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

Insufficient Sleep and Sleep Deprivation01:13

Insufficient Sleep and Sleep Deprivation

137
Insufficient sleep refers to not getting the recommended amount of sleep for optimal functioning, even if it's just slightly less than needed. Sleep insufficiency may occur due to lifestyle choices, such as staying up late for social events or work, resulting in routinely getting less sleep than required. For example, consistently sleeping 6 hours when the body needs 7-9 hours can lead to cumulative effects on health and well-being.
Sleep deprivation is a more severe form of sleep loss...
137
Circadian Rhythms and Gene Regulation02:19

Circadian Rhythms and Gene Regulation

4.0K
The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent...
4.0K
Notch Signaling Pathway03:14

Notch Signaling Pathway

4.2K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.2K
REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

163
REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
163
Sleep-Wake Cycles01:24

Sleep-Wake Cycles

1.2K
Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
1.2K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.1K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.1K

You might also read

Related Articles

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

Sort by
Same author

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

HGG advances·2026
Same author

Sleep Disturbances and Male Reproductive Dysfunction: Pathophysiological Mechanisms Linking Obstructive Sleep Apnea and Sleep Deprivation.

Comprehensive Physiology·2026
Same author

Association between homocysteine and periodic limb movement during sleep in samples from the São Paulo epidemiological sleep study (EPISONO): Homocysteine and PLMS in the EPISONO study.

Sleep and biological rhythms·2026
Same author

The great awakening: A 15-year bibliometric analysis of the global surge in sleep research.

Sleep & breathing = Schlaf & Atmung·2026
Same author

Nephrolithiasis and obstructive sleep apnea: exploring shared pathways of inflammation, oxidative stress, and circadian disruption.

World journal of urology·2026
Same author

Reproductive toxicity induced by a repeated 28-day oral exposure to a commercial mixture of the herbicides S-metolachlor and flumioxazin in male rats.

Chemico-biological interactions·2026

Related Experiment Video

Updated: Jun 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K

Sleep disturbances associated with DEAF1 pathogenic variants.

Pedro Guerreiro1, Mariana Moysés-Oliveira1, Mayara Paschalidis1

  • 1Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|August 22, 2024
PubMed
Summary

Genetic variants in the DEAF1 gene are linked to neurodevelopmental disorders and insomnia. This study identified immune processes, proteolysis, and cell cycle regulation as potential molecular mechanisms underlying this association.

Keywords:
DANDDEAF1circadian clockcircadian rhythmgenetic variantsinsomnianeurodevelopmental disorderssleep

More Related Videos

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
06:23

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice

Published on: September 22, 2020

5.3K
Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
04:33

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression

Published on: April 26, 2024

630

Related Experiment Videos

Last Updated: Jun 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
06:23

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice

Published on: September 22, 2020

5.3K
Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
04:33

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression

Published on: April 26, 2024

630

Area of Science:

  • Genetics
  • Neuroscience
  • Sleep Medicine

Background:

  • Neurodevelopmental disorders and sleep disturbances often share common genetic risk factors.
  • Pathogenic variants in the DEAF1 gene are associated with rare syndromes frequently exhibiting sleep disturbances.
  • The specific sleep disorders and molecular mechanisms linking DEAF1 variants to sleep issues remain largely unknown.

Purpose of the Study:

  • To identify specific biological processes disrupted by pathogenic DEAF1 variants.
  • To elucidate the molecular mechanisms underlying sleep disturbances in individuals with DEAF1 variants.
  • To investigate the association between DEAF1 regulatory targets and insomnia-associated genes.

Main Methods:

  • Comparative analysis of DEAF1 regulatory target genes and insomnia-associated genes.
  • Pathway enrichment analysis of intersecting gene lists.
  • Identification of biological pathways potentially affected by DEAF1 mutations.

Main Results:

  • Thirty-nine DEAF1 regulatory targets were also identified as insomnia-associated genes.
  • The intersecting gene list was significantly associated with immune processes.
  • Enrichment analysis revealed strong associations with ubiquitin-mediated proteolysis and cell cycle regulation pathways.

Conclusions:

  • Pathogenic DEAF1 mutations may disrupt immune processes, ubiquitin-mediated proteolysis, and cell cycle regulation.
  • These disrupted pathways are potential factors contributing to insomnia in patients with DEAF1 variants.
  • This study provides preliminary insights into the molecular underpinnings of sleep disturbances associated with DEAF1 genetic variations.