Results 71 to 80 of about 10,701 (149)

Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations

Cancer Science, EarlyView.
We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya, Yoshihiro Otani, Ryo Mizuta, Ryosuke Ikemachi, Mako Kamiura, Joji Ishida, Shinichi Toyooka, Daisuke Ennishi, Shuta Tomida, Shota Tanaka   +9 more
wiley   +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

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context

EBioMedicine
Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD).
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian   +51 more
doaj   +1 more source

Patient-Specific iPSC Model of a Genetic Vascular Dementia Syndrome Reveals Failure of Mural Cells to Stabilize Capillary Structures

Stem Cell Reports, 2019
Summary: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of genetic stroke and vascular dementia syndrome resulting from mutations in NOTCH3.
Joseph Kelleher, Adam Dickinson, Stuart Cain, Yanhua Hu, Nicola Bates, Adam Harvey, Jianzhen Ren, Wenjun Zhang, Fiona C. Moreton, Keith W. Muir, Christopher Ward, Rhian M. Touyz, Pankaj Sharma, Qingbo Xu, Susan J. Kimber, Tao Wang   +15 more
doaj   +1 more source

Cellular Signalling Networks in High Altitude Pulmonary Hypertension: From Canonical Pathways to Emerging Targets

Cell Proliferation, EarlyView.
This review elucidates the intricate cellular signalling networks involved in high‐altitude pulmonary hypertension (HAPH), integrating canonical pathways like HIF, MAPK and BMP with emerging targets such as Wnt/β‐catenin, Notch, Hippo‐YAP and IL‐6. It highlights potential therapeutic strategies targeting these pathways to mitigate vascular remodelling ...
Sheng Ding, Ju Chen, Zhaoyang Li, Yang Yu, Weijie Wang, Yan Liao, Jin Yang, Dianxiang Lu, Yujiang Fan   +8 more
wiley   +1 more source

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

The Journal of Clinical Investigation
Loss of arterial smooth muscle cells (SMCs) and abnormal accumulation of the extracellular domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a common cerebral small vessel disease caused by highly stereotyped dominant ...
Nicolas Dupré, Florian Gueniot, Valérie Domenga-Denier, Virginie Dubosclard, Christelle Nilles, David Hill-Eubanks, Christelle Morgenthaler-Roth, Mark T. Nelson, Céline Keime, Lydia Danglot, Anne Joutel   +10 more
doaj   +1 more source

A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer

The FEBS Journal, EarlyView.
Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou, Sylvia Mangani, Spyros Kremmydas, Nikolaos E. Koletsis, Nikos K. Karamanos   +4 more
wiley   +1 more source

Dimerization‐dependent NOTCH receptor transactivation unveils a class of highly selective NOTCH signalling inhibitors

The FEBS Journal, EarlyView.
NOTCH signalling is indispensable for tissue homeostasis and, consequently, corruption of its normal function promotes numerous diseases, including cancer. However, the development of targeted therapies has been hampered by inefficacy and overt toxicity. Here, we show that NOTCH receptor dimerization is necessary for receptor transactivation, which has
Xinxin Liu, Haijiang Wang, Gunja Mishra, Lin‐Ting Wu, Chao Li, Maarten van Dinther, Jin Liu, Manuel A.F.V. Gonçalves, Peter ten Dijke, David A. Baker   +9 more
wiley   +1 more source

Targeting the Notch receptor dimerization domain to inhibit Notch signalling—A new avenue of therapeutics

The FEBS Journal, EarlyView.
Notch signalling is an evolutionarily conserved signalling pathway that directs cell growth and differentiation across multiple tissue types, and its regulation must be controlled across the lifespan. Aberrant Notch signalling due to genetic mutations that occur within the negative regulatory region of the Notch 1 gene is linked to the development of ...
Gerard F Hoyne
wiley   +1 more source

A noncanonical role for Jagged1 in endothelial mechanotransduction

The FEBS Journal, EarlyView.
This study reveals a noncanonical role for Jagged1 in endothelial mechanotransduction. Shear stress modulates Jagged1 expression and subcellular localization. Loss of Jagged1 attenuates mechanotransduction and reduces Src, VEGFR2, and ERK signaling. Direct mechanical stimulation of Jagged1 induces activation of these signaling pathways.
Freddy Suarez Rodriguez, Noora Virtanen, Elmeri Kiviluoto, Rob C. H. Driessen, Feihu Zhao, Carlijn V. C. Bouten, Oscar M. J. A. Stassen, Cecilia M. Sahlgren   +7 more
wiley   +1 more source