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相关概念视频

RNA Splicing01:32

RNA Splicing

55.7K
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...
55.7K
Alternative RNA Splicing02:18

Alternative RNA Splicing

20.8K
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...
20.8K
Overview of Cell Death01:30

Overview of Cell Death

5.6K
Cell death is an essential process where the body gets rid of old or damaged cells. Cell proliferation and death need to be balanced, as an imbalance between the two may lead to cancer or autoimmune diseases.
Cell death was observed in the early 19th century, but there was no experimental evidence to prove it. In 1842, Carl Vogt first discovered cell death in a metamorphic toad; however, it was not termed ‘cell death.’ Scientists discovered different cell death pathways only in the...
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Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

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The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
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The Extrinsic Apoptotic Pathway01:17

The Extrinsic Apoptotic Pathway

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The extrinsic apoptotic pathway is initiated when extracellular death-inducing signals, such as specific cytokines, activate the death receptors expressed on the cell surface. The immune cells involved in this pathway are natural killer cells (NK cells) and cytotoxic T-lymphocytes. NK cells are critical in innate immune response, while cytotoxic T-lymphocytes are associated with adaptive immune response. These cells recognize specific receptors expressed on the altered cells and activate...
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Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

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相关实验视频

Updated: May 10, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

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拼接缺陷和细胞死亡原因 - - SF3B2 - - 关联面微小症.

S Rao1, K E N Watt2,3, L Maili3

  • 1Department of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA.

Journal of dental research
|April 25, 2025
PubMed
概括
此摘要是机器生成的。

SF3B2基因中的功能丧失变体通过破坏mRNA拼接并增加细胞死亡,导致面显微症 (CFM). 这会影响头骨神经细胞的发育,导致面部异常.

关键词:
软骨 软骨 软骨是一种队列研究是指队列研究.头骨脸部异常情况头骨面部生物学/遗传学发育生物学是发展生物学.基因组学就是基因组学.

更多相关视频

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

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相关实验视频

Last Updated: May 10, 2025

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08:53

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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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科学领域:

  • 遗传学 遗传学是一种遗传学.
  • 发展生物学 发展生物学
  • 分子医学是分子医学.

背景情况:

  • 面显微症 (CFM) 是一种异质性疾病,具有可变的面部低成形.
  • 在SF3B2中的功能丧失变体是CFM的新兴遗传原因.
  • 与SF3B2相关的CFM背后的精确机制尚未完全理解.

研究的目的:

  • 定义CFM中SF3B2变体的表型谱.
  • 阐明在面发育中的SF3B2功能障碍的分子机制.

主要方法:

  • 在五个新的CFM家族中确定了新的SF3B2功能丧失变异.
  • 产生了sf3b2-null突变斑马鱼来研究面发育.
  • 使用CRISPR/Cas9.9创建了SF3B2变异的人类诱导多能干细胞 (hiPSCs).
  • 在突变斑马鱼和差异化hiPSC上进行RNA测序.

主要成果:

  • 在五个新的CFM家族中发现了SF3B2变异.
  • sf3b2突变斑马鱼表现出面软骨和骨前缺陷,这是由于亡和减少神经细胞的增殖.
  • 在SF3B2变异的hiPSC中,神经区分过程中细胞死亡增加和增殖减少.
  • RNA测序揭示了sf3b2突变体中广泛存在的mRNA拼接中断,影响了mdm2.2等基因.
  • 抑制Tp53可降低亡,但不能挽救突变者的增殖或面发育.

结论:

  • 广泛的mRNA拼接中断是与SF3B2相关的CFM的一个关键机制.
  • TP53依赖的亡有助于面缺陷.
  • SF3B2变体通过拼接缺陷和细胞死亡途径影响头骨神经细胞发育.