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Reply to Zhu et al.: Implications of and in the pathobiology of myasthenia gravis.

作者信息

Chia Ruth, Saez-Atienzar Sara, Drachman Daniel B, Traynor Bryan J

机构信息

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892.

Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287.

出版信息

Proc Natl Acad Sci U S A. 2022 Sep 9;119(36):e2209096119. doi: 10.1073/pnas.2209096119. Epub 2022 Aug 15.

DOI:10.1073/pnas.2209096119
PMID:35969799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9459306/
Abstract
摘要

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本文引用的文献

1
Novel genes/loci validate the small effect size of ERBB2 in patients with myasthenia gravis.新基因/基因座证实了ERBB2在重症肌无力患者中的微小效应大小。
Proc Natl Acad Sci U S A. 2022 Sep 9;119(36):e2207273119. doi: 10.1073/pnas.2207273119. Epub 2022 Aug 15.
2
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.重症肌无力的遗传风险基因座鉴定和基因及通路的优先级排序：全基因组关联研究。
Proc Natl Acad Sci U S A. 2022 Feb 1;119(5). doi: 10.1073/pnas.2108672119.
3
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.系统地优先考虑所有已发表的人类 GWAS 性状关联基因座的因果变异和基因的开放方法。
Nat Genet. 2021 Nov;53(11):1527-1533. doi: 10.1038/s41588-021-00945-5. Epub 2021 Oct 28.
4
Open Targets Platform: supporting systematic drug-target identification and prioritisation.Open Targets 平台：支持系统性药物靶点识别和优先级排序。
Nucleic Acids Res. 2021 Jan 8;49(D1):D1302-D1310. doi: 10.1093/nar/gkaa1027.
5
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.开放靶点遗传学：利用大规模遗传学和功能基因组学系统地识别与性状相关的基因。
Nucleic Acids Res. 2021 Jan 8;49(D1):D1311-D1320. doi: 10.1093/nar/gkaa840.
6
A genetics-led approach defines the drug target landscape of 30 immune-related traits.遗传学主导的方法定义了 30 种免疫相关特征的药物靶点景观。
Nat Genet. 2019 Jul;51(7):1082-1091. doi: 10.1038/s41588-019-0456-1. Epub 2019 Jun 28.
7
Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase.ARIA诱导乙酰胆碱受体基因表达需要丝裂原活化蛋白激酶的激活。
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8
ErbB3 and ErbB2/neu mediate the effect of heregulin on acetylcholine receptor gene expression in muscle: differential expression at the endplate.
EMBO J. 1995 Sep 1;14(17):4258-66. doi: 10.1002/j.1460-2075.1995.tb00100.x.