Results 151 to 160 of about 2,529,587 (194)

Jagged-mediated lateral induction patterns Notch3 signaling within adult neural stem cell populations. [PDF]

Nat Commun
Ortica S, Martinez Herrera M, Degroux L, Rochette B, Dray N, Bally-Cuif L.   +5 more
europepmc   +1 more source

CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene

Journal of Neuroscience Research, 2009
CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. Most mutations result in a gain or loss of cysteine residue in one of the 34 epidermal growth factor-like repeats in the extracellular domain of the Notch3 protein, thus sparing
Maria Muglia, Rosalucia Mazzei, Aldo Quattrone   +2 more
exaly   +6 more sources

Unusual Clinical Presentations in Subjects Carrying Novel NOTCH3 Gene Mutations

Journal of Stroke and Cerebrovascular Diseases, 2013
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene.
Raffaele Murru, Cristina Mancosu
exaly   +5 more sources

NOTCH3 gene mutations in subjects clinically suspected of CADASIL

Journal of the Neurological Sciences, 2011
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene.
Enrico Grosso, Valeria Ada María Sansone, Anna Bersano   +2 more
exaly   +5 more sources

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A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family

Journal of Stroke and Cerebrovascular Diseases, 2019
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role
Karolina Machowska-Sempruch, Przemysław Nowacki   +1 more
exaly   +3 more sources

Notch3 Gene Amplification in Ovarian Cancer

Cancer Research, 2006
Abstract Gene amplification is one of the common mechanisms that activate oncogenes. In this study, we used single nucleotide polymorphism array to analyze genome-wide DNA copy number alterations in 31 high-grade ovarian serous carcinomas, the most lethal gynecologic neoplastic disease in women.
Joon T, Park, Mei, Li, Kentaro, Nakayama, Tsui-Lien, Mao, Ben, Davidson, Zhen, Zhang, Robert J, Kurman, Charles G, Eberhart, Ie-Ming, Shih, Tian-Li, Wang   +9 more
openaire   +2 more sources

Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL

CNS and Neurological Disorders - Drug Targets, 2017
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results from NOTCH3 gene mutations, which lead to the degeneration of vascular smooth muscle cells (VSMCs). The clinical presentation of CADASIL patients is dependent on the impact of other vascular risk factors and the type of NOTCH3 mutation present ...
Xiaoxia, Hou, Chuan, He, Qingwen, Jin, Qi, Niu, Guang, Ren, Hong, Cheng   +5 more
exaly   +3 more sources

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

Journal of Neurology, Neurosurgery & Psychiatry, 2008
CADASIL (OMIM 125310) is an increasingly recognised adult-onset autosomal-dominant vascular disease that is characterised by recurrent transient ischaemic attacks and strokes (43% of patients), vascular dementia (6%), migraine with aura (40% of patients) and psychiatric disturbances (9% of patients); epilepsy has been reported in 2–10% of subjects.1 ...
Mazzei R, Guidetti D, Ungaro C, Conforti FL, Muglia M, Cenacchi G, Lanza PL, Patitucci A, Sprovieri T, Riguzzi P, Magariello A, Gabriele AL, Citrigno L, Preda P, Quattrone A   +14 more
openaire   +6 more sources

Novel mutation of the NOTCH3 gene in a Polish family with CADASIL

Neurologia i Neurochirurgia Polska, 2016
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene
Buczek, Julia, Błażejewska-Hyżorek, Beata, Agnieszka Maria Cudna, Lusawa, Małgorzata, Lewandowska, Eliza, Kurkowska- Jastrzębska, Iwona, Anna Członkowska   +6 more
openaire   +2 more sources

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

Neurology, 2009
NA
Liguori M, Mazzei R, Ungaro C, Simone IL, Gambardella A, Plasmati I, Fera F, Aguglia U, Lanza P, Bono F, Chiumarulo L, Conforti FL, Consoli D, Quattrone A   +13 more
openaire   +6 more sources