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Showing 1-20 of 4,644 results
  1. 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,...

    Andrey Y. Vinokurov, Vladislav O. Soldatov, ... Andrey Y. Abramov in Molecular Neurobiology
    Article Open access 21 February 2023
  2. 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...

    Mohammed I. Jameel, Mokhtar J. Al-Imam, Ismael H. Mohammed in Applied Nanoscience
    Article 17 May 2023
  3. 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...

    Swaraj Rajkhowa, Joyshikh Sonowal, ... Vivek Kumar Gupta in Brazilian Journal of Microbiology
    Article 04 July 2024
  4. 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...

    Jianxing Yin, **efeng Wang, ... Xu Qian in Nature Communications
    Article Open access 22 September 2023
  5. Selection and validation of reference genes for the normalization of quantitative real-time PCR in different muscle tissues of rabbits

    Background

    In molecular biology studies, the selection of optimal reference genes is of vital importance for accurately quantifying gene expression....

    Mengke Ni, Zhichao Li, ... Huifen Xu in BMC Zoology
    Article Open access 15 December 2022
  6. 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...

    Manish Tiwari, Monika Sodhi, ... Manishi Mukesh in Scientific Reports
    Article Open access 02 November 2022
  7. 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...

    **anbo Zhuang, Yitong **a, ... Guifeng Zhang in Scientific Reports
    Article Open access 13 June 2024
  8. 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,...

    Brendan R. Camellato, Ran Brosh, ... Jef D. Boeke in Nature
    Article Open access 06 March 2024
  9. 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...

    Anna A. Kovalenko, Alexander P. Schwarz, ... Alexander V. Arutjunyan in Neurotoxicity Research
    Article 29 February 2024
  10. 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...

    Keum-** Yang, Hwa** Park, ... Yu Ah Hong in Scientific Reports
    Article Open access 15 May 2024
  11. 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...

    Eikan Mishima, Takayasu Mori, ... Takaaki Abe in CEN Case Reports
    Article 03 March 2020
  12. 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...

    Yawen Sun, Wenjuan Liu, ... **ming Yu in Cell Death Discovery
    Article Open access 14 March 2024
  13. Selection of reference genes in liproxstatin-1-treated K562 Leukemia cells via RT-qPCR and RNA sequencing

    Background

    Reverse transcription quantitative polymerase chain reaction (RT-qPCR) can accurately detect relative gene expression levels in biological...

    Hai-Qun Dong, Xue-Ying Hu, ... Peng Cheng in Molecular Biology Reports
    Article 02 January 2024
  14. 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...

    Elisa Gómez de Lope, Rebecca Ting Jiin Loo, ... Gelani Zelimkhanov in npj Parkinson's Disease
    Article Open access 19 March 2024
  15. 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....

    Ya-Lei Sun, Pei-Pei Zhao, ... Bin Yuan in Scientific Reports
    Article Open access 17 May 2023
  16. Identification and validation of stable reference genes for quantitative real time PCR in different minipig tissues at developmental stages

    Background

    Quantitative real time PCR (qPCR) is a powerful tool to evaluate mRNA expression level. However, reliable qPCR results require...

    Jeongah Song, Jeonghee Cho, ... Jeong Ho Hwang in BMC Genomics
    Article Open access 13 August 2022
  17. 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...

    Martina Fazzina, Matteo Bergonzoni, ... Raffaella Casadei in Scientific Reports
    Article Open access 29 January 2024
  18. 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...

    Magdalena Sozoniuk, Monika Jamioł, ... Krzysztof Kowalczyk in Scientific Reports
    Article Open access 26 July 2022
  19. 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...

    Matteo Cagiada, Sandro Bottaro, ... Kresten Lindorff-Larsen in Nature Communications
    Article Open access 13 July 2023
  20. 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...

    Markus Scholz, Katrin Horn, ... Cristian Pattaro in Nature Communications
    Article Open access 18 January 2024
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