Hepatocyte Nuclear Factor 4α Gene Mutation Associated with Familial Neonatal Hyperinsulinism and Maturity-Onset Diabetes of the Young
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference15 articles.
1. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4α regulates expression of genes required for glucose transport and metabolism;Stoffel;Proc Natl Acad Sci USA,1997
2. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes;Harries;PLoS One,2009
3. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young;Fajans;N Engl J Med,2001
4. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene;Pearson;PLoS Med,2007
5. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations;Kapoor;Diabetes,2008
Cited by 18 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. Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review;Reviews in Endocrine and Metabolic Disorders;2022-08-23
2. Clinical profiling and screening for HNF4α and GCK gene mutations in Kashmiri patients with maturity-onset diabetes of the young (MODY);Primary Care Diabetes;2022-04
3. Mosaic <b><i>GLUD1</i></b> Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome;Hormone Research in Paediatrics;2022
4. Hypoglycemia in the Toddler and Child;Sperling Pediatric Endocrinology;2021
5. Heterozygous recurrent HNF4A variant p. Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas;American Journal of Medical Genetics Part A;2020-11-30
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