This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues ...
Keikichi TakahashiSatoshi KotoriiDe-Hua ChuiKeiro ShirotaniTakeshi TabiraBirkhäuser BaselTakahashi K, Kotorii S, Chui DH, Shirotani K, Tabira T. Notch3 gene in CADASIL syndrome: mutation frequencies in Japanese and its expression and processing. In: Tanaka C, McGeer PL, Ihara Y, edi- to...
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues ...
Gene detection suggested that NOTCH3 gene mutation combined with ABCC6 gene mutation. Through the analysis of the clinical data of this case, it is helpful for clinicians to improve the recognition of hereditary cerebral small vessel disease. KEYWORDS: Cerebral small vessel disease;NOCTH3 gene;ABCC...
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c .1630C > T mutation in Notch3 gene ,the clinical manifestations of different family members can be differ‐ ent ,but MRI appearances have same characteristics . The cranial MRI can provide clues for diagnosis . KEY WORDS : CADASIL ; Notch3 gene ;c .1630C > T mutation ;clinical features...
The R544C mutation in the NOTCH3 gene has been associated with cerebral small vessel disease, which is characterized by abnormal brain vessel structure and function. In this study, we investigated the effects of the NOTCH3 R544C mutation on cerebral vascular structure and blood-brain barrier ...
Beijing 100191, China)Corresponding author: FAN Dong-sheng, E-mail: dsfan@163.com 【Abstract 】 Intracerebral hemorrhage is one of stroke subtypes with high mortality and disability. Both environmental and genetic factors play important roles in its pathogenesis. NOTCH3 is the causative gene of ce...
ConclusionsThe rs1043994 polymorphism of NOTCH3 gene is associated with WML in the elderly population, and the A allele is a susceptibility gene for WML. The rs1043994 polymorphism of the NOTCH3 gene may be a genetic risk factor for WML in the Chinese elderly population. KEYWORDS: NOTCH3 ge...
subcorticalinfarctsandleukoencephalopathy;NOTCH3gene;mutation伴 皮质下梗死及白质脑病常染色体显性遗传性脑动脉病(CADASIL)在屮、 青年脑梗死发病屮的遗传因素受到重视。目前,全世界已经有超过400 个相关CADASIL家系报道,人多数为白种人。国内2000年报道了首