Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R75Q
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NOTCH3

NM_000435.3:p.R75Q

Associated Papers

Genetic and imaging features of CADASIL patients with acute ischemic stroke.

Park JY et al.

Scientific Reports, 2025

40379656 (PubMed )
Supplement: 41598_2025_220_MOESM1_ESM.docx

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.

Heidari P et al.

The Journal of Headache and Pain, 2025

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.

Wang Y et al.

Frontiers in Neurology, 2025

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

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

Mutant NOTCH3ECD Triggers Defects in Mitochondrial Function and Mitophagy in CADASIL Cell Models.

Wang W et al.

Journal of Alzheimer's Disease : Jad, 2024

Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models.

Gong Z et al.

Frontiers in Molecular Neuroscience, 2024

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.

Takei J et al.

Frontiers in Neurology, 2023

Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage.

Chen CH et al.

European Journal of Neurology, 2022

35781912 (PubMed )
Supplement: supplement_1.docx

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.

Kim Y et al.

International Journal of Molecular Sciences, 2022

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Zhang X et al.

Pulmonary Circulation, 2022

Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

Ueda A et al.

Frontiers in Neurology, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease.

Liu JY et al.

Stroke, 2021

The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

Guo L et al.

Cns Neuroscience & Therapeutics, 2021

Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

Lin J et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.

Kim H et al.

Plos One, 2020

Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.

Kim Y et al.

Medicina (kaunas, Lithuania), 2019

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.

Liu X et al.

Journal of the Neurological Sciences, 2015

BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma.

Alakus H et al.

Journal of Translational Medicine, 2015

25889843 (PubMed )
Supplement: 12967_2015_485_MOESM1_ESM.xlsx › Table_S5

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE et al.

Neurobiology of Aging, 2014

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL et al.

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."