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Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Transducer Mechanism: Nuclear Receptors01:31

Transducer Mechanism: Nuclear Receptors

Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...

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Pregnane X receptor polymorphisms associated with human diseases.

Ioly Kotta-Loizou1, Efstratios Patsouris, Stamatios Theocharis

  • 1Medical School, National and Kapodistrian University of Athens, First Department of Pathology , 75, Mikras Asias street, Goudi, Athens, 11527 , Greece theocharis@ath.forthnet.gr.

Expert Opinion on Therapeutic Targets
|September 19, 2013
PubMed
Summary

Genetic variations in the Pregnane X receptor (PXR) impact drug metabolism and disease outcomes. Understanding PXR polymorphisms offers potential for personalized medicine and targeted therapies.

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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

Area of Science:

  • Pharmacogenomics
  • Nuclear Receptor Superfamily

Background:

  • Pregnane X receptor (PXR) is a nuclear receptor primarily expressed in the liver and intestine.
  • PXR regulates the transcription of metabolic enzymes involved in xenobiotic response.
  • Genetic variations in PXR influence drug pharmacokinetics and disease states.

Purpose of the Study:

  • To review the significance of PXR polymorphisms in human diseases.
  • To explore potential therapeutic applications of PXR modulation.

Main Methods:

  • Comprehensive literature review of English-language studies.
  • Summarization of PXR polymorphisms' relation to disease risk, severity, and treatment response.

Main Results:

  • PXR polymorphisms are linked to disease risk and severity.
  • PXR variations affect drug clearance and treatment outcomes.
  • PXR plays a role in cellular response to xenobiotics.

Conclusions:

  • PXR polymorphisms hold prognostic value for diseases.
  • Targeting PXR offers avenues for individualized therapeutic strategies.
  • Further research is needed to fully elucidate PXR's therapeutic potential.