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Related Concept Videos

NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

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The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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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...
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Transducer Mechanism: Nuclear Receptors01:31

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

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

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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
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Regulation of the Unfolded Protein Response01:31

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Inositol-requiring kinase one or IRE1 is the most conserved eukaryotic unfolded protein response (UPR) receptor. It is a type I transmembrane protein kinase receptor with a distinctive site-specific RNase activity. As the binding mechanics of the misfolded proteins with the N-terminal domain of IRE-1 are unclear, three binding models — direct, indirect, and allosteric -- are proposed for receptor activation. Nevertheless, it is known that once a misfolded protein associates with IRE1, it...
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Related Experiment Video

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Protocol for the Differentiation of Human Induced Pluripotent Stem Cells into Mixed Cultures of Neurons and Glia for Neurotoxicity Testing
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Functional polymorphisms in Nrf2: implications for human disease.

Hye-Youn Cho1, Jacqui Marzec1, Steven R Kleeberger1

  • 1Inflammation, Immunity, and Disease Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

Free Radical Biology & Medicine
|June 29, 2015
PubMed
Summary

Nuclear factor erythroid 2-related factor 2 (Nrf2) is vital for cellular protection against oxidative stress. Genetic mutations in Nrf2 are linked to various diseases, including cancers, highlighting its critical role in health and disease.

Keywords:
Antioxidant response elementComplex diseaseGeneticGenome-wide associationMouseMutationsPromoterSomatic

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Last Updated: Apr 8, 2026

Protocol for the Differentiation of Human Induced Pluripotent Stem Cells into Mixed Cultures of Neurons and Glia for Neurotoxicity Testing
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Measurements of Physiological Stress Responses in C. Elegans
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Area of Science:

  • Molecular Biology
  • Genetics
  • Cellular Biology

Background:

  • Nuclear factor (erythroid derived)-2 like 2 (NFE2L2), or Nrf2, is a key transcription factor.
  • Nrf2 plays a crucial role in cellular defense against oxidative stress and injury.
  • Its involvement in disease phenotypes across multiple organ systems is well-established.

Purpose of the Study:

  • To provide an overview of the human Nrf2 gene and protein.
  • To identify genetic mutations in Nrf2 and their association with various diseases.
  • To explore the role of somatic mutations in Nrf2, particularly in cancer.

Main Methods:

  • Review of existing literature on Nrf2.
  • Analysis of positional cloning and knockout mouse studies.
  • Examination of genetic mutation data and disease associations.

Main Results:

  • Nrf2's regulatory mechanisms and interaction with antioxidant response elements (ARE) have been characterized.
  • Single nucleotide polymorphisms (SNPs) in Nrf2 affect gene expression and function.
  • Somatic mutations in Nrf2 are implicated in the progression of various cancers.

Conclusions:

  • Nrf2 is a critical regulator of cellular defense mechanisms.
  • Genetic variations and mutations in Nrf2 have significant implications for disease susceptibility and progression.
  • Further research into Nrf2 mutations is essential for understanding and treating diseases, especially cancer.