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Updated: May 13, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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导致结核性硬化综合体的异构TSC1和TSC2基因变异的拼接分析

Qingqing You1, Jingwei Liu2, Ran Zhang1

  • 1Department of Nephrology, Qingdao Municipal Hospital (Group), Qingdao Hospital of University of Health and Rehabilitation Sciences, Qingdao, China.

Human mutation
|April 14, 2025
PubMed
概括

这项研究表明,TSC1和TSC2基因的突变可以破坏mRNA前拼接,导致结核硬化综合体 (TSC) 中的外子跳转或内子保留. 评估拼接影响对于理解TSC病变的产生至关重要.

关键词:
这就是TSC的特点.异种变体的外型变体迷你基因检测试验 (minigene assay) 是一个非常简单的方法.拼接 拼接 拼接 拼接

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相关概念视频

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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