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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...
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).
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
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.

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Related Experiment Video

Updated: Jun 17, 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

[Research progress on gene mutation of jak2].

Li Liu1, Wei Li, Nian Liu

  • 1Cancer Center, The First Hospital, Jilin University, Changchun 130021, Jilin Province, China.

Zhongguo Shi Yan Xue Ye Xue Za Zhi
|December 25, 2009
PubMed
Summary

Chronic myeloproliferative diseases (CMPD) involve abnormal blood cell growth. Recent research highlights the JAK2 gene mutation

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Context:

  • Chronic myeloproliferative diseases (CMPD) are a group of clonal hematopoietic stem cell disorders.
  • CMPD encompasses conditions like polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
  • The exact pathogenesis of most CMPDs remains elusive, except for chronic myeloid leukemia (CML) linked to the BCR-ABL fusion gene.

Purpose:

  • To review the association of the JAK2 gene mutation with CMPD.
  • To explore the role of JAK2 mutations in the clinical diagnosis and features of CMPD.
  • To summarize the implications of JAK2 mutations for molecular targeted therapy in CMPD and related hematological disorders.

Summary:

  • The JAK2 gene mutation is frequently observed in patients with chronic myeloproliferative diseases (CMPD).

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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

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Related Experiment Videos

Last Updated: Jun 17, 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

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
07:49

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

Published on: July 17, 2019

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
07:17

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Published on: August 23, 2024

  • This review consolidates current understanding of JAK2 mutations in relation to CMPD diagnosis, clinical presentation, and therapeutic strategies.
  • JAK2 mutations are a significant factor in understanding the molecular basis and treatment of CMPD.

    • Impact:

    • Highlights the importance of JAK2 mutation analysis for accurate CMPD diagnosis.
    • Provides insights into the molecular mechanisms driving CMPD pathogenesis.
    • Informs the development and application of targeted therapies for CMPD patients.