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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617499 | PMC |
| http://dx.doi.org/10.11604/pamj.2022.42.270.36599 | DOI Listing |
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NOTCH3 Mutation Causes Glymphatic Impairment and Promotes Brain Senescence in CADASIL.
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January 2025
Department of Neurology, Mental and Neurological Disease Research Center, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Aims: The aim of this study is to investigate the role of glymphatic function of cerebral autosomal dominant arteriopathy, subcortical infarcts, and leukoencephalopathy (CADASIL), the most common monogenic small vessel disease caused by NOTCH3 mutation, and to explore potential therapeutic strategies to improve glymphatic function.
Methods: We assessed glymphatic influx and efflux function in CADASIL mouse models (Notch3) and correlated these findings with brain atrophy in CADASIL patients. We also investigated the underlying mechanisms of glymphatic impairment, focusing the expression of AQP4 in astrocytic endfeet.
Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
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Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
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Jules Stein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
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Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
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