A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

Yoshimi Nishizaki; Makoto Hiura; Hidetoshi Sato; Yohei Ogawa; Akihiko Saitoh; Keisuke Nagasaki

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A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

机译：一个日本人家族中人类盐皮质激素受体基因的新型突变，常染色体显性遗传性假性醛固酮增多症1型

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《Clinical Pediatric Endocrinology》 |2016年第4期|共4页
作者
Yoshimi Nishizaki; Makoto Hiura; Hidetoshi Sato; Yohei Ogawa; Akihiko Saitoh; Keisuke Nagasaki;
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中图分类医学免疫学;
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1. A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1 [J] . Yuki Kawashima Sonoyama, Toshihiro Tajima, Masanobu Fujimoto, Endocrine journal . 2017,第1期

机译：NR3C2中的新型移码突变导致盐皮质激素受体的表达降低：1型肾假性醛固酮增多症家庭
2. Mineralocorticoid Receptor Mutations Differentially Affect Individual Gene Expression Profiles in Pseudohypoaldosteronism Type 1 [J] . Fábio L. Fernandes-Rosa, Edwige-Ludiwyne Hubert, Jérome Fagart, The journal of clinical endocrinology and metabolism . 2011,第3期

机译：盐皮质激素受体突变差异影响假性低醛固酮症1型个体基因表达谱。
3. Mineralocorticoid Receptor Mutations Differentially Affect Individual Gene Expression Profiles in Pseudohypoaldosteronism Type 1 [J] . Fábio L. Fernandes-Rosa, Edwige-Ludiwyne Hubert, Jérome Fagart, The journal of clinical endocrinology and metabolism . 2011,第3期

机译：盐皮质激素受体突变差异影响假性低醛固酮症1型个体基因表达谱。
4. N-terminal mutations of the human estrogen receptor gene alter expression and function of its protein product [C] . Klaus Graumann, Wenke Feng, Alois Jungbauer, Asia-Pacific biochemical engineering conference;APBIOCHEC'97 . 1997

机译：人类雌激素受体基因的N端突变会改变其蛋白质产物的表达和功能
5. Mutational analysis of the E5 protein of human papillomavirus type 16 to analyze the role of interaction with the 16-kDa subunit of the vacuolar H(+)-ATPase in inhibiting activity of this complex and altering metabolism of the epidermal growth factor receptor. [D] . Adam, Jamie L. 2000

机译：人类乳头瘤病毒16型E5蛋白的突变分析，以分析与液泡H（+）-ATPase的16-kDa亚基相互作用在抑制该复合物活性和改变表皮生长因子受体代谢中的作用。
6. A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1 [O] . Yoshimi Nishizaki, Makoto Hiura, Hidetoshi Sato, 2016

机译：一个日本人家庭中盐皮质激素受体基因的新型突变常染色体显性遗传性假性醛固酮增多症1型
7. Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene [O] . Felix G. Riepe, Nils Krone, Michel Morlot, 2004

机译：土耳其家族中的常染色体显性伪型雌激素表1型与人类矿物质激素受体基因中的一种新型无意义突变有关

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

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