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Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Intrinsic Apoptotic Pathway01:31

The Intrinsic Apoptotic Pathway

Internal cellular stress, such as cellular injury or hypoxia, triggers intrinsic apoptosis. The B-cell lymphoma 2 (Bcl-2) family of proteins are the primary regulators of the intrinsic apoptotic pathway. For example, during DNA damage, checkpoint proteins, such as Ataxia Telangiectasia Mutated (ATM protein) and Checkpoints Factor-2 (Chk2) proteins, are activated. These proteins phosphorylate p53 which further activates pro-apoptotic proteins, such as Bax, Bak, PUMA, and Noxa, and inhibits...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Lethal Alleles02:41

Lethal Alleles

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...
Lineage Commitment01:21

Lineage Commitment

Commitment is the  process whereby stem cells:

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Related Experiment Video

Updated: May 7, 2026

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

Germline PAX5 mutations and B cell leukemia.

R Katherine Hyde1, P Paul Liu

  • 1Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.

Nature Genetics
|September 28, 2013
PubMed
Summary

Germline hypomorphic mutations in the PAX5 gene increase susceptibility to B-cell acute lymphoblastic leukemia (B-ALL). This implicates PAX5 in familial leukemia predisposition, highlighting its role in B-ALL development.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • The transcription factor PAX5 is crucial for B cell development.
  • PAX5 alterations are common in B-cell acute lymphoblastic leukemia (B-ALL).

Discussion:

  • Germline hypomorphic mutations in PAX5 are linked to increased B-ALL risk.
  • This finding suggests a role for PAX5 in inherited leukemia predisposition syndromes.
  • PAX5 is implicated alongside other hematopoietic transcription factors in familial leukemia.

Key Insights:

  • Germline PAX5 mutations confer susceptibility to B-ALL.
  • PAX5 is a key player in both normal B cell development and leukemia pathogenesis.
  • The study expands the list of familial leukemia genes.

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Derivation of Thymic Lymphoma T-cell Lines from Atm-/- and p53-/- Mice
17:59

Derivation of Thymic Lymphoma T-cell Lines from Atm-/- and p53-/- Mice

Published on: April 3, 2011

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Last Updated: May 7, 2026

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells
10:26

In Vitro Differentiation Model of Human Normal Memory B Cells to Long-lived Plasma Cells

Published on: January 20, 2019

Derivation of Thymic Lymphoma T-cell Lines from Atm-/- and p53-/- Mice
17:59

Derivation of Thymic Lymphoma T-cell Lines from Atm-/- and p53-/- Mice

Published on: April 3, 2011

Outlook:

  • Further research into PAX5's role in leukemia predisposition is warranted.
  • Investigating PAX5 mutations may lead to new diagnostic or therapeutic strategies for B-ALL.
  • Understanding these genetic links can improve risk stratification for familial leukemia.