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相关概念视频

Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Base Excision Repair01:54

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One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
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Gene Therapy00:59

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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相关实验视频

Updated: Mar 11, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

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异跳转疗法

Courtney S Young1, April D Pyle2

  • 1Molecular Biology Interdepartmental Program, Center for Duchenne Muscular Dystrophy, Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095.

Cell
|November 19, 2016
PubMed
概括
此摘要是机器生成的。

埃克森迪斯51是FDA批准的第一个针对杜申肌肉衰竭 (DMD) 的疗法,该疗法向51元,以恢复符合条件的患者的阅读框架. 这种疗法使用氨酸表达作为疗效的替代标记.

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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
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Last Updated: Mar 11, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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科学领域:

  • 生物化学
  • 遗传学
  • 神经学

背景情况:

  • 杜申肌肉发育不良 (DMD) 是一种渐进的遗传性疾病.
  • 目前对DMD的治疗方法有限,需要新的治疗方法.

研究的目的:

  • 推出Exondys 51 (eteplirsen) 作为杜申肌肉衰竭的新疗法.
  • 为突出Exondys 51的作用机制和监管部门的批准.

主要方法:

  • 使用反感性寡核酸来准和跳过dystrophin 基因中的 exon 51.
  • 这种外显子跳转的目的是恢复读取框架,并使缩短的素蛋白产生.

主要成果:

  • 埃克森迪斯51获得了基于氨酸表达水平的加速FDA批准.
  • 这种疗法适用于DMD患者的突变,该突变可能导致异位51跳转,约占病例的13%.

结论:

  • 在杜申肌肉衰竭治疗中,Exondys 51 是一个显著的进步.
  • 批准强调了针对罕见疾病的基因疗法的潜力.