Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

Sandra J. Engle; Michael G. Stockelman; Ju Chen

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Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

机译：腺嘌呤磷酸核糖转移酶缺陷的小鼠发展2,8-二羟基腺嘌呤肾结石症

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Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homol- ogous recombination in embryonic stem cells was used to produce mice that lack APRT. Mice homozygous for a null Aprt allele excrete adenine and DHA crystals in the urine.

机译：人体中的腺嘌呤磷酸核糖基转移酶（APRT）缺乏症是一种常染色体隐性遗传综合征，其特征在于尿液中腺嘌呤和高度不溶性化合物2,8-二羟基腺嘌呤（DHA）的排泄会产生肾结石或肾衰竭。胚胎干细胞中的靶向同源重组可用于产生缺乏APRT的小鼠。纯净的小鼠的Aprt等位基因无效，在尿液中分泌腺嘌呤和DHA晶体。

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《Proceedings of the National Academy of Sciences of the United States of America》 |1996年第11期|p.5307-5312|共6页
作者
Sandra J. Engle; Michael G. Stockelman; Ju Chen;
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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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正文语种 eng
中图分类自然科学总论;
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专利

1. Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis [J] . Li Wang, Nandita Raikwar, Li Deng, Kidney international. . 2000,第2期

机译：2,8-二羟基腺嘌呤肾结石症小鼠肾脏中基因表达的改变
2. SIBLING CASE OF ADENINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY FOUND WITH ORANGE COLORED SPOTS ON A DIAPER: URINARY EXCRETION OF 2,8-DIHYDROXYADENINE CRYSTALS LED TO THE DIAGNOSIS OF ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN SIBLINGS OF 5-YEARS- [J] . Shigeru SEKIGUCHI, Yukihiro IDA, Toya OHASHI Jikeikai Medical Journal . 1997,第4期

机译：在尿布上发现橙色色斑的腺嘌呤磷酸核糖转移酶缺乏症的平息案例：尿液中2,8-二氧杂萘啶晶体LED的诊断为单核腺嘌呤磷酸核糖转移酶5-磷酸缺乏症的诊断
3. 2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney. [J] . Chen J, Chen Y, Capizzi S, Urology . 2010,第4期

机译：2,8-二羟基腺嘌呤肾结石症在小鼠肾脏中诱导基因表达的发育阶段特异性改变。
4. Chemometric optimization of UPLC-MS/MS assay for rapid determination of urinary 2,8-dihydroxyadenine for monitoring of pharmacologic therapy in APRT deficient patients [C] . Margret Thorsteinsdottir, Baldur Bragi Sigurdsson, Vidar O Edvardsson, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2012

机译：UPLC-MS / MS测定的化学计量优化，用于快速测定尿2,8-二羟基腺嘌呤，以监测APRT缺陷患者的药理学治疗
5. Hemicellulose Extraction of Biomass to Develop High Valued Hemicellulose-Based Products [D] . Geng, Wenhui. 2019

机译：生物质的半纤维素萃取，以开发高耐受半纤维素的产物
6. Adenine phosphoribosyltransferase-deficient mice develop 28-dihydroxyadenine nephrolithiasis. [O] . S J Engle, M G Stockelman, J Chen, 1996

机译：腺嘌呤磷酸核糖转移酶缺陷的小鼠发展28-二羟基腺嘌呤肾结石病。
7. Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. [O] . Engle, S J, Stockelman, M G, Chen, J, 1996

机译：腺嘌呤磷酸核糖转移酶缺陷的小鼠发展2,8-二羟基腺嘌呤肾结石病。
8. Enhanced Solubility of 2,8 Dihydroxyadenine (DOA) in Human Urine. [R] . Peck, C. C., Bailey, F. J., Moore, G. L. 1977

机译：增强2,8二羟基腺嘌呤（DOa）在人尿中的溶解度。

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

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