Results 71 to 80 of about 23,019 (220)

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   +1 more source

Does Notch play a tumor suppressor role across diverse squamous cell carcinomas? [PDF]

, 2016
The role of Notch pathway in tumorigenesis is highly variable. It can be tumor suppressive or pro-oncogenic, typically depending on the cellular context.
Biswas, Sangita, Deng, Wenbing, Gong, Wenrong, Qin, Xin, Yu, Hongjun, Zhang, Min   +5 more
core   +1 more source

CADASIL mutations impair Notch3 glycosylation by Fringe [PDF]

Human Molecular Genetics, 2005
Mutations in the NOTCH3 gene trigger adult-onset stroke and vascular dementia in patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). All CADASIL mutations described to date affect the epidermal growth factor-like (EGF-like) repeats located in the extracellular domain of the Notch3 receptor.
Joseph F, Arboleda-Velasquez, Raajit, Rampal, Erik, Fung, Diane C, Darland, Min, Liu, Maria C, Martinez, Christine P, Donahue, Manuel F, Navarro-Gonzalez, Peter, Libby, Patricia A, D'Amore, Masanori, Aikawa, Robert S, Haltiwanger, Kenneth S, Kosik   +12 more
openaire   +2 more sources

Impact of Genomic Mutations on the Transcriptional Pathways and Tumor Microenvironment Landscape of Localized Early Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background The management of intermediate‐risk early prostate cancer (PCa) is challenging due to the difficulty in distinguishing indolent from aggressive tumors. This study explores the association between genomic alterations and the tumor and its microenvironment (TME) and implications for disease progression. Methods We performed multi‐omic
William Lautert‐Dutra, Camila M. Melo, Luiz P. Chaves, Francisco C. Souza, Vida Talebian, Cheryl Crozier, Mary Anne Quintayo, Linda Liao, Dan Dion, Fabiano P. Saggioro, Felipe S. Avante, Rodolfo B. dos Reis, Jeremy A. Squire, Jane Bayani   +13 more
wiley   +1 more source

A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells.

PLoS ONE
Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities.
Ernesto Canalis, Jungeun Yu, Lauren Schilling, Paymaan Jafar-Nejad, Michele Carrer   +4 more
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Extracellular domain shedding of NOTCH3 during endocytosis associated with heterogeneity between different CADASIL mutant activation mechanisms

Cell Communication and Signaling
Background Mutations in NOTCH3 cause CADASIL, a dominantly inherited condition, linked to recurrent stroke and vascular dementia and associated with accumulation of the ECD of NOTCH3. The latter has a toxic effect on VSMCs.
Samira Hosseini-Alghaderi, Martin Baron
doaj   +1 more source

Notch3 and Its Clinical Importance in Ovarian Cancer

Drugs and Drug Candidates
Background: Ovarian cancer (OC) is the most prevalent gynecological malignancy in women, often diagnosed at an advanced stage due to the absence of specific clinical biomarkers.
Bimal Prasad Jit, Alisha Behera, Sahar Qazi, Khushi Mittal, Subhadip Kundu, Babul Bansal, MD Ray, Ashok Sharma   +7 more
doaj   +1 more source

Common NOTCH3 Variants and Cerebral Small-Vessel Disease. [PDF]

, 2015
BACKGROUND AND PURPOSE: The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations.
Adib-Samii, Poneh, Bevan, Steve, Boncoraglio, Giorgio, Dichgans, Martin, Hassan, Ahamad, Levi, Christopher, Markus, Hugh S, Meschia, James, Rosand, Jonathan, Rost, Natalia S, Rothwell, Peter M, Rutten-Jacobs, Loes CA, Sudlow, Cathie, Thijs, Vincent, Traylor, Matthew   +14 more
core   +2 more sources

NOTCH3 Variants and Risk of Ischemic Stroke

PLoS ONE, 2013
Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid.
Ross, Owen A., Soto-Ortolaza, Alexandra I., Heckman, Michael G., Verbeeck, Christophe, Serie, Daniel J., Rayaprolu, Sruti, Rich, Stephen S., Nalls, Michael A., Singleton, Andrew, Guerreiro, Rita, Kinsella, Emma, Wszolek, Zbigniew K., Brott, Thomas G., Brown, Robert D., Worrall, Bradford B., Meschia, James F.   +15 more
openaire   +5 more sources