Results 51 to 60 of about 14,819 (239)

Identification of Fis1 Interactors in Toxoplasma gondii Reveals a Novel Protein Required for Peripheral Distribution of the Mitochondrion [PDF]

open access: yes, 2020
Toxoplasma gondii’s single mitochondrion is very dynamic and undergoes morphological changes throughout the parasite’s life cycle. During parasite division, the mitochondrion elongates, enters the daughter cells just prior to cytokinesis, and undergoes ...
Arrizabalaga, Gustavo   +2 more
core   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard   +18 more
wiley   +1 more source

Identification of Reference Genes for Circadian Studies on Brain Microvessels and Choroid Plexus Samples Isolated from Rats

open access: yesBiomolecules, 2021
Delivery of putative compounds of therapeutic value to the brain is limited by brain barriers: the blood–brain barrier located in the endothelium of the brain microvessels (BrMVs) and the blood–cerebrospinal fluid barrier located in the epithelium of the
Aleksandra Szczepkowska   +4 more
doaj   +1 more source

The In Vitro Transgenic Rodent Assay in Primary MutaMouse Hepatocytes Compared to the Mammalian Cell Gene Mutation Assay Using the HPRT Gene

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
ABSTRACT Gene mutations can be detected in mammalian cells in vitro using indicator genes such as the hypoxanthine‐guanine‐phosphoribosyltransferase (HPRT) gene. These assays have been adopted as OECD test guidelines (TG, e.g., OECD TG no. 476) and are used for regulatory purposes.
Alina Göpfert   +5 more
wiley   +1 more source

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

open access: yesBMC Research Notes, 2017
Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism.
Eresha Jasinge   +10 more
doaj   +1 more source

The renal phenotype of allopurinol-treated HPRT-deficient mouse.

open access: yesPLoS ONE, 2017
Excess of uric acid is mainly treated with xanthine oxidase (XO) inhibitors, also called uricostatics because they block the conversion of hypoxanthine and xanthine into urate.
Cristina Zennaro   +10 more
doaj   +1 more source

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

open access: yesApplied Sciences, 2020
Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo   +4 more
doaj   +1 more source

Integrating metabolomics and network pharmacology to assess the effects of quercetin on lung inflammatory injury induced by human respiratory syncytial virus

open access: yesScientific Reports, 2023
Quercetin (QR) has significant anti-respiratory syncytial virus (RSV) effects. However, its therapeutic mechanism has not been thoroughly explored. In this study, a lung inflammatory injury model caused by RSV was established in mice.
Ya-Lei Sun   +7 more
doaj   +1 more source

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

open access: yesFrontiers in Genetics, 2023
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS).
Albandary AlBakheet   +5 more
doaj   +1 more source

Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia : results of the EORTC CLG 58881 and 58951 trials [PDF]

open access: yes, 2018
info:eu-repo/semantics ...
Benoit, Yves   +30 more
core   +2 more sources

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