https://scholars.lib.ntu.edu.tw/handle/123456789/639963
標題: | The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank | 作者: | Lin, Eugene PO-HSIU KUO Liu, Yu-Li Wang, Tso-Jen Yang, Albert C Tsai, Shih-Jen |
關鍵字: | Biobank; Blood pressure; CADASIL; Dementia; NOTCH3; Neurology; Stroke | 公開日期: | 十一月-2023 | 卷: | 270 | 期: | 11 | 起(迄)頁: | 5536 | 來源出版物: | Journal of Neurology | 摘要: | 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 |
顯示於: | 流行病學與預防醫學研究所 |
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