Monogenic diabetes
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://www.nature.com/articles/s41572-023-00421-w.pdf
Reference157 articles.
1. Riddle, M. C. et al. Monogenic diabetes: from genetic insights to population-based precision in care. reflections from a diabetes care editors’ expert forum. Diabetes Care 43, 3117–3128 (2020).
2. Froguel, P. et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356, 162–164 (1992).
3. Vionnet, N. et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356, 721–722 (1992). Study identifying pathogenic mutations in GCK as leading to one of the most prevalent forms of monogenic diabetes.
4. American Diabetes Association Professional Practice Committee. 2. Classification and diagnosis of diabetes: standards of medical care in diabetes — 2022. Diabetes Care 45 (Suppl. 1), S17–S38 (2022).
5. Bonnefond, A. et al. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. Nat. Metab. 2, 1126–1134 (2020). A study that highlights the incomplete penetrance of pathogenic mutations in monogenic diabetes genes, which are even found in patients with suspected typical T2DM.
Cited by 23 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A synonymous KCNJ11 variant leading to MODY13: A case report and literature review;Molecular Genetics and Metabolism Reports;2024-03
2. Maturity Onset Diabetes of the Young of eleven Chinese Children;2024-01-30
3. Multifaceted nature of young-onset diabetes - can genomic medicine improve the precision of diagnosis and management?;Journal of Translational Genetics and Genomics;2024-01-19
4. Management of monogenic diabetes in pregnancy: A narrative review;World Journal of Diabetes;2024-01-15
5. Insulitis in human type 1 diabetes: lessons from an enigmatic lesion;European Journal of Endocrinology;2024-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3