ArticleEMBnet.journal2019
NOTCH3 and CADASIL syndrome: a genetic and structural overview.
Article in EMBnet.journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.Brain and behavior · 2025Article
- Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.The journal of headache and pain · 2025Review
- Inducing mononuclear cells of patients with CADASIL to construct a CSVD disease model.European journal of medical research · 2025Article
- NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.Journal of the American Heart Association · 2024Article
- Article
- The glymphatic system and cerebral small vessel disease.Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2024Review
- Comparison of models for stroke-free survival prediction in patients with CADASIL.Scientific reports · 2023Observational
- Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.International journal of molecular sciences · 2023Review
- Management of Coronary Artery Disease in CADASIL Patients: Review of Current Literature.Medicina (Kaunas, Lithuania) · 2023Review
- Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease.Molecular neurobiology · 2022Article
- Transcription Factor HEY1 Improves Brain Vascular Endothelial Cell Function and Alleviates Ischemic Stroke by Upregulating NOTCH3.Neurochemical research · 2022Article
- Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.Communications biology · 2022Article
- Network Theoretical Approach to Explore Factors Affecting Signal Propagation and Stability in Dementia's Protein-Protein Interaction Network.Biomolecules · 2022Article
- Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Molecular Correlates of Hemorrhage and Edema Volumes Following Human Intracerebral Hemorrhage Implicate Inflammation, Autophagy, mRNA Splicing, and T Cell Receptor Signaling.Translational stroke research · 2021Article
- Mechanism underlying treatment of ischemic stroke using acupuncture: transmission and regulation.Neural regeneration research · 2021Review
- Vascular Dementia and Underlying Sex Differences.Frontiers in aging neuroscience · 2021Review
- Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 5 countries.
Funding
Abstract
CADASIL syndrome is a rare disease that belongs to a group of disorders called leukodystrophies. It is well established that NOTCH3 gene on chromosome 19 is primarily responsible for the development of the CADASIL syndrome. Herein, an attempt is made to shed light on the actual molecular mechanism underlying CADASIL syndrome, through insights extracted from comprehensive evolutionary studies and in silico modelling on Notch 3 protein. In particular, we suggest the use of optical coherence tomography angiography for the detection of early signs of small vessel diseases, which are the major precursors to a repertoire of neurodegenerative conditions, including CADASIL.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.