Multidrug-resistance gene, polymorphisms

Hoffmeyer, S., Burk, O., von Richter, O., Arnold, H. P., Brockmoller, J., Johne, A., Cascorbi, I., Gerlo, T., Roots, I., Eichelbaum, M., Brinkmann, U., Functional polymorphism of the human multidrug resistance gene multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo, Proc. Natl. Acad. Sci. USA 2000, 97, 3473-3478. 

Hoffmeyer, S., et al., "Functional Polymorphisms of the Human Multidrug-Resistance Gene Multiple Sequence Variations and Correlation of One Allele with P-Glycoprotein Expression and Activity In Vivo," Proc. Natl. Acad. Sci. U.S.A., 97, 3473-3478 (2000). 

Hoffmeyer, S., Burk, O., von Richter, O., et al. (2000) Functional polymorphisms of the human multidrug-resistance gene multiple sequence variations and correlation of one allele... 

Nauck, M., Stein, U., von Karger, S., et al. (2000) Rapid detection of the C3435T polymorphism of multidrug resistance gene 1 using fluorogenic hybridization probes. Clin. Chem. 46, 1995-1997. 

Efferth, T., Sauerbrey, A., Steinbach, D., et al. (2003) Analysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDRl in acute lymphoblastic leukemia. Int. J. Oncol. 23, 509-517. 

Collins A, Lonjou C, Morton NE (1999) Genetic epidemiology of single-nucleotide polymorphisms [see comments]. Proc Natl Acad Sci U S A 96 15173-15177 Cordon-Cardo C, O Brien JP, Casals D, et al (1989) Multidrug-resistance gene (P-glyco-protein) is expressed by endothelial cells at blood-brain barrier sites. Proc Natl Acad Sci US A86 695-698... 

Pauli-Magnus, C. and Kroetz, D.L. (2004) Functional implications of genetic polymorphisms in the multidrug resistance gene MDR1 (ABCB1). Pharmaceutical Research, 21, 904—913. 

However, it is also known that polymorphisms always need not have to produce functionally defective proteins. For example, in the multidrug resistant gene (MDRl), certain polymorphisms may not have any effect on the drug response... 

Tanabe M, Ieiri I, Nagata N, Inoue K, Ito S, Kanamori Y et al. Expression of P-glycoprotein in human placenta relation to genetic polymorphism of the multidrug resistance (MDR)-l gene. J Pharmacol Exp Ther 2001 297(3) 1137-1143. 

Letoumeau, I. J., Deeley, R. G., and Cole, S. P. (2005) Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRPl/ABCCl). Pharmacogenet. Genomics. 15,647-657. 

Jin, J., Wu, L.H., Wang, W.L., et al. (2005) Impact of multidrug resistance 1 gene polymorphism on tacrohmus dose and concentration-to-dose ratio in Chinese liver transplantation recipients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 22, 616-620. 

Siddiqui A et al Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med 2002 348 15. 

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