...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Biochemical and Biophysical Research Communications >Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
【24h】

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

机译：导致KID综合征的连接蛋白26（GJB2）突变与钙门控失调导致的细胞死亡有关。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. The Cx26 protein is a component of gap junction channels in epithelia, including the cochlea, which coordinates the exchange of molecules and ions. Here, we demonstrate that different Cx26 mutants (Cx26D50N and Cx26G11E) cause cell death in vitro by the alteration of intra-cellular calcium concentrations. These results help to explain the pathogenesis of both the hearing and skin phenotypes, since calcium is also a potent regulator of the epidermal differentiation process.
机译：由于GJB2（连接蛋白26，Cx26）突变，常染色体显性遗传KID综合征（MIM 148210）是一种外皮发育异常，伴有鳞状红斑性皮肤病变，角膜炎和严重的双侧感觉神经性耳聋。 Cx26蛋白是上皮细胞（包括耳蜗）中间隙连接通道的组成部分，可协调分子和离子的交换。在这里，我们证明了不同的Cx26突变体（Cx26D50N和Cx26G11E）通过改变细胞内钙的浓度在体外引起细胞死亡。这些结果有助于解释听力和皮肤表型的发病机理，因为钙也是表皮分化过程的有效调节剂。

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