Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/article/10.1007/s13353-018-0465-2/fulltext.html
Reference91 articles.
1. Acuna M, Gonzalez-Hodar L, Amigo L, Castro J, Morales MG, Cancino GI, Groen AK, Young J, Miquel JF, Zanlungo S (2016) Transgenic overexpression of Niemann-pick C2 protein promotes cholesterol gallstone formation in mice. J Hepatol 64:361–369
2. Akpovi CD, Murphy BD, Erickson RP, Pelletier R-M (2014) Dysregulation of testicular cholesterol metabolism following spontaneous mutation of the Niemann-pick C1 gene. Biol Reprod 91:1–8
3. Allison AC (1954) Protection afforded by sickle-cell trait against subtertian malarial infection. Br Med J 1:290–294
4. Araki N, Ishigami T, Ushio H, Minegishi S, umemura M, Miyagi Y, Aoi I, Morinaga H, Tamura K, Toya Y, Uchino K, Umemura S (2009) Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L. Biochem Biophys Res Commun 388:290–296
5. Bell CJ et al (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:65ra4
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man;The Cerebellum;2022-01-18
2. Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1;Scientific Reports;2020-11-02
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3