A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1
Author:
Affiliation:
1. Department of Pediatrics, The Jikei University Kashiwa Hospital, Chiba, Japan
2. Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan
3. Jichi Children’s Medical Center Tochigi, Shimotsuke, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.jstage.jst.go.jp/article/cpe/25/3/25_2015-0021/_pdf
Reference5 articles.
1. 1. Geller, DS, Zhang, J, Zennaro, MC, Vallo-Boado, A, Rodriguez-Soriano, J, Furu, L, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006;17: 1429–36.
2. 2. Viengchareun, S, Le Menuet, D, Martinerie, L, Munier, M, Pascual-Le Tallec, L, Lombès, M. The mineralocorticoid receptor: insights into its molecular and (patho)physiological biology. Nucl Recept Signal 2007;5: e012.
3. 3. Geller, DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005;62: 513–20.
4. 4. Couette, B, Jalaguier, S, Hellal-Levy, C, Lupo, B, Fagart, J, Auzou, G, et al. Folding requirements of the ligand-binding domain of the human mineralocorticoid receptor. Mol Endocrinol 1998;12: 855–63.
5. 5. Riepe, FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72: 1–9.
Cited by 4 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. Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation;Cureus;2024-03-29
2. Development of a four-gene prognostic model for clear cell renal cell carcinoma based on transcriptome analysis;Genomics;2021-07
3. One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature;Journal of Medical Case Reports;2019-12
4. Clinical features and molecular basis of pseudohypoaldosteronism type 1;Clinical Pediatric Endocrinology;2017
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