单基因肾小球肾炎和创新疗法的演变情况

IF 12.1 1区医学 Q1 UROLOGY & NEPHROLOGY

Nature Reviews Urology Pub Date : 2024-04-17 DOI:10.1038/s41585-024-00880-0

Chen-Han Wilfred Wu, Yu-Ren Huang, Donald Bodner, Fredrick R. Schumacher, Michelle Baum, Friedhelm Hildebrandt

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引用次数: 0

摘要

单基因病因占肾炎病例的 20%，对于开发针对性治疗至关重要。全外显子组测序、全基因组关联、候选基因以及体外和动物功能研究对确定这些突变至关重要。针对单基因变异的疗法，如基于 RNA 干扰的疗法，已成功用于治疗单基因疾病。

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The evolving landscape of monogenic nephrolithiasis and therapeutic innovations

Monogenic causes account for up to 20% of nephrolithiasis instances and are crucial for developing targeted treatments. Whole-exome sequencing, genome-wide association, candidate gene, and in vitro and animal functional studies are crucial to identify these mutations. Therapies targeting monogenic variants, such as RNA-interference-based treatments, have been successfully used to treat monogenic disorders.

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来源期刊

Nature Reviews Urology 医学-泌尿学与肾脏学

CiteScore

12.50

自引率

2.60%

发文量

123

审稿时长

6-12 weeks

期刊介绍： Nature Reviews Urology is part of the Nature Reviews portfolio of journals.Nature Reviews' basic, translational and clinical content is written by internationally renowned basic and clinical academics and researchers. This journal targeted readers in the biological and medical sciences, from the postgraduate level upwards, aiming to be accessible to professionals in any biological or medical discipline. The journal features authoritative In-depth Reviews providing up-to-date information on topics within a field's history and development. Perspectives, News & Views articles, and the Research Highlights section offer topical discussions and opinions, filtering primary research from various medical journals. Covering a wide range of subjects, including andrology, urologic oncology, and imaging, Nature Reviews provides valuable insights for practitioners, researchers, and academics within urology and related fields.