Results 41 to 50 of about 34,291 (223)

Trp53 Deficiency Increases the Frequency of Hprt Mutant T Lymphocytes Following High‐LET Iron Particle Irradiation of Mice [PDF]

open access: yesEnviron Mol Mutagen
ABSTRACT Charged particles like iron‐56 ions impose health risks in long‐term manned space exploration. This study was designed to define the impact of Trp53 status upon the manifestation of mutations in the hypoxanthine‐guanine phosphoribosyltransferase (Hprt) gene in splenic T‐cells following exposure of Trp53 wild‐type, hemizygous, and nullizygous ...
Walker V   +3 more
europepmc   +2 more sources

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

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

open access: yesJournal of Biological Chemistry, 1968
Abstract The mechanism of reaction of human erythrocyte hypoxanthine-guanine phosphoribosyltransferase was investigated by initial velocity, product inhibition, and isotope exchange studies. Although initial velocity data are compatible with a mechanism involving binary enzyme-substrate complexes, the product inhibition and isotope exchange studies ...
J F, Henderson   +4 more
openaire   +2 more sources

Fine structure of the human hypoxanthine phosphoribosyltransferase gene. [PDF]

open access: yesMolecular and Cellular Biology, 1986
The human hypoxanthine phosphoribosyltransferase (HPRT) gene has been characterized by molecular cloning, mapping, and DNA sequencing techniques. The entire gene, which is about 44 kilobases in length, is composed of nine exon elements. The positions of the introns within the coding sequence are identical to those of the previously-characterized mouse ...
P I, Patel   +3 more
openaire   +2 more sources

Real-time PCR primer sequences for amplification of 17βHSD7 gene, and for housekeeping gene hypoxanthine phosphoribosyltransferase (HPRT).

open access: yes, 2012
Real-time PCR primer sequences for amplification of 17βHSD7 gene, and for housekeeping gene hypoxanthine phosphoribosyltransferase (HPRT).
Gang Chen (107840)   +8 more
core   +1 more source

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

open access: yes, 1969
The urate pool and daily turnover of urate, together with the rate of incorporation of glycine into urate, were measured in three asymptomatic mothers who had sons with various degrees of deficiency of hypoxanthine-guanine phosphoribosyltransferase ...
Emmerson, B. T., Wyngaarden, J. B.
core   +1 more source

Gas-Phase Studies of Hypoxanthine-Guanine-(Xanthine) Phosphoribosyltransferase (HG(X)PRT) Substrates

open access: yes, 2023
The gas-phase acidity and proton affinity of nucleobases that are substrates for the enzyme Plasmodium falciparum hypoxanthine-guanine-(xanthine) phosphoribosyltransferase (Pf HG(X)PRT) have been examined using both computational and experimental methods.
Lanxin Zhang   +5 more
core   +1 more source

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

open access: yesRenal Failure, 2020
Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari   +6 more
doaj   +1 more source

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

open access: yesAdvanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes   +14 more
wiley   +1 more source

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