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hypoxanthine/atrophy

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Hypoxanthine (HX) and lactate are degradation products from energy-rich intracellular substrates (ATP and glycogen), and their concentration will increase during anaerobic conditions, such as fetal asphyxia. In this study the accumulation of the two metabolites in blood during asphyxia was studied
There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than
The loss of 5'-adenine nucleotides from kidney tissue subjected to acute ischaemia can be indirectly estimated by washing out the end product of catabolism, hypoxanthine, from the ischaemic tissue to the perfusate. As a correlation has previously been demonstrated between the duration of the
The neuropathologic findings in 31 cases (aged 6 months to 33 years) of Lesch-Nyhan disease (hypoxanthine-guanine phosphoribosyltransferase deficiency) have been previously reported. Herein 2 additional cases, a 10-year-old boy and a 21-year-old man, are described. Both cases had unusual cerebellar
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a key enzyme in the purine salvage pathway of many protozoan parasites. The predicted amino acid sequences of certain HGPRT proteins from parasites of the Trypanosomatidae family reveal a COOH-terminal tripeptide signal that is consistent
A conformational pairing analysis was used to devise nucleobase analogs capable of forming nonselective and energetically favorable base pairs opposite either the purine or the pyrimidine constituents of nucleic acids. 5-methylisocytosine and isoguanine were conceived as a degenerate pyrimidine and
Early studies involving purine salvage in Salmonella typhimurium resulted in the isolation and identification of a mutant strain possessing a genetically modified hypoxanthine phosphoribosyl-transferase (HPRT) with enhanced substrate specificity for guanine [Benson, C. E., and Gots, J. S. (1975) J.
OBJECTIVE Vascular endothelial growth factor (VEGF) and angiopoietins are key regulators of angiogenesis. The purpose of this study was to measure mRNA levels of these factors and of their receptors in surgically excised subfoveal membranes from patients with age-related macular degeneration (AMD)
The effects of intra-arterial and intravenous injections of adenosine and hypoxanthine were investigated with special reference to respiratory variables in anesthetized young cats. Studies were made of the effects on inspiratory activity (phrenic nerve activity), heart rate, blood pressure and
Qualitative and quantitative analysis of vitreous humor (VH) is important to discriminate between physiological and pathological conditions and may be particularly helpful when using animal models for ophthalmologic research. The aim of the present study was to investigate the
OBJECTIVE Multiple studies demonstrate a strong association between three variants at chromosome 10q26 - rs10490924, del443ins54, and rs11200638 - near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related
We have looked for effects of deficiency in hypoxanthine phosphoribosyl transferase (HPRT) in the mouse comparable to non-behavioural consequences of HPRT-deficiency in humans. HPRT-deficient humans show abnormalities in haematopoiesis and, in heterozygotes, there is strong selection in
Heptadecaoligodeoxyribonucleotides containing one or more of the bases, 6H,8H-3,4-dihydropyrimido[4,5-c][1,2]oxazin-7-one (P), 2-amino-6-methoxyaminopurine (K), and hypoxanthine (I) and combinations of P with K and I have been synthesised on a DNA synthesiser. The stability of duplexes containing
Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing. This work
BACKGROUND Immobilization induced by experimental denervation leads to rapid and progressive alterations in structural and biochemical properties of skeletal muscle. Real-time reverse transcription-polymerase chain reaction (RT-PCR) is a popular method of elucidating the molecular mechanisms
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