伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种常染色体显性遗传性脑小血管疾病。多发性硬化是一种中枢神经系统的炎症性脱髓鞘疾病。两者在临床表现和影像学特征上有较多类似之处,易造成误诊。本文报道1例因颅内和脊髓同时发生病变,最初诊断为多发性硬化,最终经基因检测明确诊断为Notch受体3(Notch ...
吴慧敏, 游咏, 陈斌WU Huimin, YOU Yong, CHEN Bin
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Background and purpose: Abnormal expression and amplification of transforming growth factor beta 1 (TGF-β1) and Notch3 in ovarian carcinoma tissues are associated with metastasis and low survival rate, respectively.
周韵娇, 王婧姝, 梁 凡
doaj
Synergistic effects of mutation and glycosylation on disease progression
Glycosylation, a post-translational modification, plays a crucial role in proper localization and function of proteins. It is regulated by multiple glycosyltransferases and can be influenced by various factors.
Shodai Suzuki +3 more
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An in trans NOTCH3 loss-of-function variant modifies disease severity in CADASIL: A family-based study. [PDF]
Lan SC +6 more
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A novel missense variant Cys559Gly in <i>NOTCH3</i> in CADASIL family and vascular lesions in patients with migraine. [PDF]
Jastrzębski K +4 more
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Decoding notch signaling pathway: an updated insight into its role in colorectal cancer progression and therapy. [PDF]
Molavand M +3 more
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Shared molecular features and candidate pathways underlying gastric cancer-depression comorbidity: a systems biology analysis. [PDF]
Liu B +6 more
europepmc +1 more source
Integrative analysis of single-cell RNA sequencing, bulk RNA sequencing, and proteomic data identified NOTCH3 as a hub gene contributing to human intervertebral disc fibrosis. [PDF]
Ding Q +6 more
europepmc +1 more source
Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature. [PDF]
Ahmed AM, Mistry N, Gehad AS, Hassan AM.
europepmc +1 more source
Correction: Endothelial cells regulate mesangial cells through the Dll4/Notch3 axis to participate in glomerular injury in lupus nephritis. [PDF]
Guo H +6 more
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