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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

293
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
293
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

195
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
195
Mutations01:39

Mutations

83.8K
Overview
83.8K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

10.7K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
10.7K
Genome Copying Errors02:46

Genome Copying Errors

4.3K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.3K
Tumor Progression02:07

Tumor Progression

6.4K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.4K

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

Large language models enable prognostic stratification of cancer patients using real-world clinical notes.

PLOS digital health·2026
Same author

Mutation enrichment in targeted panels flags immunotherapy-responsive POLE-driven hypermutated microsatellite-stable colorectal cancers.

NPJ precision oncology·2026
Same author

Spray-Pyrolyzed Hollow and Yolk-Shell CeO<sub>2</sub> Nanocarriers with Tunable Structure for Redox-Responsive Delivery and Gene Rescue Applications.

ACS applied materials & interfaces·2026
Same author

Real-world data on the clinical impact of molecular tumor boards in high- and low-grade serous ovarian cancer.

Frontiers in oncology·2026
Same author

Elevated target expression by dual PD-L1 and 4-1BB engagement is associated with <sup>89</sup>Zr-PD-L1x4-1BB bispecific Mabcalin tumor uptake.

Theranostics·2026
Same author

Implementing whole genome and transcriptome sequencing for cancer patients in routine healthcare: a comprehensive guide to costing.

British journal of cancer·2026

相关实验视频

Updated: Jul 24, 2025

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice
08:55

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

7.8K

无意义的突变加快了肺部疾病,并降低了囊性纤维化儿童的生存率.

Annalisa Orenti1, Iwona Pranke2, Caroline Faucon3

  • 1Department of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Biometry and Epidemiology "G. A. Maccacaro", University of Milan, Milan, Italy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
|July 8, 2023
PubMed
概括

患有囊性纤维化 (pwCF) 两种无意义突变 (PTC/PTC) 的患者经历了更快的肺功能下降和更高的死亡率. 这项研究强调了PTC/PTC突变对CF进展和生存的严重影响.

关键词:
囊性纤维化 (MeSH:DO008550) 的情况囊性纤维化通过膜导电调节器 (MeSH:DO19005)过早终止的编码子 (MeSH:DO:18389)

更多相关视频

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD
09:47

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD

Published on: September 13, 2018

16.4K
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

10.7K

相关实验视频

Last Updated: Jul 24, 2025

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice
08:55

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

7.8K
Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD
09:47

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD

Published on: September 13, 2018

16.4K
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

10.7K

科学领域:

  • 肺部病理学 肺部病理学
  • 遗传学 是一个遗传学.
  • 医学研究 医学研究

背景情况:

  • 关于携带两个无意义突变 (PTC/PTC) 的囊性纤维化 (CF) 个体的临床状态的数据有限.
  • 了解与不同CFTR突变类型相关的疾病严重程度对于患者管理和治疗开发至关重要.

研究的目的:

  • 为了比较患有两个无意义突变 (PTC/PTC) 的囊性纤维化 (pwCF) 患者的疾病严重程度,与患有复合异合体 (F508del/PTC) 和同合体 (F508del/F508del) F508del突变的人进行比较.
  • 评估具有PTC/PTC突变的pwCF的鼻上皮细胞中的CFTRmRNA和蛋白质活性.

主要方法:

  • 来自欧洲CF协会患者登记处的高收入和中等收入国家的pwCF临床数据的回顾性分析.
  • 对不同CFTR突变组的疾病进展指标 (例如FEV1下降,死亡率,Pseudomonas aeruginosa感染率) 的比较.
  • 评估CFTR mRNA和蛋白质活性在22个pwCF具有PTC/PTC突变的初级人类鼻上皮细胞 (HNE) 中.

主要成果:

  • 具有PTC/PTC和F508del/PTC突变的pwCF显示,与F508del/F508del相比,从童年到成年期的1秒内强迫呼气量 (FEV1) 从童年到成年期的下降明显更快.
  • 儿科pwCF中死亡率明显高,其中有一个或两个PTC等位基因与F508del同卵性对相比.
  • 在PTC/PTC个体中,Pseudomonas aeruginosa感染更频繁,他们的鼻腔细胞中的CFTR活性是最小的 (0-3%野生类型).

结论:

  • 无意义的突变,特别是PTC/PTC基因型的突变,在患有囊性纤维化的儿童和青少年中显著降低了生存率并加速了呼吸系统疾病的进展.
  • 这些发现强调了CF中PTC/PTC突变的严重临床影响.
  • 针对PTC/PTC突变的向治疗是有必要的,以改善结果.