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HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain
Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange,...
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Finding the effect of missense-SNPs on protein structures and functions of HPRT1 using different tools
The hypoxanthine–guanine/phosphoribosyl transferase (HGPRT) enzyme is pivotal for purine-nucleotide (IMP) because it catalyzes the transmutation of...
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Assessment of reference genes for qRT-PCR normalization to elucidate host response to African swine fever infection
Viral infection disrupts the normal regulation of the host gene’s expression. In order to normalise the expression of dysregulated host genes upon...
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Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas
Temozolomide (TMZ) is a standard treatment for glioblastoma (GBM) patients. However, TMZ has moderate therapeutic effects due to chemoresistance of...
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Selection and validation of reference genes for the normalization of quantitative real-time PCR in different muscle tissues of rabbits
BackgroundIn molecular biology studies, the selection of optimal reference genes is of vital importance for accurately quantifying gene expression....
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Selection of species specific panel of reference genes in peripheral blood mononuclear cells of native livestock species adapted to trans-Himalayan region of Leh-Ladakh
The identification of appropriate references genes is an integral component of any gene expression-based study for getting accuracy and reliability...
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SCG5 and MITF may be novel markers of copper metabolism immunorelevance in Alzheimer’s disease
The slow-develo** neurological disorder Alzheimer’s disease (AD) has no recognized etiology. A bioinformatics investigation verified copper...
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Synthetic reversed sequences reveal default genomic states
Pervasive transcriptional activity is observed across diverse species. The genomes of extant organisms have undergone billions of years of evolution,...
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Reference Gene Validation in the Embryonic and Postnatal Brain in the Rat Hyperhomocysteinemia Model
Maternal hyperhomocysteinemia (HCY) induced by genetic defects in methionine cycle enzymes or vitamin imbalance is known to be a pathologic factor...
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Xanthine oxidoreductase inhibition ameliorates high glucose-induced glomerular endothelial injury by activating AMPK through the purine salvage pathway
Xanthine oxidoreductase (XOR) contributes to reactive oxygen species production. We investigated the cytoprotective mechanisms of XOR inhibition...
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HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout
Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch–Nyhan syndrome), partial HPRT deficiency causes HPRT-related...
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Purine salvage–associated metabolites as biomarkers for early diagnosis of esophageal squamous cell carcinoma: a diagnostic model–based study
Esophageal squamous cell carcinoma (ESCC) remains an important health concern in develo** countries. Patients with advanced ESCC have a poor...
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Selection of reference genes in liproxstatin-1-treated K562 Leukemia cells via RT-qPCR and RNA sequencing
BackgroundReverse transcription quantitative polymerase chain reaction (RT-qPCR) can accurately detect relative gene expression levels in biological...
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Comprehensive blood metabolomics profiling of Parkinson’s disease reveals coordinated alterations in xanthine metabolism
Parkinson’s disease (PD) is a highly heterogeneous disorder influenced by several environmental and genetic factors. Effective disease-modifying...
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Integrating metabolomics and network pharmacology to assess the effects of quercetin on lung inflammatory injury induced by human respiratory syncytial virus
Quercetin (QR) has significant anti-respiratory syncytial virus (RSV) effects. However, its therapeutic mechanism has not been thoroughly explored....
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Identification and validation of stable reference genes for quantitative real time PCR in different minipig tissues at developmental stages
BackgroundQuantitative real time PCR (qPCR) is a powerful tool to evaluate mRNA expression level. However, reliable qPCR results require...
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Selection of suitable reference genes for gene expression studies in HMC3 cell line by quantitative real-time RT-PCR
Microglia represent the primary immune defense system within the central nervous system and play a role in the inflammatory processes occurring in...
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Reference gene selection in bovine caruncular epithelial cells under pregnancy-associated hormones exposure
Examination of transcriptional regulation occurring during pregnancy establishment and maintenance requires the identification of endogenous...
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Discovering functionally important sites in proteins
Proteins play important roles in biology, biotechnology and pharmacology, and missense variants are a common cause of disease. Discovering...
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X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a...