New responsible genes for CAKUT and development of comprehensive gene mutation detection system in CAKUT

CAKUT新责任基因及CAKUT综合基因突变检测系统的开发

• 批准号: 23591192
• 负责人: IIJIMA Kazumoto
• 金额: $ 3.33万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591192/
• 关键词: 腎尿路奇形; 原因遺伝子

We utilized the genome-wide array CGH and the next generation sequencing to identify new responsible copy number variations or gene mutations. We found that deletions in the region of 1q21.1, 16q12.1q12.2, 16q12.1q13 and 8q12.1q12.3, and mutations of the UPK3A gene and EP300 gene may cause CAKUT. We also developed the comprehensive detection system of gene mutations and copy number variations responsible for CAKUT.

我们利用全基因组阵列CGH和下一代测序来鉴定新的负责拷贝数变异或基因突变。我们发现CAKUT可能与1q21.1、16q12.1q12.2、16q12.1q13和8q12.1q12.3区域的缺失以及UPK3A基因和EP300基因的突变有关。我们还开发了CAKUT基因突变和拷贝数变异的综合检测系统。

项目成果

Aberrant Notch1-dependent effects on glomerular parietal epithelial cells promotes collapsing focal segmental glomerulosclerosis with progressive podocyte loss.

• DOI: 10.1038/ki.2013.48
• 发表时间: 2013-06
• 期刊: Kidney international
• 影响因子: 19.6
• 作者: Ueno T;Kobayashi N;Nakayama M;Takashima Y;Ohse T;Pastan I;Pippin JW;Shankland SJ;Uesugi N;Matsusaka T;Nagata M
• 通讯作者: Nagata M

遺伝性腎疾患の最近の知見

遗传性肾脏疾病的最新发现

• 发表时间: 2013
• 作者: 仲谷慎也;嶋英昭;森克仁;石村栄治;稲葉雅章;飯島一誠
• 通讯作者: 飯島一誠

Rituximab for refractory nephrotic syndrome

利妥昔单抗治疗难治性肾病综合征

• 发表时间: 2011
• 作者: Satoh M;Nagasu H;Morita Y;Yamaguchi TP;Kanwar YS;Kashihara N;Iijima K
• 通讯作者: Iijima K

The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids

接受低渗或等渗静脉输液的儿童经皮肾活检后精氨酸加压素水平与低钠血症之间的关系

• DOI: 10.1007/s00467-010-1647-2
• 发表时间: 2011
• 期刊: Pediatr Nephrol
• 影响因子: 3
• 作者: Kanda K;Nozu K;Kaito H;Iijima K;Nakanishi K;Yoshikawa N;Ninchoji T;Hashimura Y;Matsuo M;Moritz ML
• 通讯作者: Moritz ML

for the Japanese Study Group of Renal Disease in Children. Two-Year Follow-Up of a Prospective Clinical Trial of Cyclosporine for Frequently Relapsing Nephrotic Syndrome in Children.

日本儿童肾病研究小组。

• DOI: 10.2215/cjn.00110112
• 发表时间: 2012
• 期刊: Clin J Am Soc Nephrol
• 作者: Ishikura K;Yoshikawa N;Nakazato H;Sasaki S;Iijima K;Nakanishi K;Matsuyama T;Ito S;Yata N;Ando T;Honda M
• 通讯作者: Honda M