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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.0K
Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

5.7K
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
5.7K
Genetic Screens02:46

Genetic Screens

5.1K
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...
5.1K
Preclinical Development: Overview01:28

Preclinical Development: Overview

4.9K
Preclinical development consists of a series of tests that ensure the safety and efficacy of a new therapeutic compound before it is tested in humans. There are four main phases to this process. First, safety pharmacology tests are conducted to ensure the drug does not produce any acutely harmful effects. These tests examine parameters such as bronchoconstriction, cardiac dysrhythmias, blood pressure changes, and ataxia. Next, preliminary toxicological testing is performed to determine the...
4.9K

You might also read

Related Articles

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

Sort by
Same author

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9<sup>+</sup> chondrocyte expansion.

Journal of human immunity·2026
Same author

The systemic effects of 22q11.2 deletion syndrome on immunity.

Journal of human immunity·2026
Same author

Dual Targeted Therapy with Baricitinib and Anifrolumab in Infantile Spondyloenchondrodysplasia with Immune Dysregulation.

Journal of clinical immunology·2025
Same author

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>.

medRxiv : the preprint server for health sciences·2025
Same author

Joint fluid multi-omics improves diagnostic confidence during evaluation of children with presumed septic arthritis.

Pediatric rheumatology online journal·2025

Related Experiment Video

Updated: Sep 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K

Informed clinical decisions by outfoxing human FOXN1 variants.

Christian A Wysocki1, Nicolai S C van Oers2

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Tex; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Tex.

The Journal of Allergy and Clinical Immunology
|June 8, 2025
PubMed
Summary

Forkhead box N1 (FOXN1) mutations impact T-cell development and epithelial cell function. Understanding FOXN1 variant effects improves clinical care for immunodeficiency and related conditions.

Keywords:
CIDFOXN1, thymic epithelial cellsSCIDT-cell immunodeficiencyTECsTRECsthymic implantsthymopoiesis

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

536

Related Experiment Videos

Last Updated: Sep 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

536

Area of Science:

  • Immunology
  • Genetics
  • Developmental Biology

Background:

  • Thymic epithelial cells (TECs) are crucial for T-cell development, regulated by the transcription factor forkhead box N1 (FOXN1).
  • FOXN1 mutations cause nude immunodeficiency syndrome, affecting thymus and skin/nail development.
  • Increased identification of FOXN1 variants due to newborn screening and genetic sequencing.

Purpose of the Study:

  • To review and categorize the clinical impacts of diverse FOXN1 variants.
  • To correlate FOXN1 mutation type and location with protein function and clinical outcomes.
  • To provide functional insights into FOXN1 for improved clinical management.

Main Methods:

  • Literature review and analysis of clinical data associated with FOXN1 variants.
  • Categorization of mutations based on type (biallelic, monoallelic) and location.
  • Correlation of genotype with phenotype, including T-cell lymphopenia and thymic aplasia.

Main Results:

  • FOXN1 variants exhibit a spectrum of effects, from benign to pathogenic.
  • Most identified FOXN1 mutations are currently classified as variants of unknown significance.
  • Monoallelic FOXN1 variants can act in a dominant-negative manner, causing transient T-cell lymphopenia.

Conclusions:

  • Understanding the functional impact of FOXN1 variants is essential for accurate diagnosis and patient management.
  • Categorizing FOXN1 mutations aids in predicting clinical outcomes and guiding treatment decisions.
  • This review offers key functional insights into FOXN1, enhancing clinical care for associated disorders.