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Related Concept Videos

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...
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...
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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...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...

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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Published on: April 1, 2019

TIM polymorphisms--genetics and function.

J Lee1, B Phong, A M Egloff

  • 1Department of Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

Genes and Immunity
|November 4, 2011
PubMed
Summary
This summary is machine-generated.

The Transmembrane Immunoglobulin and Mucin domain (TIM) family, particularly TIM1 and TIM3, is increasingly linked to immune system functions. Genetic studies explore TIM polymorphisms

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • The Transmembrane Immunoglobulin and Mucin domain (TIM) family was identified over a decade ago.
  • Initial research focused on ischemia-reperfusion injury, but recent interest centers on roles in immunity.
  • Numerous genetic studies have investigated TIM1 and TIM3 polymorphisms in relation to various diseases.

Purpose of the Study:

  • To review the existing literature on the Transmembrane Immunoglobulin and Mucin domain (TIM) family.
  • To highlight significant studies concerning TIM1 and TIM3 polymorphisms and their association with diseases.
  • To consolidate current understanding of the TIM family's role in immunity.

Main Methods:

  • Literature review of genetic studies.
  • Analysis of research on TIM1 and TIM3 polymorphisms.
  • Synthesis of findings related to disease associations.

Main Results:

  • A substantial body of genetic research exists on TIM1 and TIM3.
  • These studies explore the association between various polymorphisms and different diseases.
  • The potential roles of TIM family members in immunity are a key focus.

Conclusions:

  • The Transmembrane Immunoglobulin and Mucin domain (TIM) family, particularly TIM1 and TIM3, has garnered significant attention for its immunological relevance.
  • Genetic variations in TIM genes are being actively investigated for their links to various disease states.
  • Further research is warranted to fully elucidate the complex roles of the TIM family in immune function and disease pathogenesis.