{"title":"铜转运的初级缺陷是小鼠斑驳突变体的基础","authors":"D. M. HUNT","doi":"10.1038/249852a0","DOIUrl":null,"url":null,"abstract":"THE results presented here show that a primary defect in copper transport underlies the mottled syndrome in the mouse. The X-linked mottled mutants thus offer an excellent system for the study of mammalian copper metabolism. They also provide an animal model of the inherited human copper deficiency, Menkes kinky hair disease1,2, which is also X-linked.","PeriodicalId":18787,"journal":{"name":"Nature","volume":"249 5460","pages":"852-854"},"PeriodicalIF":48.5000,"publicationDate":"1974-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/249852a0","citationCount":"285","resultStr":"{\"title\":\"Primary defect in copper transport underlies mottled mutants in the mouse\",\"authors\":\"D. M. HUNT\",\"doi\":\"10.1038/249852a0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"THE results presented here show that a primary defect in copper transport underlies the mottled syndrome in the mouse. The X-linked mottled mutants thus offer an excellent system for the study of mammalian copper metabolism. They also provide an animal model of the inherited human copper deficiency, Menkes kinky hair disease1,2, which is also X-linked.\",\"PeriodicalId\":18787,\"journal\":{\"name\":\"Nature\",\"volume\":\"249 5460\",\"pages\":\"852-854\"},\"PeriodicalIF\":48.5000,\"publicationDate\":\"1974-06-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1038/249852a0\",\"citationCount\":\"285\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature\",\"FirstCategoryId\":\"103\",\"ListUrlMain\":\"https://www.nature.com/articles/249852a0\",\"RegionNum\":1,\"RegionCategory\":\"综合性期刊\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MULTIDISCIPLINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature","FirstCategoryId":"103","ListUrlMain":"https://www.nature.com/articles/249852a0","RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
引用次数: 285
摘要
本文的研究结果表明,铜转运的主要缺陷是小鼠斑驳综合征的基础。因此,X 连锁斑驳突变体为研究哺乳动物的铜代谢提供了一个极好的系统。它们还为同样是 X 连锁的遗传性人类铜缺乏症--门克氏症(Menkes kinky hair disease)1,2 提供了一个动物模型。
Primary defect in copper transport underlies mottled mutants in the mouse
THE results presented here show that a primary defect in copper transport underlies the mottled syndrome in the mouse. The X-linked mottled mutants thus offer an excellent system for the study of mammalian copper metabolism. They also provide an animal model of the inherited human copper deficiency, Menkes kinky hair disease1,2, which is also X-linked.
期刊介绍:
Nature is a prestigious international journal that publishes peer-reviewed research in various scientific and technological fields. The selection of articles is based on criteria such as originality, importance, interdisciplinary relevance, timeliness, accessibility, elegance, and surprising conclusions. In addition to showcasing significant scientific advances, Nature delivers rapid, authoritative, insightful news, and interpretation of current and upcoming trends impacting science, scientists, and the broader public. The journal serves a dual purpose: firstly, to promptly share noteworthy scientific advances and foster discussions among scientists, and secondly, to ensure the swift dissemination of scientific results globally, emphasizing their significance for knowledge, culture, and daily life.