Results 41 to 50 of about 16,426 (214)

CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3

, 2018
Najczęstszą genetycznie uwarunkowaną chorobą małych naczyń związaną z udarami i naczyniopochodnym otępieniem jest mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią (cerebral autosomal dominant arteriopathy with ...
Magdalena Obrembska, Łukasz Kępczyński, Karol Jastrzębski, Andrzej Głąbiński, Katarzyna Turoboś, Elżbieta Miller, Agnieszka Sobczyńska-Tomaszewska   +6 more
core   +1 more source

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation [PDF]

Acta Neuropathologica Communications, 2015
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small- to medium sized arterioles.
Rutten, J.W., Klever, R.R., Hegeman, I.M., Poole, D.S., Dauwerse, H.G., Broos, L.A.M., Breukel, C., Aartsma-Rus, A.M., Verbeek, J.S., Weerd, L. van der, Duinen, S.G. van, Maagdenberg, A.M.J.M. van den, Oberstein, S.A.J.L.   +12 more
openaire   +3 more sources

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene

, 2012
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small vessel caused by mutations in the NOTCH3 gene (NCBI Gene ID: 4854) located on chromosome 19p13.1.
Griffiths, L.R., Menon, S., Maksemous, N, Roy, Bishakha, Smith, Robert, Smith, R.A., Griffiths, Lyn, Maksemous, N., Davies, G., Roy, B, Davis, Gail, Smith, RA, Griffiths, LR, Menon, S, Roy, B., Davies, G, Menon, Saras, Maksemous, Neven   +17 more
core   +1 more source

Patient with CADASIL – a diagnostic challenge

Annales Academiae Medicae Silesiensis, 2023
INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically determined and hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene.
Julia Węgrzynek, Agnieszka Tomaszewska, Angelika Wawrzkiewicz-Witkowska   +2 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

notch3 is essential for oligodendrocyte development and vascular integrity in zebrafish

Disease Models & Mechanisms, 2013
SUMMARY Mutations in the human NOTCH3 gene cause CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
Andreas Zaucker, Sara Mercurio, Nitzan Sternheim, William S. Talbot, Florence L. Marlow   +4 more
doaj   +1 more source

Perivascular Matrix Densification Dysregulates Angiogenesis and Activates Pro‐Inflammatory Endothelial Cells

Advanced Science, EarlyView.
Perivascular matrix densification promotes the emergence of aberrant endothelial tip cells (ATECs) that invade and persist within fibrotic microenvironments. Using in vivo lineage tracing and a human microvessel model, this study shows that fibrous matrix cues destabilize VE‐cadherin–mediated junctions to gate TGF‐β signaling, inducing a pro ...
Jingyi Xia, William Y. Wang, Kyle A. Jacobs, Kairav Maniar, Daphne Lin, Evan H. Jarman, Daniel L. Matera, Kristen Loesel, Christopher D. Davidson, Harrison L. Hiraki, Xiaotian Tan, Eve H. Shikanov, Robert N. Kent, Carole Parent, Xudong Fan, Ariella Shikanov, Matthew L. Kutys, Brendon M. Baker   +17 more
wiley   +1 more source

Activation of ERBB4 Pathway Inhibits Pathological Transdifferentiation of Lung Epithelial Progenitors into CD66c+ Basal Cells in Severe Lung Injury

Advanced Science, EarlyView.
In fibrotic distal lung regions, CD66c+ basal cells emerge as a pathological state. Using human distal lung organoids, this study identifies CD66c+ basal cells as a pro‐fibrotic state arising through transdifferentiation from secretory, AT2, and basal cells.
Kaijun Lin, Xinran Deng, Haonan Wang, Yamei Jiang, Jian Sun, Hailin Ding, Ming Ye, Xiaoting Wang, Yu Wang, Li Yuan, Zhenju Song, Xinhua Lin, Shenfei Sun, Ning Jiang   +13 more
wiley   +1 more source

Association of NOTCH3 Gene Polymorphisms with Ischemic Stroke and Its Subtypes: A Meta-Analysis

Medicina, 2019
Background and objectives: NOTCH3 gene variations play a significant role in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Loo Keat Wei, Lyn R. Griffiths, Irene Looi, Cheah Wee Kooi   +3 more
doaj   +1 more source

IKKβ and USP28 Regulate HEY1 Stability to Promote Cancer Stemness and Immune Evasion in Hepatocellular Carcinoma

Advanced Science, EarlyView.
The uncovered IKKβ‐USP28‐HEY1 axis fuels cancer stemness and immune evasion in hepatocellular carcinoma. USP28 deubiquitinates HEY1 upon IKKβ‐mediated phosphorylation, conferring PD‐1/PD‐L1 blockade resistance. Pharmacological inhibition of USP28 sensitizes resistant tumors to anti‐PD‐1 immunotherapy, revealing a promising therapeutic strategy ...
Na Shao, Lin Zhang, Gufang Shen, Yangfan Lv, Tianshu Fang, Ya Cao, Qiongyi Zhang, Feng Xu, Chungang Liu   +8 more
wiley   +1 more source