Pub. Date : 2020 Dec
PMID : 33161844
5 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population. | Cysteine | notch receptor 3 | Homo sapiens |
2 | BACKGROUND AND PURPOSE: Cysteine altering NOTCH3 variants, which have previously been exclusively associated with the rare hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, have a population frequency of 1:300 worldwide. | Cysteine | notch receptor 3 | Homo sapiens |
3 | Using a large population database, and taking genotype as a starting point, we aimed to determine whether individuals harboring a NOTCH3 cysteine altering variant have a higher load of small vessel disease markers on brain magnetic resonance imaging than controls, as well as a higher risk of stroke and cognitive impairment. | Cysteine | notch receptor 3 | Homo sapiens |
4 | The case group consisted of individuals harboring a NOTCH3 cysteine altering variant (n=118). | Cysteine | notch receptor 3 | Homo sapiens |
5 | CONCLUSIONS: Cysteine altering NOTCH3 variants are an important contributor to the risk of stroke, lacunes, and white matter hyperintensities in the elderly population. | Cysteine | notch receptor 3 | Homo sapiens |