scholarly journals NOTCH3 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Notch3 Gene

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

2011 ◽  
Vol 258 (9) ◽  
pp. 1632-1636 ◽  
Author(s):  
Raffaella Valenti ◽  
Silvia Bianchi ◽  
Francesca Pescini ◽  
Camilla D’Eramo ◽  
Domenico Inzitari ◽  
...  
Keyword(s):  
Pathogenic Mutation ◽  
Notch3 Gene ◽  
First Report

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

2008 ◽  
Vol 79 (1) ◽  
pp. 108-110 ◽  
Author(s):  
R Mazzei ◽  
D Guidetti ◽  
C Ungaro ◽  
F L Conforti ◽  
M Muglia ◽  
...  
Keyword(s):  
Notch3 Gene

scholarly journals The epigenetic factor BORIS/CTCFL regulates the NOTCH3 gene expression in cancer cells

2014 ◽  
Vol 1839 (9) ◽  
pp. 813-825 ◽  
Author(s):  
Michele Zampieri ◽  
Fabio Ciccarone ◽  
Rocco Palermo ◽  
Samantha Cialfi ◽  
Claudio Passananti ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cancer Cells ◽  
Notch3 Gene ◽  
Epigenetic Factor

A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene

2001 ◽  
Vol 193 (1) ◽  
pp. 43-47 ◽  
Author(s):  
G.R de Freitas ◽  
J Miklossy ◽  
S Christen-Zäch ◽  
M Reichhart ◽  
J Bogousslavsky
Keyword(s):  
Skin Biopsy ◽  
Normal Skin ◽  
Notch3 Gene

Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL

2019 ◽  
Vol 19 (1) ◽  
pp. 35-42
Author(s):  
Xiangyu Chen ◽  
Sheng Deng ◽  
Hongbo Xu ◽  
Deren Hou ◽  
Pengzhi Hu ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Han Chinese ◽  
Notch Receptor ◽  
Chinese Patients ◽  
Common Disease ◽  
Common Mutation ◽  
Notch3 Gene ◽  
Genetic Causes

Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant, inherited, systemic, vascular disorder primarily involving the small arteries. It is characterized by migraine, recurrent ischemic strokes, cognitive decline, and dementia. Mutations in the Notch receptor 3 gene (NOTCH3) and the HtrA serine peptidase 1 gene (HTRA1) are 2 genetic causes for CADASIL. The NOTCH3 gene, located on chromosome 19p13.12, is the most common disease-causing gene in CADASIL. Objective: To investigate genetic causes in 2 unrelated Han-Chinese patients with presentations strongly suggestive of CADASIL. Methods: Exome sequencing was performed on both patients and potential pathogenic mutations were validated by Sanger sequencing. Results: This study reports on 2 unrelated Han-Chinese patients with presentations strongly suggestive of CADASIL, identifying that NOTCH3 mutations were the genetic cause. A common mutation, c.268C>T (p.Arg90Cys), and a novel mutation, c.331G>T (p.Gly111Cys) in the NOTCH3 gene, were detected and confirmed in the patients, respectively, and were predicted to be deleterious based on bioinformation analyses. Conclusions: We identified 2 NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. Our findings broaden the mutational spectrum of the NOTCH3 gene accountable for CADASIL. Clinical manifestations supplemented with molecular genetic analyses are critical for accurate diagnosis, the provision of genetic counseling, and the development of therapies for CADASIL.

scholarly journals R141C Mutation of NOTCH3 Gene in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

2017 ◽  
Vol 08 (02) ◽  
pp. 301-303
Author(s):  
Halil Onder ◽  
Kemal Kurtcu ◽  
Ethem Murat Arsava ◽  
Mehmet Akif Topcuoglu
Keyword(s):  
Autosomal Dominant ◽  
Notch3 Gene

Screening for NOTCH3 Gene Mutations Among 151 Consecutive Korean Patients with Acute Ischemic Stroke

2013 ◽  
Vol 22 (5) ◽  
pp. 608-614 ◽  
Author(s):  
Jay Chol Choi ◽  
Keun-Hwa Lee ◽  
Sook-Keun Song ◽  
Jung Seok Lee ◽  
Sa-Yoon Kang ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Gene Mutations ◽  
Notch3 Gene ◽  
Korean Patients

A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

2007 ◽  
Vol 376 (1-2) ◽  
pp. 229-232 ◽  
Author(s):  
Kam-Ming Au ◽  
Ho-Lun Li ◽  
Bun Sheng ◽  
Tat-Chong Chow ◽  
Mo-Lung Chen ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Notch3 Gene
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