Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein).
Laura M. Hodges,Svetlana Markova,Leslie W. Chinn,Jason M. Gow,Deanna L. Kroetz,Teri E. Klein,Russ B. Altman +6 more
TLDR
ABCB1 (MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes present in all kingdoms of life that is responsible for cellular homeostasis.Abstract:
ABCB1 descriptionABCB1 (MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes present in all kingdoms of life that is responsible for cellular homeostasis [1–3]. ABC genes encode transporter and channel proteins possessing multiple membrane-spanning domains that fread more
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Multiplex assessment of protein variant abundance by massively parallel sequencing
Kenneth A. Matreyek,Lea M. Starita,Jason J. Stephany,Beth Martin,Melissa A Chiasson,Vanessa E. Gray,Martin Kircher,Arineh Khechaduri,Jennifer N. Dines,Ronald J. Hause,Smita Bhatia,William E. Evans,Mary V. Relling,Wenjian Yang,Jay Shendure,Jay Shendure,Douglas M. Fowler,Douglas M. Fowler +17 more
TL;DR: This work describes variant abundance by massively parallel sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance simultaneously, and applies it to thousands of PTEN and TPMT variants to classify them as pathogenic or benign.
Journal ArticleDOI
Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature
Stefan Wolking,Elke Schaeffeler,Elke Schaeffeler,Holger Lerche,Matthias Schwab,Anne T. Nies,Anne T. Nies +6 more
TL;DR: The effect of ABCB1 variation on P-glycoprotein expression (messenger RNA and protein expression) and/or activity in various tissues appears to be small and future research activities are warranted, considering a deep-sequencing approach, as well as well-designed clinical studies with appropriate sample sizes to elucidate the impact of rareABCB1 variants and their potential consequences for effect sizes.
Journal ArticleDOI
Integrating rare genetic variants into pharmacogenetic drug response predictions.
TL;DR: It is concluded that rare genetic variants likely account for a substantial part of the unexplained inter-individual differences in drug metabolism phenotypes, which provides useful information for the design of clinical trials in drug development and the personalization of pharmacological treatment.
Journal ArticleDOI
Pharmacodynamic, Pharmacokinetic and Pharmacogenetic Aspects of Drugs Used in the Treatment of Alzheimer’s Disease
Muriel Noetzli,Chin B. Eap +1 more
TL;DR: The aim of this review is to summarize the pharmacodynamics and pharmacokinetics of the four commonly used anti-dementia drugs and to give an overview on the current knowledge of pharmacogenetics in this field.
Journal ArticleDOI
Pharmacogenomics and bioinformatics: PharmGKB.
TL;DR: The challenges are to provide the tools and knowledge to plan and interpret genome-wide pharmacogenomics studies, predict gene-drug relationships based on shared mechanisms and support data-sharing consortia investigating clinical applications of pharmacogenetics.
References
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TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Journal ArticleDOI
A surface glycoprotein modulating drug permeability in Chinese hamster ovary cell mutants.
TL;DR: Observations on the molecular basis of pleiotropic drug resistance are interpreted in terms of a model wherein certain surface glycoproteins control drug permeation by modulating the properties of hydrophobic membrane regions.
Journal ArticleDOI
Functional polymorphisms of the human multidrug-resistance gene: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo
Sven Hoffmeyer,Oliver Burk,O. von Richter,H. P. Arnold,Jürgen Brockmöller,Andreas Johne,Ingolf Cascorbi,Thomas Gerloff,Ivar Roots,Eichelbaum Michel,Ulrich Brinkmann +10 more
TL;DR: A significant correlation of a polymorphism in exon 26 (C3435T) of MDR-1 with expression levels and function is observed and this polymorphism is expected to affect the absorption and tissue concentrations of numerous other substrates of M DR-1.
Journal ArticleDOI
Disruption of the mouse mdr1a P-glycoprotein gene leads to a deficiency in the blood-brain barrier and to increased sensitivity to drugs
Alfred H. Schinkel,J. J. M. Smit,O. van Tellingen,Jos H. Beijnen,Els Wagenaar,L. Van Deemter,C. A. A. M. Mol,M. A. Van Der Valk,E. Robanus-Maandag,H te Riele,Anton Berns,Piet Borst +11 more
TL;DR: The findings explain some of the side effects in patients treated with a combination of carcinostatics and P-glycoprotein inhibitors and indicate that these inhibitors might be useful in selectively enhancing the access of a range of drugs to the brain.
Journal ArticleDOI
Biochemical, cellular, and pharmacological aspects of the multidrug transporter
Suresh V. Ambudkar,Saibal Dey,Christine A. Hrycyna,Murali Ramachandra,Ira Pastan,Michael M. Gottesman +5 more
TL;DR: This review summarizes current research on the structure-function analysis of P-glycoprotein, its mechanism of action, and facts and speculations about its normal physiological role.
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