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

Epigenetic Regulation01:46

Epigenetic Regulation

33.9K
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
33.9K
Epigenetic Regulation01:37

Epigenetic Regulation

3.9K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.9K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

689
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
689
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

1.1K
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
1.1K
Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

1.1K
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
1.1K
Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

583
Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
583

You might also read

Related Articles

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

Sort by
Same author

Diabetes in Turner syndrome: a distinct entity demanding specific therapeutic strategies.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology·2026
Same author

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis.

American journal of medical genetics. Part C, Seminars in medical genetics·2025
Same author

Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.

American journal of medical genetics. Part C, Seminars in medical genetics·2025
Same author

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome.

Journal of developmental biology·2022
Same author

<i>PPARGC1A</i> promoter DNA-methylation level and glucose metabolism in Ecuadorian women with Turner syndrome.

Hormone molecular biology and clinical investigation·2021
Same author

Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome.

The application of clinical genetics·2020

Related Experiment Video

Updated: Feb 12, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

3.5K

Epigenetics in Turner syndrome.

Francisco Álvarez-Nava1, Roberto Lanes2

  • 11Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito, Ecuador.

Clinical Epigenetics
|April 12, 2018
PubMed
Summary

Turner syndrome (45,X) results from X chromosome loss, causing variable features. Genetic and epigenetic factors, including DNA methylation changes, contribute to its development and clinical presentation.

Keywords:
AneuploidyChromatinDNA methylationEmbryonic stem cellsEpigeneticsGene expressionMouse modelsTurner syndrome

More Related Videos

An Engineered Split-TET2 Enzyme for Chemical-inducible DNA Hydroxymethylation and Epigenetic Remodeling
08:34

An Engineered Split-TET2 Enzyme for Chemical-inducible DNA Hydroxymethylation and Epigenetic Remodeling

Published on: December 18, 2017

7.0K
ATAC-Seq Optimization for Cancer Epigenetics Research
07:13

ATAC-Seq Optimization for Cancer Epigenetics Research

Published on: June 30, 2022

5.4K

Related Experiment Videos

Last Updated: Feb 12, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

3.5K
An Engineered Split-TET2 Enzyme for Chemical-inducible DNA Hydroxymethylation and Epigenetic Remodeling
08:34

An Engineered Split-TET2 Enzyme for Chemical-inducible DNA Hydroxymethylation and Epigenetic Remodeling

Published on: December 18, 2017

7.0K
ATAC-Seq Optimization for Cancer Epigenetics Research
07:13

ATAC-Seq Optimization for Cancer Epigenetics Research

Published on: June 30, 2022

5.4K

Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Monosomy X (45,X) is the most common human genetic abnormality, affecting ~2% of conceptions.
  • Most 45,X conceptions result in miscarriage; survivors develop Turner syndrome with diverse clinical features.
  • Turner syndrome arises from partial or complete loss of the second sex chromosome, leading to variable phenotypes.

Purpose of the Study:

  • To explore the involvement of genetic and epigenetic factors in the origin of X chromosome monosomy.
  • To review the meiotic versus post-zygotic origins of 45,X monosomy.
  • To analyze epigenetic changes in response to chromosomal imbalance.

Main Methods:

  • Comparative gene expression analysis of 45,X cells versus euploid and 47,XXX cells.
  • Analysis of studies using peripheral blood mononuclear cells, amniotic fluid, fibroblasts, and induced pluripotent stem cells.
  • Examination of DNA methylation patterns and gene expression pathways.

Main Results:

  • Chromosomal imbalance in 45,X leads to a profile of epigenetic changes.
  • Differential DNA methylation occurs in target genes within specific pathways.
  • Methylation-based and expression-based pathway analyses are complementary and correlate with clinical features.

Conclusions:

  • Understanding causal pathways can improve life expectancy for Turner syndrome patients.
  • Identifying targets for early pharmaceutical intervention is a potential future implication.
  • Clarifying genetic and epigenetic contributions offers insights into disease mechanisms.