Results 111 to 120 of about 51,551 (285)

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report

open access: yesBMC Pediatrics, 2018
Background Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Lisa B. E. Shields   +2 more
doaj   +1 more source

The prognostic effect of PTEN expression status in colorectal cancer development and evaluation of factors affecting it: MiR-21 and promoter methylation [PDF]

open access: yes, 2016
Background: PTEN is a tumor suppressor gene which is involved in cellular proliferation, differentiation, and apoptosis. Loss or down-regulation of PTEN plays an important role in human cancers development.
Azadeh, H.   +3 more
core   +1 more source

Inhibition and Mechanism of Plasmodium falciparum Hypoxanthine–Guanine–Xanthine Phosphoribosyltransferase

open access: green, 2022
Yacoba V. T. Minnow   +9 more
openalex   +2 more sources

A Golgi study of neuronal architecture in a genetic mouse model for Lesch–Nyhan disease

open access: yesNeurobiology of Disease, 2005
Lesch–Nyhan disease (LND) is an inherited disorder associated with deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme essential for purine recycling.
Ivan Mikolaenko   +4 more
doaj   +1 more source

5'-nucleotidases, nucleosides and their distribution in the brain: pathological and therapeutic implications [PDF]

open access: yes, 2013
Elements of the nucleoside system (nucleoside levels, 5'-nucleotidases (5'NTs) and other nucleoside metabolic enzymes, nucleoside transporters and nucleoside receptors) are unevenly distributed in the brain, suggesting that nucleosides have region ...
Dobolyi, Árpád   +3 more
core  

Signalling Mechanisms Underlying Doxorubicin and Nox2 NADPH Oxidase-Induced Cardiomyopathy: Involvement of Mitofusin-2 [PDF]

open access: yes, 2017
BACKGROUND AND PURPOSE: The anthracycline doxorubicin (DOX), although successful as a first-line cancer treatment, induces cardiotoxicity linked with increased production of myocardial reactive oxygen species (ROS), with Nox2 NADPH oxidase-derived ...
Dunne, Philip D   +7 more
core   +1 more source

Induction of Mineralization [PDF]

open access: yes, 2014
Vascular mineralization contributes to the high cardiovascular morbidity and mortality in patients who suffer from chronic kidney disease and in individuals who have undergone solid organ transplantation. The immunosuppressive regimen used to treat these
Giet, Markus van der   +6 more
core   +1 more source

Targeted Nucleotide Substitution in Mammalian Cell by Target-AID

open access: yesBio-Protocol, 2017
Programmable RNA-guided nucleases based on CRISPR (clustered regularly interspaced short palindromic repeats)-Cas (CRISPR-associated protein) systems have been applied to various type of cells as powerful genome editing tools. By using activation-induced
Takayuki Arazoe   +2 more
doaj   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

open access: yesData in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan   +6 more
doaj   +1 more source

Concentration and synthesis of phosphoribosylpyrophosphate in erythrocytes from normal, hyperuricemic, and gouty subjects. [PDF]

open access: yes, 1971
Phosphoribosylpyrophosphate (PRPP) synthetase activity and the intracellular concentration of PRPP were assayed in erythrocytes from patients with primary hyperuricemia and primary metabolic gout.
Meyskens, FL, Williams, HE
core  

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