scholarly journals Activating NOTCH3 Mutation

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

Notch3 Mutation Detection in Stroke Patients and Selective Nanoliposome in Stroke Alleviation in a Mouse Model

2021 ◽  
Vol 17 (9) ◽  
pp. 1735-1744
Author(s):  
Yanxia Wang ◽  
Xinmeng Li ◽  
Ying Liu ◽  
Wenjing Guo ◽  
Jiangpo Chen ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Mouse Model ◽  
Control Group ◽  
Stroke Therapy ◽  
Stroke Patients ◽  
Brain Vessels ◽  
Stroke Treatment ◽  
Pathological Alteration ◽  
Notch3 Mutation ◽  
Long Term Prognosis

This study analyzed the correlation between the Notch3 mutation and stroke by testing an effective nanoparticle-loaded aspirin in stroke therapy. Fifty patients with ischemic stroke were followed for two years, and fifty healthy persons served as the control group. By RT-PCR, this study revealed that the Notch3 mutation existed in ischemic stroke patients who were more likely to have a family history, small vessel lesions, relatively frequent cerebral hemorrhage, and poor long-term prognosis. Liposome-aspirin-chitosan nanoparticle (LACN) was constructed as a nano-composite for stroke treatment. Notch3 Arg170Cys knock-in mice were prepared as a mutant Notch3 mouse model to test the LACN infiltration efficiency and observe the anti-stroke capacity. We found that LACN could better transport aspirin into brain vessels than the Polyethyleneimine (PEI) delivery system. However, in the Notch3 mutation mouse model, cerebral infarction and hemorrhage often occurred after being treated with aspirin. Still, LACN better prolongs the half-life of aspirin, rescues the pathological alteration of stroke in the brain, and reduces inflammatory reaction and oxidative stress response. In conclusion, the Notch3 mutation is closely related to stroke occurrence, and LACN may be a better choice for stroke therapy in the future.

scholarly journals Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation

2018 ◽  
Vol 28 ◽  
pp. 16-20 ◽  
Author(s):  
Héctor Fernández-Susavila ◽  
Cristina Mora ◽  
Marta Aramburu-Núñez ◽  
Rita Quintas-Rey ◽  
Susana Arias ◽  
...  
Keyword(s):  
Blood Cells ◽  
Ipsc Line ◽  
Notch3 Mutation ◽  
Human Ipsc

A New Notch3 Mutation for CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) Disease. A Family Reports (P05.075)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.075-P05.075
Author(s):  
M. A. Zea-Sevilla ◽  
E. Toribio-Diaz ◽  
P. Bermejo-Velasco
Keyword(s):  
Autosomal Dominant ◽  
Notch3 Mutation

Identification of a Notch3 Mutation in a Japanese CADASIL Family

1999 ◽  
Vol 13 (4) ◽  
pp. 222-225 ◽  
Author(s):  
Kohei Kamimura ◽  
Keikichi Takahashi ◽  
Eiichiro Uyama ◽  
Makoto Tokunaga ◽  
Satoshi Kotorii ◽  
...  
Keyword(s):  
Notch3 Mutation

scholarly journals No vessel wall abnormalities in a human foetus with a NOTCH3 mutation

2008 ◽  
Vol 115 (3) ◽  
pp. 369-370 ◽  
Author(s):  
Saskia A. J. Lesnik Oberstein ◽  
Marion L. C. Maat–Schieman ◽  
Elles M. J. Boon ◽  
Joost Haan ◽  
Martijn H. Breuning ◽  
...  
Keyword(s):  
Vessel Wall ◽  
Human Foetus ◽  
Notch3 Mutation

scholarly journals A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL

PLoS ONE ◽  
2014 ◽  
Vol 9 (8) ◽  
pp. e104533 ◽  
Author(s):  
Wei Ge ◽  
Hanzhe Kuang ◽  
Bin Wei ◽  
Le Bo ◽  
Zhice Xu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Notch3 Mutation

CADASIL with a Novel NOTCH3 Mutation (Cys478Tyr)

2015 ◽  
Vol 24 (3) ◽  
pp. e61-e62 ◽  
Author(s):  
Kokoro Ozaki ◽  
Takashi Irioka ◽  
Kinya Ishikawa ◽  
Hidehiro Mizusawa
Keyword(s):  
Notch3 Mutation

scholarly journals Clinical Significance of Cerebral Microbleeds Locations in CADASIL with R544C NOTCH3 Mutation

PLoS ONE ◽  
2015 ◽  
Vol 10 (2) ◽  
pp. e0118163 ◽  
Author(s):  
Jung Seok Lee ◽  
Chul-hoo Kang ◽  
Sukh Que Park ◽  
H. Alex Choi ◽  
Ki-Bum Sim
Keyword(s):  
Clinical Significance ◽  
Cerebral Microbleeds ◽  
Notch3 Mutation

Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain

2008 ◽  
Vol 29 (3) ◽  
pp. 452-452 ◽  
Author(s):  
Charles Fouillade ◽  
Hugues Chabriat ◽  
Florence Riant ◽  
Manuèle Mine ◽  
Minh Arnoud ◽  
...  
Keyword(s):  
Small Vessel Disease ◽  
Small Vessel ◽  
Vessel Disease ◽  
Notch3 Mutation ◽  
The Brain

High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

2009 ◽  
Vol 462 (2) ◽  
pp. 176-178 ◽  
Author(s):  
Alessia Cappelli ◽  
Michele Ragno ◽  
Gabriella Cacchiò ◽  
Maria Scarcella ◽  
Paolo Staffolani ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Notch3 Mutation
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