https://scholars.lib.ntu.edu.tw/handle/123456789/639963
Title: | The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank | Authors: | Lin, Eugene PO-HSIU KUO Liu, Yu-Li Wang, Tso-Jen Yang, Albert C Tsai, Shih-Jen |
Keywords: | Biobank; Blood pressure; CADASIL; Dementia; NOTCH3; Neurology; Stroke | Issue Date: | Nov-2023 | Journal Volume: | 270 | Journal Issue: | 11 | Start page/Pages: | 5536 | Source: | Journal of Neurology | Abstract: | The cysteine-altering variants in NOTCH3 have been suggested to be associated with stroke, dementia, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), where aberrant blood pressure levels represent the characteristics of these diseases. We aimed to assess whether the cysteine-altering p.Arg544Cys (p.R544C; rs201118034) variant and common single nucleotide variants (SNVs) in NOTCH3 could contribute to systolic and diastolic blood pressure and related phenotypes in the Taiwan Biobank. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/639963 | ISSN: | 03405354 | DOI: | 10.1007/s00415-023-11909-6 |
Appears in Collections: | 流行病學與預防醫學研究所 |
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