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Arthritis Rheumatol. 2020 Jan;72(1):125-136. doi: 10.1002/art.41055. Epub 2019 Dec 10.
2
Towards a new classification of systemic sclerosis.迈向系统性硬化症的新分类。
Nat Rev Rheumatol. 2019 Aug;15(8):456-457. doi: 10.1038/s41584-019-0257-z.
3
Macrophages in Systemic Sclerosis: Novel Insights and Therapeutic Implications.系统性硬化症中的巨噬细胞:新的见解与治疗意义。
Curr Rheumatol Rep. 2019 May 23;21(7):31. doi: 10.1007/s11926-019-0831-z.
4
A Machine Learning Classifier for Assigning Individual Patients With Systemic Sclerosis to Intrinsic Molecular Subsets.一种用于将系统性硬化症患者分配到内在分子亚群的机器学习分类器。
Arthritis Rheumatol. 2019 Oct;71(10):1701-1710. doi: 10.1002/art.40898. Epub 2019 Sep 2.
5
Microbiome dysbiosis is associated with disease duration and increased inflammatory gene expression in systemic sclerosis skin.微生物组失调与系统性硬化症皮肤疾病持续时间的延长和炎症基因表达的增加有关。
Arthritis Res Ther. 2019 Feb 6;21(1):49. doi: 10.1186/s13075-019-1816-z.
6
Associations of Multiple Exonic Variants with Systemic Sclerosis.多个外显子变异与系统性硬化症的关联。
J Rheumatol. 2019 Feb;46(2):184-189. doi: 10.3899/jrheum.180094. Epub 2018 Nov 15.
7
Single Cell RNA Sequencing Identifies HSPG2 and APLNR as Markers of Endothelial Cell Injury in Systemic Sclerosis Skin.单细胞 RNA 测序鉴定 HSPG2 和 APLNR 为系统性硬化症皮肤内皮细胞损伤的标志物。
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8
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Curr Rheumatol Rep. 2018 Jun 25;20(8):49. doi: 10.1007/s11926-018-0758-9.
9
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.简要报告:全外显子组测序鉴定罕见变异和基因网络,增加非裔美国人患硬皮病的易感性。
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系统性硬化症中的分子“组学”特征

Molecular "omic" signatures in systemic sclerosis.

作者信息

Mehta Bhaven K, Espinoza Monica E, Hinchcliff Monique, Whitfield Michael L

机构信息

Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.

Department of Rheumatology, Allergy & Immunology, Yale School of Medicine, New Haven, CT, USA.

出版信息

Eur J Rheumatol. 2020 Oct;7(Suppl 3):S173-S180. doi: 10.5152/eurjrheum.2020.19192. Epub 2020 Oct 1.

DOI:10.5152/eurjrheum.2020.19192
PMID:33164732
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7647683/
Abstract

Systemic sclerosis (SSc) is a connective tissue disorder characterized by immunologic, vascular, and extracellular matrix abnormalities. Variation in the proportion and/or timing of activation in the deregulated molecular pathways that underlie SSc may explain the observed clinical heterogeneity in terms of disease phenotype and treatment response. In recent years, SSc research has generated massive amounts of "omics" level data. In this review, we discuss the body of "omics" level work in SSc and how each layer provides unique insight to our understanding of SSc. We posit that effective integration of genomic, transcriptomic, metagenomic, and epigenomic data is an important step toward precision medicine and is vital to the identification of effective therapeutic options for patients with SSc.

摘要

系统性硬化症(SSc)是一种以免疫、血管和细胞外基质异常为特征的结缔组织疾病。构成SSc基础的失调分子途径中激活比例和/或时间的变化,可能解释了在疾病表型和治疗反应方面观察到的临床异质性。近年来,SSc研究产生了大量的“组学”水平数据。在本综述中,我们讨论了SSc领域“组学”水平的研究工作,以及每一层如何为我们理解SSc提供独特的见解。我们认为,基因组、转录组、宏基因组和表观基因组数据的有效整合是迈向精准医学的重要一步,对于确定SSc患者的有效治疗方案至关重要。