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

The Thyroid Gland01:23

The Thyroid Gland

6.8K
The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
6.8K
Lumber Defects01:23

Lumber Defects

486
Lumber defects, which can affect both the appearance and structural integrity of wood, include a variety of growth and manufacturing flaws. Growth defects such as knots and knotholes occur where branches were once attached to the tree trunk, with knotholes forming when these knots fall out. Other natural defects include decay and insect damage, which compromise the wood's strength and durability.
Shakes are minor fractures that run along or across the wood's annual rings, while wane is...
486
Functions of Thyroid Hormones01:18

Functions of Thyroid Hormones

5.0K
The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
5.0K
Molecular Models02:00

Molecular Models

43.6K
Physical models representing molecular architectures of chemical compounds play essential roles in understanding chemistry. The use of molecular models makes it easier to visualize the structures and shapes of atoms and molecules.
43.6K
Synthesis and Regulation of Thyroid Hormones01:20

Synthesis and Regulation of Thyroid Hormones

7.3K
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
7.3K
Molecular Orbital Theory II03:51

Molecular Orbital Theory II

27.0K
Molecular Orbital Energy Diagrams
27.0K

You might also read

Related Articles

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

Sort by
Same author

The role of miR-335-5p in the redifferentiation of BRAF p.V600E thyroid cancers.

Molecular oncology·2026
Same author

Efficacy of anakinra in genetically associated recurrent pericarditis.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese·2026
Same author

LAMB1-related adult-onset leukoencephalopathy presenting with cognitive decline: diagnostic workup and review of the literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026
Same author

Real-world efficacy of lenvatinib/pembrolizumab combination in anaplastic thyroid carcinoma: case series from two Italian referral centers.

European thyroid journal·2026
Same author

Real-world agreement in the ultrasound classification of subcapsular thyroid nodules: comparison with expert assessment.

Thyroid research·2026
Same author

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

Genes·2026
Same journal

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026
Same journal

Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

Clinical genetics·2026
Same journal

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Clinical genetics·2026
Same journal

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

Clinical genetics·2026
Same journal

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Clinical genetics·2026
Same journal

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Clinical genetics·2026
See all related articles

Related Experiment Video

Updated: Jan 20, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

2.4K

Molecular defects in thyroid dysgenesis.

Catia Mio1, Giorgio Grani2, Cosimo Durante2

  • 1Department of Medicine, University of Udine, Udine, Italy.

Clinical Genetics
|August 22, 2019
PubMed
Summary
This summary is machine-generated.

Congenital hypothyroidism (CH) involves thyroid dysgenesis (TD), a thyroid development defect. Next-generation sequencing is advancing the identification of genes linked to TD, improving understanding of this neonatal endocrine disorder.

Keywords:
congenital hypothyroidismnext-generation sequencingnull micethyroid dysgenesis

More Related Videos

Spontaneous Murine Model of Anaplastic Thyroid Cancer
05:39

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

2.2K
A Personalized 3D-Printed Model for Preoperative Evaluation in Thyroid Surgery
04:42

A Personalized 3D-Printed Model for Preoperative Evaluation in Thyroid Surgery

Published on: February 17, 2023

1.8K

Related Experiment Videos

Last Updated: Jan 20, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

2.4K
Spontaneous Murine Model of Anaplastic Thyroid Cancer
05:39

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

2.2K
A Personalized 3D-Printed Model for Preoperative Evaluation in Thyroid Surgery
04:42

A Personalized 3D-Printed Model for Preoperative Evaluation in Thyroid Surgery

Published on: February 17, 2023

1.8K

Area of Science:

  • Endocrinology
  • Developmental Biology
  • Genetics

Background:

  • Congenital hypothyroidism (CH) is a neonatal endocrine disorder often associated with thyroid dysgenesis (TD), a defect in thyroid gland development affecting approximately 85% of cases.
  • While mouse models have identified key genes in thyroid morphogenesis, human genetic links to TD remain incompletely understood, with only 5% of cases associated with known mutations like PAX8 and TSHR.

Purpose of the Study:

  • To review the molecular underpinnings of thyroid dysgenesis (TD).
  • To summarize current knowledge of thyroid development in mice and humans.
  • To delineate the genetic features of monogenetic forms of TD and explore non-Mendelian inheritance patterns.

Main Methods:

  • Review of existing literature on thyroid development and genetics.
  • Analysis of gene mutations associated with thyroid dysgenesis (TD) in animal models and humans.
  • Discussion of next-generation sequencing (NGS) applications in identifying TD-related genes.

Main Results:

  • Thyroid-specific transcription factors identified in mouse models are crucial for thyroid morphogenesis.
  • Next-generation sequencing (NGS) is expanding the list of genes associated with highly penetrant mutations predisposing to TD.
  • A significant gap exists between genes identified in animal models and confirmed human mutations for TD.

Conclusions:

  • Understanding the genetic basis of TD is crucial for diagnosing and managing congenital hypothyroidism (CH).
  • Continued research, particularly using advanced genetic techniques like NGS, is essential to uncover the full spectrum of genes involved in TD.
  • Further investigation into non-Mendelian mechanisms is needed to explain abnormal thyroid development in a broader range of patients.