Results 1 to 10 of about 2,529,505 (194)

Headache and NOTCH3 Gene Variants in Patients with CADASIL [PDF]

Neurology International, 2023
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited vascular disease characterized by recurrent strokes, cognitive impairment, psychiatric symptoms, apathy, and migraine.
Oliwia Szymanowicz, Izabela Korczowska-Łącka, Bartosz Słowikowski, Małgorzata Wiszniewska, Ada Piotrowska, Ulyana Goutor, Paweł P. Jagodziński, Wojciech Kozubski, Jolanta Dorszewska   +8 more
doaj   +5 more sources

Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models [PDF]

Frontiers in Molecular Neuroscience
BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common inherited cerebral small vessel diseases caused by the NOTCH3 gene mutation.
Zhenping Gong, Wan Wang, Ying Zhao, Yadan Wang, Ruihua Sun, Ruihua Sun, Haohan Zhang, Haohan Zhang, Fengyu Wang, Yaru Lu, Jiewen Zhang, Jiewen Zhang, Jiewen Zhang, Jiewen Zhang   +13 more
doaj   +5 more sources

Novel mutation of the NOTCH3 gene in Arabic family with CADASIL [PDF]

Neurology International, 2011
Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric ...
Saeed Bohlega
doaj   +5 more sources

Association between NOTCH3 gene and Parkinson’s disease based on whole-exome sequencing [PDF]

Frontiers in Aging Neuroscience, 2022
ObjectiveCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene.
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jinchen Li, Jinchen Li, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo   +19 more
doaj   +2 more sources

Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene [PDF]

Frontiers in Molecular Biosciences, 2021
Background: Autosomal dominant spinocerebellar ataxia type 37 (SCA37) and Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) result from DAB1 and NOTCH3 gene mutations, respectively.Methods: In addition to
Zhao-Wei Wang, Li-Ping Wang, Ye Du, Qi Liu   +3 more
doaj   +2 more sources

SARS-CoV-2 infection activating a novel variant of the NOTCH3 gene and subsequently causing development of CADASIL [PDF]

Archives of Medical Science, 2022
Introduction In the following study we describe the diagnostic process and further case analysis of a 30-year-old woman admitted with typical COVID-19 symptoms, who subsequently developed additional symptoms suggesting cerebral autosomal dominant ...
Zbigniew J. Król, Małgorzata Dorobek, Maciej Dąbrowski, Justyna Zielińska-Turek, Bartosz Mruk, Jerzy Walecki, Katarzyna Sklinda, Robert Gil, Agnieszka Pawlak, Marzena Wojtaszewska, Adrian Lejman, Paula Dobosz, Paweł Zawadzki, Aneta Pawłowska, Michał Szczepaniak, Dorota Król, Artur Zaczyński, Waldemar Wierzba   +17 more
doaj   +2 more sources

Analysis of Notch1 and Notch3 Signaling Pathway Components in Benign Prostatic Hyperplasia and Prostate Cancer Patients. [PDF]

J Clin Lab Anal
This study evaluates the association between Notch1 and Notch3 genetic variations and serum protein levels in patients with benign prostatic hyperplasia and prostate cancer. While genetic variations showed no significant link to disease risk, serum protein levels were significantly lower in prostate cancer and metastatic groups compared to healthy ...
Yagci E, Ozbayer C, Ozen A, Zengin G, Kurt H.   +4 more
europepmc   +2 more sources

Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant [PDF]

Brain and Behavior
Background NOTCH3 gene variants are associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Ioannis Zaganas, Ioannis Tsiverdis, Evgenia Kokosali, Ionela Litso, Minas Drakos, Irene Skoula, Alexandros Zabetakis, Lambros Mathioudakis, Vassilios Mastorodemos, Panayiotis Mitsias   +9 more
doaj   +2 more sources

Genetic study of the NOTCH3 gene in CADASIL patients

Egyptian Journal of Medical Human Genetics, 2018
Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, neurological syndrome characterized by small vessel disease (SVD), stroke, vascular cognitive impairment and ...
Seyedeh Parisa Chavoshi Tarzjani, Seyed Abolhassan Shahzadeh Fazeli, Mohammad Hossein Sanati, Zahra Mirzayee   +3 more
doaj   +3 more sources

Novel Mutation of NOTCH3 Gene in a Chinese Patient with CADASIL [PDF]

Balkan Journal of Medical Genetics
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease characterized by migraine, recurrent ischemic strokes, psychiatric disorder, and progressive cognitive ...
Lin JX, Gao X, Hou LJ, Zhang XY, Zhang X, Liu XM   +5 more
doaj   +2 more sources