• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Cilia >Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
【24h】

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

机译：将Bbs10完全敲除表型与特定的肾脏上皮敲除表型进行比较，突出了小鼠肾脏缺陷与全身失活之间的联系

获取原文
       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Background Bardet–Biedl Syndrome (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, obesity and renal dysfunction. To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide. It codes for the BBS10 protein which forms part of a chaperone complex localized at the basal body of the primary cilium. Renal dysfunction in BBS patients is one of the major causes of morbidity in human patients and is associated initially with urinary concentration defects related to water reabsorption impairment in renal epithelial cells. The aim of this study was to study and compare the impact of a total Bbs10 inactivation (Bbs10?/? ) with that of a specific renal epithelial cells inactivation (Bbs10? fl/fl ; Cdh16-Cre+/? ). Results We generated the Bbs10?/?and Bbs10? fl/fl ; Cadh16-Cre+/? mouse model and characterized them. Bbs10?/? mice developed obesity, retinal degeneration, structural defects in the glomeruli, polyuria associated with high circulating arginine vasopressin (AVP) concentrations, and vacuolated, yet ciliated, renal epithelial cells. On the other hand, the Bbs10? fl/fl ; Cadh16-Cre+/? mice displayed no detectable impairment. Conclusions These data highlight the importance of a systemic Bbs10 inactivation to trigger averted renal dysfunction whereas a targeted absence of BBS10 in the renal epithelium is seemingly non-deleterious.
机译：背景Bardet–Biedl综合征（BBS）是遗传性异型睫状体病，具有临床主要特征，包括视网膜变性，肥胖和肾功能不全。迄今为止，已经鉴定出20个BBS基因，其中BBS10是主要的BBS基因，被发现在全世界所有BBS患者中几乎有20％发生了突变。它编码BBS10蛋白，该蛋白形成伴侣蛋白复合物的一部分，该蛋白伴侣位于初级纤毛的基体中。 BBS患者的肾功能不全是人类患者发病的主要原因之一，最初与与肾上皮细胞的水分吸收障碍有关的尿液浓度缺陷有关。这项研究的目的是研究和比较总的Bbs10失活（Bbs10 ？ / ？）的影响和特定肾脏的影响。上皮细胞失活（Bbs10？ fl / fl ; Cdh16-Cre + / ？）。结果我们生成了Bbs10 ？ / ？和Bbs10？ fl / fl ; Cadh16-Cre + / ？小鼠模型并对其进行了表征。 Bbs10 ？ / ？小鼠出现肥胖，视网膜变性，肾小球结构缺陷，多尿与循环精氨酸升压素（AVP）高浓度相关，并空化但有纤毛的肾上皮细胞。另一方面，Bbs10？ fl / fl ; Cadh16-Cre + / ？小鼠未显示可检测的损伤。结论这些数据突显了全身性Bbs10失活对引发转移性肾功能不全的重要性，而在肾上皮中有针对性地缺乏BBS10似乎无害。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号