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[人类多种分子疾病的本质]

[Nature of diverse molecular diseases in man].

作者信息

Zasukhina G D

出版信息

Arkh Patol. 1976;38(12):69-75.

PMID:1016091
Abstract

The article comprises the literature data on a new group of enzymopathies in man associated with the defect of the cell reparative mechanisms, which in the norm restore damages of DNA induced by factors of a different character. Special attention is paid to molecular processes observed in the hereditary disease in man--xeroderma characterized by a high sensitivity of the patient to ultraviolet irradiation and by a high incidence of cancer of the skin. Experimental evidences are presented testifying to an elevated sensitivity of cells of such patients to carcinogens, some viruses, and illustrating peculiar features of formation of structural mutations of chromosomes induced by physical, chemical and biological agents. Defects of individual enzymes of reparation in progeria, Fanconi's anemia and some other human diseases are described. The author recommends to simulate defects of reparative enzymes on diploid human cells infected with the virus of leukemia.

摘要

本文包含有关人类一组新的酶病的文献资料,这些酶病与细胞修复机制缺陷相关,正常情况下细胞修复机制可修复由不同性质因素引起的DNA损伤。特别关注在人类遗传性疾病——着色性干皮病中观察到的分子过程,该病患者对紫外线辐射高度敏感,皮肤癌发病率高。文中给出了实验证据,证明此类患者的细胞对致癌物、某些病毒敏感性升高,并阐明了物理、化学和生物因子诱导染色体结构突变形成的独特特征。还描述了早衰症、范科尼贫血和其他一些人类疾病中个体修复酶的缺陷。作者建议在感染白血病病毒的二倍体人类细胞上模拟修复酶的缺陷。

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Cross-link repair in human cells and its possible defect in Fanconi's anemia cells.
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