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

Mutations01:39

Mutations

94.5K
Overview
94.5K
Mutations01:35

Mutations

44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Viral Mutations00:36

Viral Mutations

39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
The Central Dogma01:25

The Central Dogma

139.9K
Overview
139.9K
Measures of Central Tendency02:16

Measures of Central Tendency

21.3K
The "center" of a data set is also a way of describing location. The two most widely used measures of the "center" of the data are the mean (average) and the median. The words "mean" and "average" are often used interchangeably. The substitution of one word for the other is common practice. The technical term is "arithmetic mean" and "average" is technically a center location. However, in practice among non-statisticians,...
21.3K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.5K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.5K

You might also read

Related Articles

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

Sort by
Same author

Loss of Thyroid Hormone Transporters MCT8 and OATP1C1 in Mouse Oligodendroglia Cells Results in a Delayed Oligodendrocyte Maturation and Myelination.

Thyroid : official journal of the American Thyroid Association·2026
Same author

Aging and Western Diet Synergistically Impair Hepatic Thyroid Hormone Signaling to Promote Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in Mice.

Aging cell·2026
Same author

Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidism.

European journal of endocrinology·2026
Same author

Subclinical Hyperthyroidism, Cardiovascular Disease and All-Cause Mortality: Insights from a Large Dutch Primary Care Cohort Study.

Thyroid : official journal of the American Thyroid Association·2026
Same author

Neuron-specific expression of murine thyroid hormone transporters Mct8 and Oatp1c1 is dispensable for hippocampus-dependent neuronal functions.

Frontiers in endocrinology·2026
Same author

Measuring deiodinase activity: a need for standardization?

European thyroid journal·2026

Related Experiment Video

Updated: Feb 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K

Mutations in IRS4 are associated with central hypothyroidism.

Charlotte A Heinen1,2, Emmely M de Vries1, Mariëlle Alders3

  • 1Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Journal of Medical Genetics
|August 1, 2018
PubMed
Summary

Mutations in the IRS4 gene cause congenital central hypothyroidism (CeH) in males. This finding expands the genetic causes of CeH and suggests a link to leptin signaling disruption.

Keywords:
HPT AxisIRS4central hypothyroidismleptin

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

8.4K

Related Experiment Videos

Last Updated: Feb 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
The Lambda Select cII Mutation Detection System
07:08

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

8.4K

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Congenital central hypothyroidism (CeH) has several known genetic causes, but many cases remain unexplained.
  • This study investigated potential novel genetic factors contributing to CeH with a Mendelian inheritance pattern.

Purpose of the Study:

  • To identify new genetic causes of unexplained isolated congenital central hypothyroidism (CeH).
  • To investigate the role of the insulin receptor substrate 4 (IRS4) gene in CeH pathogenesis.

Main Methods:

  • Exome and Sanger sequencing were used to identify mutations in families and unrelated cases with CeH.
  • IRS4 mRNA expression was analyzed in human tissues and in Irs4 knockout mice.
  • Clinical, biochemical, and hormonal profiles of affected individuals and carriers were assessed.

Main Results:

  • Mutations in the IRS4 gene were identified in male patients with CeH.
  • Male carriers of IRS4 mutations exhibited CeH, with reduced free thyroxine levels.
  • IRS4 mRNA expression was detected in the human hypothalamus and pituitary gland.

Conclusions:

  • Mutations in IRS4 are a newly identified cause of isolated congenital central hypothyroidism in males.
  • The CeH phenotype associated with IRS4 mutations may result from disrupted leptin signaling pathways.