A novel frameshift mutation in <i>NR3C2</i> leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1-Reference-Cited by-同舟云学术

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1

Published:2017 Issue:1 Volume:64 Page:83-90
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kawashima Sonoyama Yuki¹,Tajima Toshihiro²,Fujimoto Masanobu¹,Hasegawa Akiko¹,Miyahara Naoki¹,Nishimura Rei¹,Hashida Yuichiro¹,Hayashi Atsushi³,Hanaki Keiichi⁴,Kanzaki Susumu¹

Affiliation:

1. Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan

2. Department of Pediatrics, Jichi Children’s Medical Center Tochigi, Shimotsuke 329-0498, Japan

3. Department of Pediatrics, Sanin Rosai Hospital, Yonago 683-8605, Japan

4. Department of Women’s and Children’s Family Nursing, Tottori University Faculty of Medicine, Yonago 683-8504, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/64/1/64_EJ16-0280/_pdf

Reference23 articles.

1. 1. Zennaro MC, Hubert EL, Fernandes-Rosa FL (2012) Aldosterone resistance: Structural and functional considerations and new perspectives. Mol Cell Endocrinol 350: 206-215.

2. 2. Shibata S, Rinehart J, Zhang J, Moeckel G, Castaneda-Bueno M, et al. (2013) Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metab 18: 660-671.

3. 3. Fuller PJ (2015) Novel interactions of the mineralocorticoid receptor. Mol Cell Endocrinol 408: 33-37.

4. 4. Pippal JB, Fuller PJ (2008) Structure-function relationships in the mineralocorticoid receptor. J Mol Endocrinol 41: 405-413.

5. 5. Riepe FG (2009) Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 72: 1-9.

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