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

Pleiotropy01:33

Pleiotropy

39.5K
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,...
39.5K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

8.7K
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...
8.7K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

6.4K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.4K
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

6.2K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.2K
Tumor Progression02:07

Tumor Progression

6.2K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.2K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.4K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.4K

You might also read

Related Articles

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

Sort by
Same author

Thyroid cancer and double-strand DNA break repair: The potential role of the MRN complex pathogenic variants.

Journal of clinical & translational endocrinology·2026
Same author

Three-dimensional modeling of sensory nerve architecture and eosinophil and mast cell interactions in eosinophilic gastrointestinal disease.

Journal of leukocyte biology·2026
Same author

A distinct vagus-beta cell neural circuit senses glucose and modulates insulin secretion.

Molecular metabolism·2026
Same author

Correction to: Gsα deficiency in macrophages promotes tumor progression via the MAPK signaling pathway.

Journal of molecular medicine (Berlin, Germany)·2026
Same author

Macrophage Gsα promotes NLRP3 stability and its intervention attenuates abdominal aortic aneurysm in male mice.

Nature communications·2026
Same author

Effect of metformin on pancreatic neuroendocrine tumors of multiple endocrine neoplasia type 1.

Journal of neuroendocrinology·2026

Related Experiment Video

Updated: May 28, 2025

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
08:57

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

1.2K

Genotype-phenotype correlation in multiple endocrine neoplasia type 1.

Charlita C Worthy1, Rana Tora1, Chandra N Uttarkar1

  • 1Metabolic Diseases Branch.

JCI Insight
|February 13, 2025
PubMed
Summary

Genotype-positive multiple endocrine neoplasia type 1 (MEN1) patients present differently than genotype-negative cases. Genetic testing helps predict MEN1 clinical course and metastasis risk, guiding surveillance strategies.

Keywords:
CalciumDiagnostic imagingEndocrinologyGeneticsMolecular diagnosisOncology

More Related Videos

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
11:12

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Published on: August 1, 2018

7.8K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Related Experiment Videos

Last Updated: May 28, 2025

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
08:57

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

1.2K
Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
11:12

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Published on: August 1, 2018

7.8K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple endocrine neoplasia type 1 (MEN1) is associated with duodenopancreatic neuroendocrine tumors (dpNETs), with significant metastatic risk.
  • Accurate biomarkers are needed to predict aggressive disease in MEN1 patients.
  • Clinical diagnosis of MEN1 can be challenging, with a subset lacking identifiable germline MEN1 variants.

Purpose of the Study:

  • To investigate the clinical differences between genotype-positive and genotype-negative MEN1.
  • To identify potential biomarkers for predicting MEN1 disease course and metastasis.
  • To evaluate the role of MEN1 mosaicism and specific variant locations in disease presentation.

Main Methods:

  • Retrospective analysis of 162 genotype-positive and 47 genotype-negative MEN1 patients.
  • Clinical data collection from 1977 to 2022.
  • Tumor analysis for MEN1 mosaicism in genotype-negative cases.

Main Results:

  • Genotype-positive MEN1 patients were younger at diagnosis and showed higher frequencies of recurrent parathyroid tumors, dpNETs, and skin manifestations.
  • A weighted scoring system for diagnosing genotype-positive MEN1 based on clinical features was proposed.
  • Germline MEN1 variants in exons 2 and 3 correlated with a lower risk of distant metastases.

Conclusions:

  • The clinical trajectory of genotype-negative MEN1 differs significantly from genotype-positive MEN1, questioning the necessity of lifelong surveillance for the former.
  • MEN1 mosaicism appears to be rare.
  • Genotype-specific analysis is crucial for understanding MEN1 heterogeneity and tailoring patient management.