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Related Concept Videos

T Cell Types and Functions01:24

T Cell Types and Functions

When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
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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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Inflammatory Bowel Disease III: Crohn's Disease

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Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

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Related Experiment Video

Updated: Jun 25, 2026

Screening Bioactive Nanoparticles in Phagocytic Immune Cells for Inhibitors of Toll-like Receptor Signaling
09:51

Screening Bioactive Nanoparticles in Phagocytic Immune Cells for Inhibitors of Toll-like Receptor Signaling

Published on: July 26, 2017

Rare TLR2 mutations reduce TLR2 receptor function and can increase atopy risk.

M S D Kormann1, R Ferstl, M Depner

  • 1University Children's Hospital, Ludwig Maximilians University Munich, Germany.

Allergy
|February 18, 2009
PubMed
Summary
This summary is machine-generated.

Rare toll-like receptor 2 (TLR2) mutations can impact atopic diseases. The R753Q mutation in TLR2 increases atopic sensitization risk and elevates IgE levels in the general population.

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Last Updated: Jun 25, 2026

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Assessment of Lymphocyte Migration in an Ex Vivo Transmigration System
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Published on: September 20, 2019

Area of Science:

  • Immunology
  • Genetics

Background:

  • Toll-like receptor 2 (TLR2) variations are linked to atopic diseases.
  • The role of rare TLR2 mutations in atopic diseases is largely unknown.

Purpose of the Study:

  • Investigate functional properties of rare TLR2 mutations.
  • Assess the impact of these mutations on atopic sensitization and disease.

Main Methods:

  • Identified rare TLR2 mutations from databases.
  • Analyzed functional effects using in vitro assays (NF-kappaB luciferase reporter, IL-8 ELISA).
  • Determined mutation frequency in the general population and association with atopic diseases in a German cohort.

Main Results:

  • Three of six TLR2 mutations altered receptor activity in vitro.
  • The R753Q mutation (3% minor allele frequency) significantly increased atopy risk by 50%.
  • R753Q carriers showed elevated total and allergen-specific IgE levels.

Conclusions:

  • The rare R753Q mutation in TLR2 is functionally relevant.
  • This mutation may significantly influence atopic sensitization in the general population.