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硬皮病中的细胞和分子多样性

Cellular and Molecular Diversity in Scleroderma.

作者信息

Hinchcliff Monique, Garcia-Milian Rolando, Di Donato Stefano, Dill Karin, Bundschuh Elizabeth, Galdo Francesco Del

机构信息

Yale School of Medicine, Department of Internal Medicine, Section of Rheumatology, Allergy & Immunology, USA.

Bioinformatics Support Program, Cushing/Whitney Medical Library, New Haven, CT, USA.

出版信息

Semin Immunol. 2021 Dec;58:101648. doi: 10.1016/j.smim.2022.101648. Epub 2022 Aug 6.

Abstract

With the increasing armamentarium of high-throughput tools available at manageable cost, it is attractive and informative to determine the molecular underpinnings of patient heterogeneity in systemic sclerosis (SSc). Given the highly variable clinical outcomes of patients labelled with the same diagnosis, unravelling the cellular and molecular basis of disease heterogeneity will be crucial to predicting disease risk, stratifying management and ultimately informing a patient-centered precision medicine approach. Herein, we summarise the findings of the past several years in the fields of genomics, transcriptomics, and proteomics that contribute to unraveling the cellular and molecular heterogeneity of SSc. Expansion of these findings and their routine integration with quantitative analysis of histopathology and imaging studies into clinical care promise to inform a scientifically driven patient-centred personalized medicine approach to SSc in the near future.

摘要

随着以可承受的成本获得的高通量工具不断增加,确定系统性硬化症(SSc)患者异质性的分子基础既具有吸引力又能提供丰富信息。鉴于被诊断为同一疾病的患者临床结局差异很大,阐明疾病异质性的细胞和分子基础对于预测疾病风险、分层管理以及最终形成以患者为中心的精准医学方法至关重要。在此,我们总结了过去几年基因组学、转录组学和蛋白质组学领域的研究发现,这些发现有助于揭示SSc的细胞和分子异质性。将这些发现进行扩展,并将其与组织病理学和影像学研究的定量分析常规整合到临床护理中,有望在不久的将来为SSc提供一种以科学为驱动、以患者为中心的个性化医学方法。

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