Chen-Han Wilfred Wu, Yu-Ren Huang, Donald Bodner, Fredrick R. Schumacher, Michelle Baum, Friedhelm Hildebrandt
{"title":"The evolving landscape of monogenic nephrolithiasis and therapeutic innovations","authors":"Chen-Han Wilfred Wu, Yu-Ren Huang, Donald Bodner, Fredrick R. Schumacher, Michelle Baum, Friedhelm Hildebrandt","doi":"10.1038/s41585-024-00880-0","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":19088,"journal":{"name":"Nature Reviews Urology","volume":null,"pages":null},"PeriodicalIF":12.1000,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Reviews Urology","FirstCategoryId":"3","ListUrlMain":"https://www.nature.com/articles/s41585-024-00880-0","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.