Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Gene Therapy00:59

Gene Therapy

25.6K
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...
25.6K
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K
RNA Splicing01:32

RNA Splicing

56.5K
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...
56.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.4K
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...
21.4K
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.0K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
6.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026
Same author

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Movement disorders clinical practice·2026
Same author

GABA signaling activation drives glioblastoma progression in female mice through myeloid-derived suppressor cells.

Nature cancer·2026
Same author

Informing quarantine policy for measles control in primary school and daycare settings: insights from a simulation study, Flanders, Belgium.

Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin·2026
Same author

Reply: Genetically proxied GLP1R expression does not predict exenatide response in the Exenatide-PD3 trial.

Brain : a journal of neurology·2026
Same author

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

American journal of human genetics·2026

相关实验视频

Updated: Jul 23, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

13.5K

一个个别化的拼接切换寡核酸治疗框架

Jinkuk Kim1,2,3,4, Sijae Woo5, Claudio M de Gusmao6,7

  • 1Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.

Nature
|July 12, 2023
PubMed
概括

全基因组测序确定了具有遗传性疾病的个体,比如 - 角质切换,易受拼接切换抗意义寡核酸 (ASO) 的影响. 这些ASO成功地纠正了患者细胞的拼接缺陷,并在临床试验中显示出安全性.

更多相关视频

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

9.0K
A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells
10:07

A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells

Published on: August 25, 2017

7.9K

相关实验视频

Last Updated: Jul 23, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

13.5K
Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

9.0K
A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells
10:07

A Standard Methodology to Examine On-site Mutagenicity As a Function of Point Mutation Repair Catalyzed by CRISPR/Cas9 and SsODN in Human Cells

Published on: August 25, 2017

7.9K

科学领域:

  • 遗传学
  • 分子生物学
  • 治疗药物

背景情况:

  • 基因疾病对有针对性的治疗具有挑战性.
  • 识别适合用于拼接切换抗无意义寡核酸 (ASO) 治疗的个体需要先进的基因分析.
  • 这是一种严重的,危及生命的衰退性遗传疾病.

研究的目的:

  • 系统地识别具有遗传性疾病的个体,特别是形 - 形切换ASO治疗的候选人.
  • 开发和验证ASO可接受性的预测模型.
  • 在临床前和临床环境中证明ASO的有效性和安全性.

主要方法:

  • 在235名患有心肌衰竭的个体中进行全基因组测序.
  • 对ASO拼接调制可接受性的预测分类学的开发.
  • 在患者衍生纤维细胞中设计和测试拼接切换ASOs.
  • 在儿童患者中进行ASO的试点临床研究.

主要成果:

  • 对所有参与者进行近乎完整的分子诊断.
  • 分别发现9%和6%的个体具有"可能"或"可能"适应ASO治疗的变体.
  • 开发了可纠正拼接缺陷和恢复患者细胞中的ATM信号的ASO.
  • 在为期三年的试点临床研究中证明了ASO的耐受性和安全性.

结论:

  • 整基因组测序与预测模型相结合,可以识别用于ASO治疗的患者.
  • 其他方法往往忽略的深层内部变体可以被ASOs所准.
  • 这项研究为潜在的鉴定受益于基于ASO的遗传疾病治疗的患者提供了框架.