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

Genetic Screens02:46

Genetic Screens

5.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.9K

You might also read

Related Articles

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

Sort by
Same author

RPS20 as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls.

Familial cancer·2026
Same author

Generation of biologically responsive colon-like intestinal tissue patches from human induced pluripotent stem cells using a rapid co-differentiation platform.

Stem cell research & therapy·2026
Same author

Characterisation of bacteria-induced colitis and its modulation by probiotics in naked mole rats: a new mammalian model for acute inflammatory disease.

The Journal of pathology·2026
Same author

Mixed-model and transcriptome-wide association analyses identify transcription factors and genes associated with colorectal cancer susceptibility.

Nature communications·2026
Same author

Promises under pressure: the modest predictive power of polygenic risk scores.

European journal of human genetics : EJHG·2026
Same author

Comparison between germline and somatic loss-of-function <i>RNF43</i> mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.

Gut·2025

Related Experiment Video

Updated: Mar 24, 2026

Evaluation of Biomarkers in Glioma by Immunohistochemistry on Paraffin-Embedded 3D Glioma Neurosphere Cultures
06:32

Evaluation of Biomarkers in Glioma by Immunohistochemistry on Paraffin-Embedded 3D Glioma Neurosphere Cultures

Published on: January 9, 2019

8.4K

HOT mutation screening in human glioblastomas.

Daniel Krell1, Paul Mulholland2, Justin Stebbing3

  • 1Molecular & Population Genetics Laboratory, Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK ; Department of Medical Oncology, University College London Hospitals, London, UK.

Future Science OA
|March 8, 2016
PubMed
Summary
This summary is machine-generated.

Mutations in the hydroxyacid-oxoacid transhydrogenase (HOT) gene were investigated in glioblastoma (GBM) samples. No HOT gene mutations were found, suggesting they do not significantly contribute to GBM development.

Keywords:
2-hydroxyglutaratebrainglioblastomagliomahydroxyacid-oxoacid transhydrogenaseisocitrate dehydrogenasemetabolismmutationα-ketoglutarate

More Related Videos

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
09:43

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation

Published on: January 14, 2014

8.5K
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 24, 2026

Evaluation of Biomarkers in Glioma by Immunohistochemistry on Paraffin-Embedded 3D Glioma Neurosphere Cultures
06:32

Evaluation of Biomarkers in Glioma by Immunohistochemistry on Paraffin-Embedded 3D Glioma Neurosphere Cultures

Published on: January 9, 2019

8.4K
Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
09:43

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation

Published on: January 14, 2014

8.5K
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:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Somatic mutations in isocitrate dehydrogenase (IDH) genes are implicated in glioblastomas (GBMs).
  • Mutant IDH enzymes produce D-2-hydroxyglutarate (D-2HG), a metabolite linked to tumorigenesis.
  • The hydroxyacid-oxoacid transhydrogenase (HOT) enzyme produces D-2HG, and its role in IDH-wildtype GBMs is under investigation.

Purpose of the Study:

  • To investigate the potential role of HOT gene mutations in glioblastoma development.
  • To determine if HOT gene mutations contribute to D-2HG accumulation in GBMs, particularly in IDH-wildtype cases.

Main Methods:

  • Screening of 42 human glioblastoma samples for mutations in the HOT gene.
  • Analysis of the coding regions of the HOT gene.

Main Results:

  • No mutations in the HOT gene were identified in any of the 42 GBM samples analyzed.
  • The frequency of HOT gene mutations in this GBM cohort was negligible.

Conclusions:

  • Mutations within the coding regions of the HOT gene are not a common occurrence in glioblastomas.
  • HOT gene mutations are unlikely to be a significant driver of tumorigenesis in GBM.