Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Disorders of Leukocytes01:27

Disorders of Leukocytes

2.4K
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
2.4K
Differentiation of Common Myeloid Progenitor Cells01:15

Differentiation of Common Myeloid Progenitor Cells

4.2K
Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...
4.2K
Alternative RNA Splicing02:18

Alternative RNA Splicing

26.3K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
26.3K
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

2.4K
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
2.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Hereditary dehydrated stomatocytosis (= hereditary xerocytosis) - Interesting hummingbird or clinically relevant diagnosis?]

Deutsche medizinische Wochenschrift (1946)·2026
Same author

Progressive short stature in Pearson syndrome and the impact of organ failure.

Molecular genetics and metabolism·2026
Same author

Real-world treatment patterns and outcomes in accelerated and blast-phase myeloproliferative neoplasms: Insights from a large multi-centre cohort analysis in the United Kingdom.

British journal of haematology·2026
Same author

Posttransplant B cell Development and Function in Patients with B cell Positive SCID Caused by Pathogenic Variants in IL2RG and JAK3.

Journal of clinical immunology·2026
Same author

Preliminary Safety and Efficacy of Navitoclax Plus Ruxolitinib in Janus Kinase Inhibitor-Naïve Patients With Myelofibrosis From the Multicenter, Open-Label, Phase 2 Study (REFINE).

Hematological oncology·2026
Same author

Application of the online AML classification and risk stratification calculator in a real-world cohort of AML patients.

Irish journal of medical science·2025

Related Experiment Video

Updated: Mar 28, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.6K

LNK mutations and myeloproliferative disorders.

Mary Frances McMullin1, Holger Cario2

  • 1Centre for Cancer Research and Cell Biology, Queen's University, Belfast, Northern Ireland.

American Journal of Hematology
|December 15, 2015
PubMed
Summary

Lymphocyte adaptor protein (LNK) mutations are linked to myeloproliferative neoplasms and idiopathic erythrocytosis. Investigating LNK mutations may aid in diagnosing these conditions.

More Related Videos

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
12:04

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

5.1K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K

Related Experiment Videos

Last Updated: Mar 28, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.6K
Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
12:04

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

5.1K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K

Area of Science:

  • Hematology
  • Molecular Biology
  • Oncology

Background:

  • Lymphocyte adaptor protein (LNK) is crucial for regulating hematopoiesis and B cell signaling.
  • LNK acts as a negative regulator in cytokine-initiated signaling and against the JAK2V617F mutant protein in myeloproliferative neoplasms (MPNs).

Purpose of the Study:

  • To investigate the role of LNK mutations in MPNs and idiopathic erythrocytosis.
  • To determine if LNK mutations can explain the clinical phenotype of idiopathic erythrocytosis with subnormal erythropoietin levels.

Main Methods:

  • Analysis of LNK gene mutations in patients with myeloproliferative neoplasms and idiopathic erythrocytosis.
  • Correlation of identified LNK mutations with clinical phenotypes and disease characteristics.

Main Results:

  • Various LNK mutations have been identified in diverse MPNs, with most occurring in exon 2.
  • Some LNK mutations have been shown to increase cellular proliferation.
  • LNK mutations were found in a subset of idiopathic erythrocytosis cases with low erythropoietin levels, potentially explaining the clinical presentation.

Conclusions:

  • LNK mutations are implicated in the pathogenesis of certain myeloproliferative neoplasms.
  • Testing for LNK mutations should be considered in the diagnostic workup of idiopathic erythrocytosis.
  • Further investigation into LNK mutations may be warranted for other myeloproliferative neoplasms.