Search Results - "Sutcliffe, Diane J"
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A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
Published in Molecular medicine (Cambridge, Mass.) (03-01-2024)“…Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an…”
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Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Published in Scientific reports (19-04-2021)“…Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme…”
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Magnetic Targeting of Human Mesenchymal Stem Cells with Internalized Superparamagnetic Iron Oxide Nanoparticles
Published in Small (Weinheim an der Bergstrasse, Germany) (09-12-2013)“…Cell therapies offer exciting new opportunities for effectively treating many human diseases. However, delivery of therapeutic cells by intravenous injection,…”
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Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease
Published in Proceedings of the National Academy of Sciences - PNAS (02-06-2020)“…Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction…”
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Striatal Subregion-selective Dysregulated Dopamine Receptor-mediated Intracellular Signaling in a Model of DOPA-responsive Dystonia
Published in Neuroscience (01-05-2023)“…•Dopamine-mediated intracellular signal is dysregulated in dystonia.•Abnormal intracellular signaling was differentially regulated in striatal subregions.•ERK…”
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Exploration of potential immune mechanisms in cervical dystonia
Published in Parkinsonism & related disorders (01-05-2024)“…Although there are many possible causes for cervical dystonia (CD), a specific etiology cannot be identified in most cases. Prior studies have suggested a…”
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Abnormalities of neural stem cells in Lesch-Nyhan disease
Published in Journal of neurogenetics (03-07-2022)“…Lesch-Nyhan disease (LND) is a neurodevelopmental disorder caused by variants in the HPRT1 gene, which encodes the enzyme hypoxanthine-guanine phosphoribosyl…”
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Circulating endothelial progenitor cells inversely associate with organ dysfunction in sepsis
Published in Intensive care medicine (01-03-2012)“…Purpose Endothelial dysfunction is a primary contributor to sepsis-related organ dysfunction and death. In sepsis animal models, endothelial progenitor cells…”
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Circulating proangiogenic cell activity is associated with cardiovascular disease risk
Published in Journal of biomolecular screening (01-10-2012)“…Vascular injury mobilizes bone marrow-derived proangiogenic cells into the circulation, where these cells can facilitate vascular repair and new vessel…”
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Proangiogenic cell colonies grown in vitro from human peripheral blood mononuclear cells
Published in Journal of biomolecular screening (01-10-2012)“…Although multiple culture assays have been designed to identify endothelial progenitor cells (EPCs), the phenotype of cells grown in culture often remains…”
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Contributions of Purine Synthesis and Recycling During Brain Development: Relevance to Lesch Nyhan Disease (S39.009)
Published in Neurology (03-05-2022)“…Abstract only…”
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Striatal ERK is Activated in Response to L‐DOPA Administration in a Knock‐in Mouse Model of DOPA‐Responsive Dystonia
Published in The FASEB journal (01-04-2018)“…Abnormal dopamine (DA) neurotransmission is associated with many dystonic disorders; however, the precise nature of the defects in DA transmission that result…”
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Abstract 1749: Endothelial Progenitor Cells and Vascular Endothelial Function Follow a Parallel Circadian Pattern
Published in Circulation (New York, N.Y.) (28-10-2008)“…Abstract only Background: Endothelial Progenitor Cells (EPCs) are mobilized in response to endothelial injury and their counts correlate with endothelial…”
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Assessment of Cytogenetic Response to Folic Acid Deprivation in Rat Lymphocytes
Published in In Vitro Cellular & Developmental Biology (01-11-1986)“…Rat lymphocyte cultures were initiated in minimal essential medium containing 0, 0.01, 1.0, or 10 mg/l of folic acid to investigate the influence of folic acid…”
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