 537-592
    • Borst, P.1    Elferink, R.O.2
  • 6
    • 0034674901 scopus 로고    scopus 로고
    • A family of drug transporters: the multidrug resistance-associated proteins
    • Borst P, Evers R, Kool M, Wijnholds J. A family of drug transporters: the multidrug resistance-associated proteins. J Natl Cancer Inst 2000;92:1295-302.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1295-1302
    • Borst, P.1    Evers, R.2    Kool, M.3    Wijnholds, J.4
  • 7
    • 34250219965 scopus 로고    scopus 로고
    • Chemotherapy-induced resistance by ATP-binding cassette transporter genes
    • Gillet JP, Efferth T, Remacle J. Chemotherapy-induced resistance by ATP-binding cassette transporter genes. Biochim Biophys Acta 2007;1775:237-62.
    • (2007) Biochim Biophys Acta , vol.1775 , pp. 237-262
    • Gillet, J.P.1    Efferth, T.2    Remacle, J.3
  • 8
    • 33846678695 scopus 로고    scopus 로고
    • The ABCA subfamily - gene and protein structures, functions and associated hereditary diseases
    • Albrecht C, Viturro E. The ABCA subfamily - gene and protein structures, functions and associated hereditary diseases. Pflugers Arch 2007;453:581-9.
    • (2007) Pflugers Arch , vol.453 , pp. 581-589
    • Albrecht, C.1    Viturro, E.2
  • 9
    • 0034953105 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • Dean M, Hamon Y, Chimini G. The human ATP-binding cassette (ABC) transporter superfamily. J Lipid Res 2001;42:1007-17.
    • (2001) J Lipid Res , vol.42 , pp. 1007-1017
    • Dean, M.1    Hamon, Y.2    Chimini, G.3
  • 10
    • 0034917716 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001;11:1156-66.
    • (2001) Genome Res , vol.11 , pp. 1156-1166
    • Dean, M.1    Rzhetsky, A.2    Allikmets, R.3
  • 11
    • 31844455820 scopus 로고    scopus 로고
    • The multidrug resistance-associated protein (MRP/ABCC) subfamily of ATP-binding cassette transporters in plants
    • Klein M, Burla B, Martinoia E. The multidrug resistance-associated protein (MRP/ABCC) subfamily of ATP-binding cassette transporters in plants. FEBS Lett 2006;580:1112-22.
    • (2006) FEBS Lett , vol.580 , pp. 1112-1122
    • Klein, M.1    Burla, B.2    Martinoia, E.3
  • 13
    • 33846664466 scopus 로고    scopus 로고
    • ATP-binding cassette, subfamily G (ABCG family)
    • Kusuhara H, Sugiyama Y. ATP-binding cassette, subfamily G (ABCG family). Pflugers Arch 2007;453:735-44.
    • (2007) Pflugers Arch , vol.453 , pp. 735-744
    • Kusuhara, H.1    Sugiyama, Y.2
  • 15
    • 59049096478 scopus 로고    scopus 로고
    • Ins and outs of the ABCG2 multidrug transporter: an update on in vitro functional assays
    • Hegedus C, Szakacs G, Homolya L, Orban TI, Telbisz A, Jani M et al. Ins and outs of the ABCG2 multidrug transporter: an update on in vitro functional assays. Adv Drug Deliv Rev 2009;61:47-56.
    • (2009) Adv Drug Deliv Rev , vol.61 , pp. 47-56
    • Hegedus, C.1    Szakacs, G.2    Homolya, L.3    Orban, T.I.4    Telbisz, A.5    Jani, M.6
  • 16
    • 77951224759 scopus 로고    scopus 로고
    • ABCG2: a potential marker of stem cells and novel target in stem cell and cancer therapy
    • Ding XW, Wu JH, Jiang CP. ABCG2: a potential marker of stem cells and novel target in stem cell and cancer therapy. Life Sci 2010;86:631-7.
    • (2010) Life Sci , vol.86 , pp. 631-637
    • Ding, X.W.1    Wu, J.H.2    Jiang, C.P.3
  • 17
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-8.
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3    Sklar, P.4    Ardlie, K.5    Patil, N.6
  • 18
    • 0037028150 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms: tackling complexity
    • Nadeau JH. Single nucleotide polymorphisms: tackling complexity. Nature 2002;420:517-8.
    • (2002) Nature , vol.420 , pp. 517-518
    • Nadeau, J.H.1
  • 19
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 20
  • 23
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74.
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 24
    • 2642527702 scopus 로고    scopus 로고
    • Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function
    • Xi T, Jones IM, Mohrenweiser HW. Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics 2004;83:970-9.
    • (2004) Genomics , vol.83 , pp. 970-979
    • Xi, T.1    Jones, I.M.2    Mohrenweiser, H.W.3
  • 25
    • 33846689559 scopus 로고    scopus 로고
    • ABCA1, from pathology to membrane function
    • Zarubica A, Trompier D, Chimini G. ABCA1, from pathology to membrane function. Pflugers Arch 2007;453:569-79.
    • (2007) Pflugers Arch , vol.453 , pp. 569-579
    • Zarubica, A.1    Trompier, D.2    Chimini, G.3
  • 26
    • 0033962086 scopus 로고    scopus 로고
    • Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice
    • Orso E, Broccardo C, Kaminski WE, Bottcher A, Liebisch G, Drobnik W et al. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat Genet 2000;24:192-6.
    • (2000) Nat Genet , vol.24 , pp. 192-196
    • Orso, E.1    Broccardo, C.2    Kaminski, W.E.3    Bottcher, A.4    Liebisch, G.5    Drobnik, W.6
  • 27
    • 0032813809 scopus 로고    scopus 로고
    • The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
    • Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999;22:347-51.
    • (1999) Nat Genet , vol.22 , pp. 347-351
    • Bodzioch, M.1    Orso, E.2    Klucken, J.3    Langmann, T.4    Bottcher, A.5    Diederich, W.6
  • 28
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999;22:336-45.
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2    Clee, S.M.3    Zhang, L.H.4    Roomp, K.5    van Dam, M.6
  • 29
    • 0035900369 scopus 로고    scopus 로고
    • ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
    • Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001;508:221-5.
    • (2001) FEBS Lett , vol.508 , pp. 221-225
    • Yamano, G.1    Funahashi, H.2    Kawanami, O.3    Zhao, L.X.4    Ban, N.5    Uchida, Y.6
  • 31
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999;98:13-23.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 32
    • 0033071210 scopus 로고    scopus 로고
    • Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
    • Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 1999;64:422-34.
    • (1999) Am J Hum Genet , vol.64 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3    Allikmets, R.4    Hutchinson, A.5    Li, Y.6
  • 39
    • 47349110179 scopus 로고    scopus 로고
    • Structure, function and regulation of P-glycoprotein and its clinical relevance in drug disposition
    • Zhou SF. Structure, function and regulation of P-glycoprotein and its clinical relevance in drug disposition. Xenobiotica 2008;38:802-32.
    • (2008) Xenobiotica , vol.38 , pp. 802-832
    • Zhou, S.F.1
  • 40
    • 0028229150 scopus 로고
    • Disruption of the mouse mdr1a P-glycoprotein gene leads to a deficiency in the blood-brain barrier and to increased sensitivity to drugs
    • Schinkel AH, Smit JJ, van Tellingen O, Beijnen JH, Wagenaar E, van Deemter L et al. Disruption of the mouse mdr1a P-glycoprotein gene leads to a deficiency in the blood-brain barrier and to increased sensitivity to drugs. Cell 1994;77:491-502.
    • (1994) Cell , vol.77 , pp. 491-502
    • Schinkel, A.H.1    Smit, J.J.2    van Tellingen, O.3    Beijnen, J.H.4    Wagenaar, E.5    van Deemter, L.6
  • 41
    • 34447619872 scopus 로고    scopus 로고
    • Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese
    • Kwan P, Baum L, Wong V, Ng PW, Lui CH, Sin NC et al. Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. Epilepsy Behav 2007;11:112-7.
    • (2007) Epilepsy Behav , vol.11 , pp. 112-117
    • Kwan, P.1    Baum, L.2    Wong, V.3    Ng, P.W.4    Lui, C.H.5    Sin, N.C.6
  • 42
    • 0037022006 scopus 로고    scopus 로고
    • Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: a pharmacogenetics study
    • Fellay J, Marzolini C, Meaden ER, Back DJ, Buclin T, Chave JP et al. Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: a pharmacogenetics study. Lancet 2002;359:30-6.
    • (2002) Lancet , vol.359 , pp. 30-36
    • Fellay, J.1    Marzolini, C.2    Meaden, E.R.3    Back, D.J.4    Buclin, T.5    Chave, J.P.6
  • 43
    • 35848960546 scopus 로고    scopus 로고
    • Associations between MDR1 gene polymorphisms and schizophrenia and therapeutic response to olanzapine in female schizophrenic patients
    • Bozina N, Kuzman MR, Medved V, Jovanovic N, Sertic J, Hotujac L. Associations between MDR1 gene polymorphisms and schizophrenia and therapeutic response to olanzapine in female schizophrenic patients. J Psychiatr Res 2008;42:89-97.
    • (2008) J Psychiatr Res , vol.42 , pp. 89-97
    • Bozina, N.1    Kuzman, M.R.2    Medved, V.3    Jovanovic, N.4    Sertic, J.5    Hotujac, L.6
  • 44
    • 0027363563 scopus 로고
    • Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
    • Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993;75:451-62.
    • (1993) Cell , vol.75 , pp. 451-462
    • Smit, J.J.1    Schinkel, A.H.2    Oude Elferink, R.P.3    Groen, A.K.4    Wagenaar, E.5    van Deemter, L.6
  • 45
    • 0028307550 scopus 로고
    • Phosphatidylcholine translocase: a physiological role for the mdr2 gene
    • Ruetz S, Gros P. Phosphatidylcholine translocase: a physiological role for the mdr2 gene. Cell 1994;77:1071-81.
    • (1994) Cell , vol.77 , pp. 1071-1081
    • Ruetz, S.1    Gros, P.2
  • 46
    • 36349000557 scopus 로고    scopus 로고
    • Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
    • Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007;15:1230-8.
    • (2007) Eur J Hum Genet , vol.15 , pp. 1230-1238
    • Degiorgio, D.1    Colombo, C.2    Seia, M.3    Porcaro, L.4    Costantino, L.5    Zazzeron, L.6
  • 48
    • 17644443114 scopus 로고    scopus 로고
    • Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking
    • Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000;9:1209-17.
    • (2000) Hum Mol Genet , vol.9 , pp. 1209-1217
    • Dixon, P.H.1    Weerasekera, N.2    Linton, K.J.3    Donaldson, O.4    Chambers, J.5    Egginton, E.6
  • 49
    • 17344366172 scopus 로고    scopus 로고
    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-8.
    • (1998) Nat Genet , vol.20 , pp. 233-238
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3    Kocoshis, S.A.4    Dahl, N.5    Arnell, H.6
  • 51
    • 0347320502 scopus 로고    scopus 로고
    • A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump
    • Plass JR, Mol O, Heegsma J, Geuken M, de Bruin J, Elling G et al. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. J Hepatol 2004;40:24-30.
    • (2004) J Hepatol , vol.40 , pp. 24-30
    • Plass, J.R.1    Mol, O.2    Heegsma, J.3    Geuken, M.4    de Bruin, J.5    Elling, G.6
  • 52
    • 0032711405 scopus 로고    scopus 로고
    • Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
    • Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999;117:1370-9.
    • (1999) Gastroenterology , vol.117 , pp. 1370-1379
    • Jansen, P.L.1    Strautnieks, S.S.2    Jacquemin, E.3    Hadchouel, M.4    Sokal, E.M.5    Hooiveld, G.J.6
  • 53
    • 0036161690 scopus 로고    scopus 로고
    • FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels
    • Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 2002;140:119-24.
    • (2002) J Pediatr , vol.140 , pp. 119-124
    • Chen, H.L.1    Chang, P.S.2    Hsu, H.C.3    Ni, Y.H.4    Hsu, H.Y.5    Lee, J.H.6
  • 54
    • 21844468483 scopus 로고    scopus 로고
    • Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis
    • Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J Hepatol 2005;43:536-43.
    • (2005) J Hepatol , vol.43 , pp. 536-543
    • Noe, J.1    Kullak-Ublick, G.A.2    Jochum, W.3    Stieger, B.4    Kerb, R.5    Haberl, M.6
  • 55
    • 0345724724 scopus 로고    scopus 로고
    • The MRP family of drug efflux pumps
    • Kruh GD, Belinsky MG. The MRP family of drug efflux pumps. Oncogene 2003;22:7537-52.
    • (2003) Oncogene , vol.22 , pp. 7537-7552
    • Kruh, G.D.1    Belinsky, M.G.2
  • 56
    • 0033975098 scopus 로고    scopus 로고
    • Multidrug resistance protein 1 protects the choroid plexus epithelium and contributes to the blood-cerebrospinal fluid barrier
    • Wijnholds J, deLange EC, Scheffer GL, van den Berg DJ, Mol CA, van der Valk M et al. Multidrug resistance protein 1 protects the choroid plexus epithelium and contributes to the blood-cerebrospinal fluid barrier. J Clin Invest 2000;105:279-85.
    • (2000) J Clin Invest , vol.105 , pp. 279-285
    • Wijnholds, J.1    deLange, E.C.2    Scheffer, G.L.3    van den Berg, D.J.4    Mol, C.A.5    van der Valk, M.6
  • 57
    • 23444447815 scopus 로고    scopus 로고
    • Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1)
    • Letourneau IJ, Deeley RG, Cole SP. Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1). Pharmacogenet Genomics 2005;15:647-57.
    • (2005) Pharmacogenet Genomics , vol.15 , pp. 647-657
    • Letourneau, I.J.1    Deeley, R.G.2    Cole, S.P.3
  • 58
    • 0035212059 scopus 로고    scopus 로고
    • Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution
    • Conrad S, Kauffmann HM, Ito K, Deeley RG, Cole SP, Schrenk D. Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. J Hum Genet 2001;46:656-63.
    • (2001) J Hum Genet , vol.46 , pp. 656-663
    • Conrad, S.1    Kauffmann, H.M.2    Ito, K.3    Deeley, R.G.4    Cole, S.P.5    Schrenk, D.6
  • 59
    • 0036016317 scopus 로고    scopus 로고
    • A naturally occurring mutation in MRP1 results in a selective decrease in organic anion transport and in increased doxorubicin resistance
    • Conrad S, Kauffmann HM, Ito K, Leslie EM, Deeley RG, Schrenk D et al. A naturally occurring mutation in MRP1 results in a selective decrease in organic anion transport and in increased doxorubicin resistance. Pharmacogenetics 2002;12:321-30.
    • (2002) Pharmacogenetics , vol.12 , pp. 321-330
    • Conrad, S.1    Kauffmann, H.M.2    Ito, K.3    Leslie, E.M.4    Deeley, R.G.5    Schrenk, D.6
  • 60
    • 0037882044 scopus 로고    scopus 로고
    • Functional and structural consequences of cysteine substitutions in the NH2 proximal region of the human multidrug resistance protein 1 (MRP1/ABCC1)
    • Leslie EM, Letourneau IJ, Deeley RG, Cole SP. Functional and structural consequences of cysteine substitutions in the NH2 proximal region of the human multidrug resistance protein 1 (MRP1/ABCC1). Biochemistry 2003;42:5214-24.
    • (2003) Biochemistry , vol.42 , pp. 5214-5224
    • Leslie, E.M.1    Letourneau, I.J.2    Deeley, R.G.3    Cole, S.P.4
  • 61
    • 0030841332 scopus 로고    scopus 로고
    • Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines
    • Kool M, de Haas M, Scheffer GL, Scheper RJ, van Eijk MJ, Juijn JA et al. Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines. Cancer Res 1997;57:3537-47.
    • (1997) Cancer Res , vol.57 , pp. 3537-3547
    • Kool, M.1    de Haas, M.2    Scheffer, G.L.3    Scheper, R.J.4    van Eijk, M.J.5    Juijn, J.A.6
  • 62
    • 33749267293 scopus 로고    scopus 로고
    • Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs
    • Cascorbi I. Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs. Pharmacol Ther 2006;112:457-73.
    • (2006) Pharmacol Ther , vol.112 , pp. 457-473
    • Cascorbi, I.1
  • 63
    • 0040761368 scopus 로고    scopus 로고
    • cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats
    • Buchler M, Konig J, Brom M, Kartenbeck J, Spring H, Horie T et al. cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. J Biol Chem 1996;271:15091-8.
    • (1996) J Biol Chem , vol.271 , pp. 15091-15098
    • Buchler, M.1    Konig, J.2    Brom, M.3    Kartenbeck, J.4    Spring, H.5    Horie, T.6
  • 64
    • 0033361943 scopus 로고    scopus 로고
    • Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome
    • Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y et al. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am J Hum Genet 1999;64:739-46.
    • (1999) Am J Hum Genet , vol.64 , pp. 739-746
    • Toh, S.1    Wada, M.2    Uchiumi, T.3    Inokuchi, A.4    Makino, Y.5    Horie, Y.6
  • 65
    • 33645104459 scopus 로고    scopus 로고
    • Altered hepatobiliary disposition of 5 (and 6)-carboxy-2',7'-dichlorofluorescein in ABCG2 (BCRP1) and ABCC2 (MRP2) knockout mice
    • Nezasa K, Tian X, Zamek-Gliszczynski MJ, Patel NJ, Raub TJ, Brouwer KL. Altered hepatobiliary disposition of 5 (and 6)-carboxy-2', 7'-dichlorofluorescein in ABCG2 (BCRP1) and ABCC2 (MRP2) knockout mice. Drug Metab Dispos 2006;34:718-23.
    • (2006) Drug Metab Dispos , vol.34 , pp. 718-723
    • Nezasa, K.1    Tian, X.2    Zamek-Gliszczynski, M.J.3    Patel, N.J.4    Raub, T.J.5    Brouwer, K.L.6
  • 67
    • 0037131880 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in multidrug resistance associated protein 2 (MRP2/ABCC2): its impact on drug disposition
    • Suzuki H, Sugiyama Y. Single nucleotide polymorphisms in multidrug resistance associated protein 2 (MRP2/ABCC2): its impact on drug disposition. Adv Drug Deliv Rev 2002;54:1311-31.
    • (2002) Adv Drug Deliv Rev , vol.54 , pp. 1311-1331
    • Suzuki, H.1    Sugiyama, Y.2
  • 68
    • 21044455712 scopus 로고    scopus 로고
    • A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination
    • Hulot JS, Villard E, Maguy A, Morel V, Mir L, Tostivint I et al. A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination. Pharmacogenet Genomics 2005;15:277-85.
    • (2005) Pharmacogenet Genomics , vol.15 , pp. 277-285
    • Hulot, J.S.1    Villard, E.2    Maguy, A.3    Morel, V.4    Mir, L.5    Tostivint, I.6
  • 69
    • 2342459714 scopus 로고    scopus 로고
    • Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan
    • Innocenti F, Undevia SD, Iyer L, Chen PX, Das S, Kocherginsky M et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 2004;22:1382-8.
    • (2004) J Clin Oncol , vol.22 , pp. 1382-1388
    • Innocenti, F.1    Undevia, S.D.2    Iyer, L.3    Chen, P.X.4    Das, S.5    Kocherginsky, M.6
  • 70
    • 0033591235 scopus 로고    scopus 로고
    • Characterization of the transport properties of cloned rat multidrug resistance-associated protein 3 (MRP3)
    • Hirohashi T, Suzuki H, Sugiyama Y. Characterization of the transport properties of cloned rat multidrug resistance-associated protein 3 (MRP3). J Biol Chem 1999;274:15181-5.
    • (1999) J Biol Chem , vol.274 , pp. 15181-15185
    • Hirohashi, T.1    Suzuki, H.2    Sugiyama, Y.3
  • 71
    • 33644910207 scopus 로고    scopus 로고
    • Mice lacking Mrp3 (Abcc3) have normal bile salt transport, but altered hepatic transport of endogenous glucuronides
    • Zelcer N, van de Wetering K, de Waart R, Scheffer GL, Marschall HU, Wielinga PR et al. Mice lacking Mrp3 (Abcc3) have normal bile salt transport, but altered hepatic transport of endogenous glucuronides. J Hepatol 2006;44:768-75.
    • (2006) J Hepatol , vol.44 , pp. 768-775
    • Zelcer, N.1    van de Wetering, K.2    de Waart, R.3    Scheffer, G.L.4    Marschall, H.U.5    Wielinga, P.R.6
  • 72
    • 33744975311 scopus 로고    scopus 로고
    • Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population
    • Maekawa K, Itoda M, Sai K, Saito Y, Kaniwa N, Shirao K et al. Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. Drug Metab Pharmacokinet 2006;21:109-21.
    • (2006) Drug Metab Pharmacokinet , vol.21 , pp. 109-121
    • Maekawa, K.1    Itoda, M.2    Sai, K.3    Saito, Y.4    Kaniwa, N.5    Shirao, K.6
  • 73
    • 0032142981 scopus 로고    scopus 로고
    • ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors
    • Kuss BJ, O'Neill GM, Eyre H, Doggett NA, Callen DF, Davey RA. ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors. Genomics 1998;51:455-8.
    • (1998) Genomics , vol.51 , pp. 455-458
    • Kuss, B.J.1    O'Neill, G.M.2    Eyre, H.3    Doggett, N.A.4    Callen, D.F.5    Davey, R.A.6
  • 74
    • 0036829109 scopus 로고    scopus 로고
    • Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6)
    • Belinsky MG, Chen ZS, Shchaveleva I, Zeng H, Kruh GD. Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6). Cancer Res 2002;62:6172-7.
    • (2002) Cancer Res , vol.62 , pp. 6172-6177
    • Belinsky, M.G.1    Chen, Z.S.2    Shchaveleva, I.3    Zeng, H.4    Kruh, G.D.5
  • 75
    • 24344480438 scopus 로고    scopus 로고
    • Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues
    • Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N et al. Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 2005;25:8299-310.
    • (2005) Mol Cell Biol , vol.25 , pp. 8299-8310
    • Klement, J.F.1    Matsuzaki, Y.2    Jiang, Q.J.3    Terlizzi, J.4    Choi, H.Y.5    Fujimoto, N.6
  • 76
  • 77
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005;42:881-92.
    • (2005) J Med Genet , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3    Le Bert, M.4    Hovnanian, A.5
  • 78
    • 18844465976 scopus 로고    scopus 로고
    • Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
    • Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223-7.
    • (2000) Nat Genet , vol.25 , pp. 223-227
    • Le Saux, O.1    Urban, Z.2    Tschuch, C.3    Csiszar, K.4    Bacchelli, B.5    Quaglino, D.6
  • 81
    • 35348906644 scopus 로고    scopus 로고
    • Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    • Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007;44:621-8.
    • (2007) J Med Genet , vol.44 , pp. 621-628
    • Pfendner, E.G.1    Vanakker, O.M.2    Terry, S.F.3    Vourthis, S.4    McAndrew, P.E.5    McClain, M.R.6
  • 82
    • 0034705145 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    • Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000;97:6001-6.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 6001-6006
    • Ringpfeil, F.1    Lebwohl, M.G.2    Christiano, A.M.3    Uitto, J.4
  • 83
    • 60549116129 scopus 로고    scopus 로고
    • Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks
    • Sato N, Nakayama T, Mizutani Y, Yuzawa M. Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. Biochem Biophys Res Commun 2009;380:548-53.
    • (2009) Biochem Biophys Res Commun , vol.380 , pp. 548-553
    • Sato, N.1    Nakayama, T.2    Mizutani, Y.3    Yuzawa, M.4
  • 84
    • 33645307384 scopus 로고    scopus 로고
    • The ABC protein turned chloride channel whose failure causes cystic fibrosis
    • Gadsby DC, Vergani P, Csanady L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 2006;440:477-83.
    • (2006) Nature , vol.440 , pp. 477-483
    • Gadsby, D.C.1    Vergani, P.2    Csanady, L.3
  • 85
    • 0034603709 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited
    • Chen EY, Bartlett MC, Clarke DM. Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited. Biochemistry 2000;39:3797-803.
    • (2000) Biochemistry , vol.39 , pp. 3797-3803
    • Chen, E.Y.1    Bartlett, M.C.2    Clarke, D.M.3
  • 86
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990;63:827-34.
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.H.1    Gregory, R.J.2    Marshall, J.3    Paul, S.4    Souza, D.W.5    White, G.A.6
  • 87
    • 0028033550 scopus 로고
    • Cystic fibrosis-type mutational analysis in the ATP-binding cassette transporter signature of human P-glycoprotein MDR1
    • Hoof T, Demmer A, Hadam MR, Riordan JR, Tummler B. Cystic fibrosis-type mutational analysis in the ATP-binding cassette transporter signature of human P-glycoprotein MDR1. J Biol Chem 1994;269:20575-83.
    • (1994) J Biol Chem , vol.269 , pp. 20575-20583
    • Hoof, T.1    Demmer, A.2    Hadam, M.R.3    Riordan, J.R.4    Tummler, B.5
  • 88
    • 0029797823 scopus 로고    scopus 로고
    • Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes
    • Hughes DJ, Hill AJ, Macek M Jr, Redmond AO, Nevin NC, Graham CA. Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum Mutat 1996;8:340-7.
    • (1996) Hum Mutat , vol.8 , pp. 340-347
    • Hughes, D.J.1    Hill, A.J.2    Macek Jr, M.3    Redmond, A.O.4    Nevin, N.C.5    Graham, C.A.6
  • 90
  • 91
    • 33645221787 scopus 로고    scopus 로고
    • Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    • Gloyn AL, Siddiqui J, Ellard S. Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2006;27:220-31.
    • (2006) Hum Mutat , vol.27 , pp. 220-231
    • Gloyn, A.L.1    Siddiqui, J.2    Ellard, S.3
  • 92
    • 0032190017 scopus 로고    scopus 로고
    • Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    • Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998;102:1286-91.
    • (1998) J Clin Invest , vol.102 , pp. 1286-1291
    • Verkarre, V.1    Fournet, J.C.2    de Lonlay, P.3    Gross-Morand, M.S.4    Devillers, M.5    Rahier, J.6
  • 93
    • 33744722778 scopus 로고    scopus 로고
    • A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
    • Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006;15:1793-800.
    • (2006) Hum Mol Genet , vol.15 , pp. 1793-1800
    • Proks, P.1    Arnold, A.L.2    Bruining, J.3    Girard, C.4    Flanagan, S.E.5    Larkin, B.6
  • 95
    • 0035208916 scopus 로고    scopus 로고
    • ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
    • Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV et al. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 2001;18:499-515.
    • (2001) Hum Mutat , vol.18 , pp. 499-515
    • Kemp, S.1    Pujol, A.2    Waterham, H.R.3    van Geel, B.M.4    Boehm, C.D.5    Raymond, G.V.6
  • 97
    • 33845313979 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects
    • Berger J, Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 2006;1763:1721-32.
    • (2006) Biochim Biophys Acta , vol.1763 , pp. 1721-1732
    • Berger, J.1    Gartner, J.2
  • 98
    • 0032895533 scopus 로고    scopus 로고
    • Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes
    • Miyake K, Mickley L, Litman T, Zhan Z, Robey R, Cristensen B et al. Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes. Cancer Res 1999;59:8-13.
    • (1999) Cancer Res , vol.59 , pp. 8-13
    • Miyake, K.1    Mickley, L.2    Litman, T.3    Zhan, Z.4    Robey, R.5    Cristensen, B.6
  • 100
    • 0345688604 scopus 로고    scopus 로고
    • Multidrug resistance mediated by the breast cancer resistance protein BCRP (ABCG2)
    • Doyle LA, Ross DD. Multidrug resistance mediated by the breast cancer resistance protein BCRP (ABCG2). Oncogene 2003;22:7340-58.
    • (2003) Oncogene , vol.22 , pp. 7340-7358
    • Doyle, L.A.1    Ross, D.D.2
  • 101
    • 0037246432 scopus 로고    scopus 로고
    • Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine
    • Zamber CP, Lamba JK, Yasuda K, Farnum J, Thummel K, Schuetz JD et al. Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine. Pharmacogenetics 2003;13:19-28.
    • (2003) Pharmacogenetics , vol.13 , pp. 19-28
    • Zamber, C.P.1    Lamba, J.K.2    Yasuda, K.3    Farnum, J.4    Thummel, K.5    Schuetz, J.D.6
  • 102
    • 0036598543 scopus 로고    scopus 로고
    • C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance
    • Imai Y, Nakane M, Kage K, Tsukahara S, Ishikawa E, Tsuruo T et al. C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Mol Cancer Ther 2002;1:611-6.
    • (2002) Mol Cancer Ther , vol.1 , pp. 611-616
    • Imai, Y.1    Nakane, M.2    Kage, K.3    Tsukahara, S.4    Ishikawa, E.5    Tsuruo, T.6
  • 103
    • 1242319383 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms result in impaired membrane localization and reduced atpase activity in multidrug transporter ABCG2
    • Mizuarai S, Aozasa N, Kotani H. Single nucleotide polymorphisms result in impaired membrane localization and reduced atpase activity in multidrug transporter ABCG2. Int J Cancer 2004;109:238-46.
    • (2004) Int J Cancer , vol.109 , pp. 238-246
    • Mizuarai, S.1    Aozasa, N.2    Kotani, H.3
  • 104
    • 0034789387 scopus 로고    scopus 로고
    • Functional characterization of the human multidrug transporter, ABCG2, expressed in insect cells
    • Ozvegy C, Litman T, Szakacs G, Nagy Z, Bates S, Varadi A et al. Functional characterization of the human multidrug transporter, ABCG2, expressed in insect cells. Biochem Biophys Res Commun 2001;285:111-7.
    • (2001) Biochem Biophys Res Commun , vol.285 , pp. 111-117
    • Ozvegy, C.1    Litman, T.2    Szakacs, G.3    Nagy, Z.4    Bates, S.5    Varadi, A.6
  • 105
    • 0034915332 scopus 로고    scopus 로고
    • Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
    • Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet 2001;69:278-90.
    • (2001) Am J Hum Genet , vol.69 , pp. 278-290
    • Lu, K.1    Lee, M.H.2    Hazard, S.3    Brooks-Wilson, A.4    Hidaka, H.5    Kojima, H.6
  • 106
    • 0035158733 scopus 로고    scopus 로고
    • Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
    • Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 2001;27:79-83.
    • (2001) Nat Genet , vol.27 , pp. 79-83
    • Lee, M.H.1    Lu, K.2    Hazard, S.3    Yu, H.4    Shulenin, S.5    Hidaka, H.6
  • 107
    • 17744390348 scopus 로고    scopus 로고
    • Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
    • Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000;290:1771-5.
    • (2000) Science , vol.290 , pp. 1771-1775
    • Berge, K.E.1    Tian, H.2    Graf, G.A.3    Yu, L.4    Grishin, N.V.5    Schultz, J.6
  • 108
    • 0036203457 scopus 로고    scopus 로고
    • Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8
    • Berge KE, von Bergmann K, Lutjohann D, Guerra R, Grundy SM, Hobbs HH et al. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res 2002;43:486-94.
    • (2002) J Lipid Res , vol.43 , pp. 486-494
    • Berge, K.E.1    von Bergmann, K.2    Lutjohann, D.3    Guerra, R.4    Grundy, S.M.5    Hobbs, H.H.6
  • 109
    • 0036642255 scopus 로고    scopus 로고
    • Knockout mice: simple solutions to the problems of genetic background and flanking genes
    • Wolfer DP, Crusio WE, Lipp HP. Knockout mice: simple solutions to the problems of genetic background and flanking genes. Trends Neurosci 2002;25:336-40.
    • (2002) Trends Neurosci , vol.25 , pp. 336-340
    • Wolfer, D.P.1    Crusio, W.E.2    Lipp, H.P.3
  • 110
    • 0035399728 scopus 로고    scopus 로고
    • SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
    • Emahazion T, Feuk L, Jobs M, Sawyer SL, Fredman D, St Clair D et al. SNP association studies in Alzheimer's disease highlight problems for complex disease analysis. Trends Genet 2001;17:407-13.
    • (2001) Trends Genet , vol.17 , pp. 407-413
    • Emahazion, T.1    Feuk, L.2    Jobs, M.3    Sawyer, S.L.4    Fredman, D.5    St Clair, D.6
  • 112
    • 59149089885 scopus 로고    scopus 로고
    • The role of ATP binding cassette transporters in tissue defense and organ regeneration
    • Huls M, Russel FG, Masereeuw R. The role of ATP binding cassette transporters in tissue defense and organ regeneration. J Pharmacol Exp Ther 2009;328:3-9.
    • (2009) J Pharmacol Exp Ther , vol.328 , pp. 3-9
    • Huls, M.1    Russel, F.G.2    Masereeuw, R.3
  • 113
    • 0033794871 scopus 로고    scopus 로고
    • Simple and complex ABCR: genetic predisposition to retinal disease
    • Allikmets R. Simple and complex ABCR: genetic predisposition to retinal disease. Am J Hum Genet 2000;67:793-9.
    • (2000) Am J Hum Genet , vol.67 , pp. 793-799
    • Allikmets, R.1
  • 114
    • 12144290256 scopus 로고    scopus 로고
    • ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
    • Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 2004;36:382-7.
    • (2004) Nat Genet , vol.36 , pp. 382-387
    • Bienengraeber, M.1    Olson, T.M.2    Selivanov, V.A.3    Kathmann, E.C.4    O'Cochlain, F.5    Gao, F.6
  • 115
    • 0032920837 scopus 로고    scopus 로고
    • Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
    • Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 1999;8:743-9.
    • (1999) Hum Mol Genet , vol.8 , pp. 743-749
    • Allikmets, R.1    Raskind, W.H.2    Hutchinson, A.3    Schueck, N.D.4    Dean, M.5    Koeller, D.M.6
  • 116
    • 0034329310 scopus 로고    scopus 로고
    • Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
    • Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood 2000;96:3256-64.
    • (2000) Blood , vol.96 , pp. 3256-3264
    • Bekri, S.1    Kispal, G.2    Lange, H.3    Fitzsimons, E.4    Tolmie, J.5    Lill, R.6
  • 118
    • 0036364467 scopus 로고    scopus 로고
    • Multidrug resistance in cancer: role of ATP-dependent transporters
    • Gottesman MM, Fojo T, Bates SE. Multidrug resistance in cancer: role of ATP-dependent transporters. Nat Rev Cancer 2002;2:48-58.
    • (2002) Nat Rev Cancer , vol.2 , pp. 48-58
    • Gottesman, M.M.1    Fojo, T.2    Bates, S.E.3
  • 119
    • 0035012846 scopus 로고    scopus 로고
    • Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
    • Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet 2001;108:346-55.
    • (2001) Hum Genet , vol.108 , pp. 346-355
    • Yatsenko, A.N.1    Shroyer, N.F.2    Lewis, R.A.3    Lupski, J.R.4
  • 121
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 122
    • 66449133554 scopus 로고    scopus 로고
    • A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450
    • Wang LL, Li Y, Zhou SF. A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450. Drug Metab Dispos 2009;37:977-91.
    • (2009) Drug Metab Dispos , vol.37 , pp. 977-991
    • Wang, L.L.1    Li, Y.2    Zhou, S.F.3
  • 123
    • 73349093079 scopus 로고    scopus 로고
    • Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes
    • Di YM, Chan E, Wei MQ, Liu JP, Zhou SF. Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes. Aaps J 2009;11:469-80.
    • (2009) Aaps J , vol.11 , pp. 469-480
    • Di, Y.M.1    Chan, E.2    Wei, M.Q.3    Liu, J.P.4    Zhou, S.F.5
  • 124
    • 74749095050 scopus 로고    scopus 로고
    • Prediction of deleterious functional effects of non-synonymous single nucleotide polymorphisms in human nuclear receptor genes using a bioinformatics approach
    • Liu YH, Li CG, Zhou SF. Prediction of deleterious functional effects of non-synonymous single nucleotide polymorphisms in human nuclear receptor genes using a bioinformatics approach. Drug Metab Lett 2009;3:242-86.
    • (2009) Drug Metab Lett , vol.3 , pp. 242-286
    • Liu, Y.H.1    Li, C.G.2    Zhou, S.F.3
  • 125
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino acid substitutions on protein function
    • Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006;7:61-80.
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2
  • 126
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002;12:436-46.
    • (2002) Genome Res , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 127
    • 22944446748 scopus 로고    scopus 로고
    • Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters
    • Conseil G, Deeley RG, Cole SP. Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters. Pharmacogenet Genomics 2005;15:523-33.
    • (2005) Pharmacogenet Genomics , vol.15 , pp. 523-533
    • Conseil, G.1    Deeley, R.G.2    Cole, S.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.