A missense variant in <i>SLC39A8</i> confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity.
第一作者:
Toru,Nakata
第一单位:
Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142.;Center for Computational and Integrative Biology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.;Department of Molecular Biology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02215.
作者:
医学主题词
等位基因(Alleles);动物(Animals);阳离子转运蛋白质类(Cation Transport Proteins);Crohn病(Crohn Disease);基因敲入技术(Gene Knock-In Techniques);内环境稳定(Homeostasis);人类(Humans);炎症(Inflammation);肠黏膜(Intestinal Mucosa);肠(Intestines);锰(Manganese);小鼠(Mice);突变, 误义(Mutation, Missense);表型(Phenotype);危险因素(Risk Factors)
DOI
10.1073/pnas.2014742117
PMID
33139556
发布时间
2021-01-14
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