Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

Udagawa Tomohiro; Jo Tohaku; Yanagihara Takeshi; Shimizu Akira; Mitsui Jun; Tsuji Shoji; Morishita Shinichi; Onai Reiko; Miura Kenichiro; Kanda Shoichiro; Kajiho Yuko; Tsurumi Haruko; Oka Akira; Hattori Motoshi; Harita Yutaka

首页> 外文期刊>Pediatric nephrology: journal of the International Pediatric Nephrology Association >Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

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Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

机译：CRB2在足细胞中的改变表达扩增了类固醇耐药综合征中CRB2突变的变异

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Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disorder for which more than 25 single-gene hereditary causes have been identified.

机译：类固醇肾病综合征（SRNS）是一种遗传异质疾病，其已经确定了超过25个单基因遗传原因。

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来源
《Pediatric nephrology: journal of the International Pediatric Nephrology Association》 |2017年第5期|共9页
作者
Udagawa Tomohiro; Jo Tohaku; Yanagihara Takeshi; Shimizu Akira; Mitsui Jun; Tsuji Shoji; Morishita Shinichi; Onai Reiko; Miura Kenichiro; Kanda Shoichiro; Kajiho Yuko; Tsurumi Haruko; Oka Akira; Hattori Motoshi; Harita Yutaka;
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作者单位

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Nippon Med Sch Dept Pediat Tokyo Japan;

Nippon Med Sch Dept Pediat Tokyo Japan;

Nippon Med Sch Dept Analyt Human Pathol Bunkyo Ku Tokyo Japan;

Univ Tokyo Grad Sch Med Dept Neurol Bunkyo Ku Tokyo Japan;

Univ Tokyo Grad Sch Med Dept Neurol Bunkyo Ku Tokyo Japan;

Univ Tokyo Grad Sch Frontier Sci Dept Computat Biol &

Med Sci Chiba Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

Tokyo Womens Med Univ Dept Pediat Nephrol Sinjuku Ku Tokyo Japan;

Univ Tokyo Grad Sch Med Dept Pediat Bunkyo Ku 7-3-1 Hongo Tokyo 1138655 Japan;

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原文格式 PDF
正文语种 eng
中图分类儿科学;
关键词
Steroid-resistant nephrotic syndrome; Crb2; Podocyte; Slit diaphragm;

机译：类固醇性肾病综合征;CRB2;podocyte;狭缝膜片;

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专利

1. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome [J] . Udagawa Tomohiro, Jo Tohaku, Yanagihara Takeshi, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2017,第5期

机译：CRB2在足细胞中的改变表达扩增了类固醇耐药综合征中CRB2突变的变异
2. Expanding the phenotype of CRB2 mutations-A new ciliopathy syndrome? [J] . Jaron R., Rosenfeld N., Zahdeh F., Clinical Genetics: An International Journal of Genetics in Medicine . 2016,第6期

机译：扩大CRB2突变表型-一种新的睫状体综合症吗？
3. Induction of podocyte VEGF164 overexpression at different stages of development causes congenital nephrosis or steroid-resistant nephrotic syndrome. [J] . Veron D, Reidy K, Marlier A, American Journal of Pathology: Official Publication of the American Association of Pathologists . 2010,第5期

机译：在发育的不同阶段诱导足细胞VEGF164过度表达会引起先天性肾病或类固醇抵抗性肾病综合征。
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. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome [O] . Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, 2015

机译：CRB2缺陷导致类固醇抵抗性肾病综合征
7. Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome [O] . Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, 2015

机译：CRB2缺陷导致类固醇抵抗性肾病综合征

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

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