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

Glucose Transporters01:27

Glucose Transporters

28.5K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.5K
Incomplete Dominance01:43

Incomplete Dominance

32.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.9K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
Lethal Alleles02:41

Lethal Alleles

20.0K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
20.0K
Notch Signaling Pathway03:14

Notch Signaling Pathway

6.9K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
6.9K
The Ras Gene02:38

The Ras Gene

7.6K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
7.6K

You might also read

Related Articles

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

Sort by
Same author

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Pediatrics international : official journal of the Japan Pediatric Society·2026
Same author

qMaLioffG: a genetically encoded green fluorescence lifetime-based indicator enabling quantitative imaging of intracellular ATP.

Nature communications·2025
Same author

Infection prevention in patients with inborn errors of immunity: Insights from Japan's nationwide study.

Pediatrics international : official journal of the Japan Pediatric Society·2025
Same author

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.

The journal of allergy and clinical immunology. In practice·2025
Same author

Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy.

The Journal of allergy and clinical immunology·2025
Same author

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.

Pediatric research·2025
Same journal

[Development of novel therapeutics for multiple myeloma and improvement of drug lag].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Clinical pharmacy services to patients of immunomodulatory drugs].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Therapeutic drug monitoring of the new anti-myeloma drugs in the treatment of multiple myeloma].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Prognostic value of minimal residual disease assessment using next-generation sequencing in multiple myeloma].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[The evaluation of minimal residual disease in multiple myeloma by an allele-specific oligonucleotide real-time PCR].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Evaluation of minimal residual disease in myeloma by multiparametric flow cytometry].

Nihon rinsho. Japanese journal of clinical medicine·2019
See all related articles

Related Experiment Video

Updated: Apr 19, 2026

A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
06:59

A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis

Published on: August 11, 2010

12.5K

[GATA2 deficiency].

Shigeaki Nonoyama

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |December 17, 2014
    PubMed
    Summary
    This summary is machine-generated.

    GATA2 mutations cause rare syndromes like MonoMAC and Emberger, affecting immune cell development. This review details GATA2

    More Related Videos

    Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart
    06:51

    Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

    Published on: August 10, 2018

    9.0K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.6K

    Related Experiment Videos

    Last Updated: Apr 19, 2026

    A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
    06:59

    A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis

    Published on: August 11, 2010

    12.5K
    Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart
    06:51

    Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

    Published on: August 10, 2018

    9.0K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.6K

    Area of Science:

    • Hematology
    • Molecular Biology
    • Immunology

    Context:

    • GATA2 is a crucial transcription factor for lympho-hematopoiesis.
    • GATA2 mutations are linked to several primary immunodeficiencies and hematologic malignancies.

    Purpose:

    • To review the emerging functions of the GATA2 gene.
    • To describe the clinical, laboratory, pathological, genetic, and etiological aspects of GATA2-related disorders.

    Summary:

    • GATA2 mutations lead to MonoMAC syndrome (monocytopenia and mycobacterial infections)/DCML deficiency, Emberger syndrome (lymphoedema with Myelodysplastic Syndrome), and Myelodysplastic Syndrome/Acute Myeloid Leukemia (MDS/AML).
    • This review covers the diverse clinical presentations, diagnostic findings, and underlying causes associated with GATA2 dysfunction.

    Impact:

    • Enhances understanding of GATA2's role in immune and hematopoietic systems.
    • Provides a comprehensive resource for clinicians and researchers on GATA2-related diseases.