Massively Enlarged Polycystic Kidneys in Monozygotic Twins With TCF2/HNF-1β (Hepatocyte Nuclear Factor-1β) Heterozygous Whole-Gene Deletion
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference15 articles.
1. HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment;Barbacci;Hum Mol Genet,2004
2. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation;Coffinier;Development,1999
3. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome;Pontoglio;Cell,1996
4. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations;Bellanne-Chantelot;Ann Intern Med,2004
5. Diagnosis and management of maturity-onset diabetes of the young;Timsit;Treat Endocrinol,2005
Cited by 25 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 deletion variant in LMX1B causing nail–patella syndrome in Japanese twins;Human Genome Variation;2024-02-29
2. The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review;International Journal of Diabetes in Developing Countries;2024-02-07
3. Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease;Canadian Journal of Kidney Health and Disease;2024-01
4. Polycystic Kidney Disease: ADPKD and ARPKD;Pediatric Kidney Disease;2023
5. Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease;Kidney International Reports;2020-12
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