Overproduction of Uric Acid in Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [PDF]
N. Lawrence Edwards+2 more
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Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus derived cDNA expression vector. [PDF]
Human cells are, in general, poor recipients of foreign DNA, which has severely hampered the cloning of genes by direct phenotypic correction of deficient human cell lines after DNA mediated gene transfer. In this communication a methodology is presented
Backendorf, C.M.P. (Claude)+5 more
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Tryptic peptide analysis of normal and mutant forms of hypoxanthine phosphoribosyltransferase from HeLa cells. [PDF]
Gregory Milman+2 more
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Effects of long-term soluble vs. insoluble dietary fiber intake on high-fat diet-induced obesity in C57BL/6J mice [PDF]
Although most of the proposed beneficial effects of fiber consumption have been attributed to viscous and gel-forming properties of soluble fiber, it is mainly insoluble cereal fiber and whole grains that are strongly associated with reduced diabetes ...
Andreas F.H. Pfeiffer+36 more
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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
8-AZAGUANINE RESISTANCE IN MAMMALIAN CELLS I. HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE [PDF]
Frances D. Gillin+3 more
openalex +1 more source
A carbon dioxide-dependent small-colony variant of Escherichia coli SH4888 was isolated from blood cultures of a patient with cholangitis. To date, little is known regarding the molecular mechanisms leading to formation of carbon dioxide-dependent ...
Takehisa Matsumoto+7 more
doaj
Reduced extracellular matrix accumulation in the sclera of myopic eyes leads to increased ocular extensibility and is related to reduced levels of scleral transforming growth factor-β (TGF-β).
Gentle, Alex+4 more
core
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang+9 more
doaj +1 more source
Оцінювання мутагенної активності епоксидвмісних поліоксипропілентріолів у короткотривалих експериментах із використанням тканинних культур і бактерій [PDF]
Introduction. Many chemicals polluting the environment can exert a specific impact on the body with significant general toxic effects, manifested not in the period of exposure and not immediately after it, but in remote periods in the life of individuals,
Кучерявенко, М.А.
core