Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
DiagnosticsBackground: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang +9 more
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Molecular characterization of hypoxanthine guanine phosphoribosyltransferase mutant T cells in human blood: The concept of surrogate selection for immunologically relevant cells. [PDF]
Mutat Res Rev Mutat Res, 2022 Kaitz NA +5 more
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Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism [PDF]
, 2010 BACKGROUND: Alleles of apolipoprotein E (APOE) are the major genetic risk factor for late onset Alzheimer\u27s Disease (LOAD). Recently, an APOE splice variant that retains intron 3 (APOE-I3) was identified. To gain insight into the possible role of this
Laura S Dieter, Steven Estus
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Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer. [PDF]
AIMS Neurosci, 2021 Nguyen KV.
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A plant-derived glucocorticoid receptor modulator attenuates inflammation without provoking ligand-induced resistance [PDF]
, 2010 Background: Acquired resistance to glucocorticoids constitutes a major clinical challenge, often overlooked in the search for improved alternatives to classic steroids.
De Bosscher, Karolien +5 more
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Stress-induced anhedonia is associated with hypertrophy of medium spiny neurons of the nucleus accumbens [PDF]
, 2013 There is accumulating evidence that the nucleus accumbens (NAc) has an important role in the pathophysiology of depression. As the NAc is a key component in the neural circuitry of reward, it has been hypothesized that anhedonia, a core symptom of ...
A Dranovsky +32 more
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IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF GPCR23/LPA4 AS A CANDIDATE G PROTEIN-COUPLED RECEPTOR FOR GUANOSINE [PDF]
, 2014 La guanosina esercita diverse funzioni a livello del Sistema Nervoso Centrale, coinvolgendo recettori di membrana accoppiati a proteine G (GPCR) non ancora identificati.
GRILLO, Maria
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Hypoxanthine-Guanine Phosphoribosyltransferase Is Dispensable for Mycobacterium smegmatis Viability. [PDF]
J Bacteriol, 2020 Knejzlík Z +3 more
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Оцінювання мутагенної активності епоксидвмісних поліоксипропілентріолів у короткотривалих експериментах із використанням тканинних культур і бактерій [PDF]
, 2015 Introduction. Many chemicals polluting the environment can exert a specific impact on the body with significant general toxic effects, manifested not in the period of exposure and not immediately after it, but in remote periods in the life of individuals,
Кучерявенко, М.А.
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Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid
CellsLesch–Nyhan disease (LND) is associated with a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity due to mutations in the HPRT1 gene.
Rosa J. Torres +4 more
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