Analysis of large-scale sequencing cohorts does not support the role of variants inUCP2as a cause of hyperinsulinaemic hypoglycaemia
Author:
Affiliation:
1. Institute of Biomedical and Clinical Science; University of Exeter; Exeter UK
2. Sidra Medical & Research Center; Doha Qatar
Funder
Royal Society
Medical Research Council
Wellcome Trust
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23289/fullpdf
Reference11 articles.
1. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus;Bruining;Current Opinion in Pediatrics,1990
2. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing;Ellard;Diabetologia,2013
3. Novel hypoglycemia phenotype in congenital hyperinsulinism due to dominant mutations of uncoupling protein 2 (UCP2);Ferrara;The Journal of Clinical Endocrinology & Metabolism,2016
4. Familial hyperinsulinism caused by an activating glucokinase mutation;Glaser;New England Journal of Medicine,1998
5. Genetics of neonatal hyperinsulinism;Glaser;Archives of Disease in Childhood: Fetal and Neonatal Edition,2000
Cited by 17 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. Glucose Dysregulation Associated with Hypoglycaemia in Childhood and Adolescence;Endocrinology;2024
2. Genetics of lipodystrophy syndromes;La Presse Médicale;2021-11
3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management;Journal of Pediatric Endocrinology and Metabolism;2021-09-21
4. The mutational constraint spectrum quantified from variation in 141,456 humans;Nature;2020-05-27
5. Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management;Reviews in Endocrine and Metabolic Disorders;2020-03-17
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