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抗磷脂综合征中基因组学和表观遗传学的新进展。

New advances in genomics and epigenetics in antiphospholipid syndrome.

机构信息

Rheumatology Service, Maimonides Institute of Biomedical Research of Cordoba (IMIBIC), Reina Sofia University Hospital, University of Córdoba, Córdoba, Spain.

Centre for Rheumatology Research, Division of Medicine, University College London, London, UK.

出版信息

Rheumatology (Oxford). 2024 Feb 6;63(SI):SI14-SI23. doi: 10.1093/rheumatology/kead575.

Abstract

APS patients exhibit a wide clinical heterogeneity in terms of the disease's origin and progression. This diversity can be attributed to consistent aPL profiles and other genetic and acquired risk factors. Therefore, understanding the pathophysiology of APS requires the identification of specific molecular signatures that can explain the pro-atherosclerotic, pro-thrombotic and inflammatory states observed in this autoimmune disorder. In recent years, significant progress has been made in uncovering gene profiles and understanding the intricate epigenetic mechanisms and microRNA changes that regulate their expression. These advancements have highlighted the crucial role played by these regulators in influencing various clinical aspects of APS. This review delves into the recent advancements in genomic and epigenetic approaches used to uncover the mechanisms contributing to vascular and obstetric involvement in APS. Furthermore, we discuss the implementation of novel bioinformatics tools that facilitate the investigation of these mechanisms and pave the way for personalized medicine in APS.

摘要

APS 患者在疾病的起源和进展方面表现出广泛的临床异质性。这种多样性可以归因于一致的 aPL 谱和其他遗传和获得性风险因素。因此,要了解 APS 的病理生理学,就需要确定特定的分子特征,这些特征可以解释在这种自身免疫性疾病中观察到的动脉粥样硬化、血栓形成和炎症状态。近年来,在揭示基因谱以及理解调节其表达的复杂表观遗传机制和 miRNA 变化方面取得了重大进展。这些进展强调了这些调节剂在影响 APS 各种临床方面的关键作用。本综述深入探讨了用于揭示导致 APS 血管和产科受累的机制的基因组和表观基因组方法的最新进展。此外,我们还讨论了新型生物信息学工具的应用,这些工具有助于研究这些机制,并为 APS 的个体化医学铺平道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e883/10846911/9a2698c0bed6/kead575f1.jpg

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