Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R449C
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NOTCH3

NM_000435.3:p.R449C

Associated Papers

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf

The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.

Felix-Ilemhenbhio F et al.

Brain Research, 2025

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 2025

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Rodriguez-Salamanca J et al.

Frontiers in Oncology, 2025

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Juhosová M et al.

Neurogenetics, 2023

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Hack RJ et al.

Stroke, 2022

35862191 (PubMed )
Supplement: str-53-3133-s001.pdf

Novel dot-blot assay for detection of vascular Notch3 aggregates in patients with CADASIL.

Ma Y et al.

Journal of the Neurological Sciences, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Serum amyloid P component: A novel potential player in vessel degeneration in CADASIL.

Nagatoshi A et al.

Journal of the Neurological Sciences, 2017

Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.

Karasaki T et al.

Cancer Science, 2017

27960040 (PubMed )
Supplement: CAS-108-170-s006.xlsx › Suppl_Table_3

Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.

Ueda A et al.

Journal of Neurology, 2015

Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.

Hassan WA et al.

International Journal of Clinical and Experimental Pathology, 2015

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

[The new diagnostic methods of CADASIL as differential diagnosis of HDLS].

Ueda A et al.

Rinsho Shinkeigaku = Clinical Neurology, 2014

Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections.

Ueda A et al.

Neuropathology and Applied Neurobiology, 2009

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C et al.

Journal of Neuroscience Research, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

CADASIL-causing mutations do not alter Notch3 receptor processing and activation.

Low WC et al.

Neuroreport, 2006

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

Hereditary vascular dementia linked to notch 3 mutations. CADASIL in British families.

Thomas NJ et al.

Annals of the New York Academy of Sciences, 2000

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