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Related Concept Videos

The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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Related Experiment Video

Updated: May 15, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
12:40

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Methods for detecting mutations in the human JAK2 gene.

Anthony J Bench1, E Joanna Baxter, Anthony R Green

  • 1Department of Hematology, Addenbrooke's Hospital, Cambridge, UK.

Methods in Molecular Biology (Clifton, N.J.)
|January 9, 2013
PubMed
Summary
This summary is machine-generated.

Detecting Janus Kinase 2 (JAK2) gene mutations is crucial for diagnosing myeloproliferative disorders. Various methods exist, each with unique strengths for specific applications in JAK2 mutation analysis.

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Last Updated: May 15, 2026

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Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Area of Science:

  • Hematology
  • Molecular Biology
  • Oncology

Background:

  • Janus Kinase 2 (JAK2) gene mutations are frequently observed in human myeloid malignancies.
  • These mutations are present in nearly all polycythemia vera cases and a substantial number of other myeloproliferative disorders.

Purpose of the Study:

  • To review and compare various methods for detecting acquired mutations in the JAK2 gene.
  • To discuss the relative merits of different techniques based on sensitivity, quantification, and mutation detection capabilities.

Main Methods:

  • Quantitative real-time PCR (QPCR) for detecting the specific JAK2 V617F mutation.
  • High-resolution melt-curve analysis (HRM) for identifying multiple mutations within JAK2 exon 12.

Main Results:

  • Both QPCR and HRM are valuable tools, but each has limitations.
  • The choice of method depends on the specific diagnostic or research application.

Conclusions:

  • There is no single "gold standard" method for detecting all JAK2 mutations.
  • Selecting the appropriate methodology is critical for accurate JAK2 mutation analysis in myeloproliferative neoplasms.