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

Notch Signaling Pathway03:14

Notch Signaling Pathway

4.3K
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...
4.3K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

15
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
15
Role Of Notch Signalling In Intestinal Stem Cell Renewal01:12

Role Of Notch Signalling In Intestinal Stem Cell Renewal

2.1K
Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
2.1K
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

18
Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
18
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

12
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
12

You might also read

Related Articles

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

Sort by
Same author

Exploratory analysis of pupillography-based machine learning for assessing autonomic dysfunction in multiple sclerosis.

Multiple sclerosis and related disorders·2026
Same author

Leukocytoclastic vasculitis presenting with optic neuropathy.

Acta neurologica Belgica·2026
Same author

Corrigendum to "Clinical and cognitive outcomes in Ocrelizumab-treated MS patients: Insights into the wearing-off phenomenon" [Multiple Sclerosis and Related Disorders, Volume 103, November 2025, 106689].

Multiple sclerosis and related disorders·2026
Same author

Neuro-behcet's syndrome: epidemiology, mechanisms, and emerging strategies in diagnosis and treatment.

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

Clinical, radiological, and CSF features distinguishing spinal dural arteriovenous fistula from idiopathic transverse myelitis and seropositive NMOSD-/MOGAD-associated myelopathy: a retrospective observational study.

Scientific reports·2026
Same author

Real-world effectiveness and safety of eculizumab in AQP4-IgG-positive neuromyelitis optica spectrum disorder.

Journal of neurology·2026

Related Experiment Video

Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

NOTCH3 Variants in Patients with Suspected CADASIL.

Orhan Gorukmez1, Ozlem Gorukmez1, Ali Topak1

  • 1Department of Medical Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.

Annals of Indian Academy of Neurology
|November 16, 2023
PubMed
Summary

Genetic analysis of NOTCH3 mutations in 368 patients revealed that 12% had cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL). This hereditary small vessel disease shows varied clinical and radiological features.

Keywords:
CADASILNGSNOTCH3

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.2K
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

11.0K

Related Experiment Videos

Last Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.2K
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

11.0K

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most prevalent hereditary cerebral small vessel disease.
  • CADASIL is characterized by clinical, radiological, and genetic heterogeneity.
  • The condition is primarily caused by mutations in the NOTCH3 gene.

Purpose of the Study:

  • To investigate NOTCH3 mutations in patients with suspected CADASIL.
  • To correlate genetic findings with clinical and radiological features.
  • To identify novel NOTCH3 variants in a large patient cohort.

Main Methods:

  • Next-generation sequencing was employed to analyze the NOTCH3 gene.
  • 368 patients with suspected CADASIL were included in the study.
  • Detected variants were analyzed alongside patient clinical and radiological data.

Main Results:

  • Heterozygous NOTCH3 variants, predominantly missense mutations, were identified in approximately 12% (44 out of 368) of patients.
  • A total of 30 distinct NOTCH3 variants were detected, with 17 being novel.
  • No clear genotype-phenotype correlation was observed.

Conclusions:

  • NOTCH3 mutations are confirmed as a cause of CADASIL.
  • The study identified novel variants, expanding the known mutation spectrum.
  • CADASIL presents a heterogeneous phenotype irrespective of the specific NOTCH3 variant, highlighting the complexity of the disease.