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1型强直性肌营养不良症中胰岛素受体可变剪接的模型。

Model for alternative splicing of insulin receptor in myotonic dystrophy type 1.

作者信息

Tonevitsky E A, Trushkin E V

机构信息

Russian Research Institute of Sport and Physical Education, Moscow, Russia.

出版信息

Bull Exp Biol Med. 2009 Jun;147(6):772-6. doi: 10.1007/s10517-009-0611-2.

Abstract

Muscular dystrophy is a common multisystem disease, which results from the impairment of alternative splicing. An increase in the number of unstable CTG and CCTG repeats in untranslated regions of the DMPK and ZNF9 genes is followed by dysregulation of RNA-binding proteins. Further changes are followed by dysfunction of insulin receptors, membrane Cl- channels, and other proteins. We developed a new mathematical model for the regulation of splicing of exon 11 in the IR gene, which describes the effect of various factors on alternative splicing.

摘要

肌营养不良是一种常见的多系统疾病,由可变剪接受损引起。DMPK和ZNF9基因非翻译区中不稳定的CTG和CCTG重复序列数量增加,随后RNA结合蛋白失调。进一步的变化导致胰岛素受体、膜氯离子通道和其他蛋白质功能障碍。我们开发了一种新的数学模型,用于调节IR基因外显子11的剪接,该模型描述了各种因素对可变剪接的影响。

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