hypoxanthine/atrofie

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Cerebral arterio-venous difference for hypoxanthine and lactate during graded asphyxia in the fetal lamb.

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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

Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

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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

Hypoxanthine excretion during preservation of rabbit kidneys for transplantation. An assessment of the ischaemic damage.

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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

Multifocal atrophy of cerebellar internal granular neurons in lesch-nyhan disease: case reports and review.

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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

Localization and targeting of the Leishmania donovani hypoxanthine-guanine phosphoribosyltransferase to the glycosome.

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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

Nucleobase analogs for degenerate hybridization devised through conformational pairing analysis.

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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

A single amino acid substitution in the human and a bacterial hypoxanthine phosphoribosyltransferase modulates specificity for the binding of guanine.

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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.

Expression of VEGF and angiopoietins in subfoveal membranes from patients with age-related macular degeneration.

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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)

Changes in inspiratory activity after injection of adenosine and hypoxanthine in cats.

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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

1H NMR Spectroscopy Characterization of Porcine Vitreous Humor in Physiological and Photoreceptor Degeneration Conditions.

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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

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

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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

Hypoxanthine phosphoribosyl transferase deficiency, haematopoiesis and fertility in the mouse.

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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

Synthesis of oligodeoxyribonucleotides containing degenerate bases and their use as primers in the polymerase chain reaction.

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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

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

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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

Impact of denervation-induced muscle atrophy on housekeeping gene expression in mice.

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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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