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

Transcription Factors02:16

Transcription Factors

75.3K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
75.3K
General Transcription Factors01:30

General Transcription Factors

5.1K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
5.1K
Master Transcription Regulators02:23

Master Transcription Regulators

6.7K
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
6.7K
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

7.2K
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
7.2K
Co-activators and Co-repressors02:04

Co-activators and Co-repressors

7.1K
Gene transcription is regulated by the synergistic action of several proteins that form a complex at a gene regulatory site. This is observed in eukaryotes, where the regulation of gene expression is a complex process. Regulatory proteins in eukaryotes can broadly be classified into two types – regulators that bind directly to specific DNA sequences and co-regulators that associate with regulatory proteins but cannot directly bind to the DNA. These co-regulators are further divided into...
7.1K
Cooperative Binding of Transcription Regulators02:13

Cooperative Binding of Transcription Regulators

6.2K
Transcriptional regulators bind to specific cis-regulatory sequences in the DNA to regulate gene transcription. These cis-regulatory sequences are very short, usually less than ten nucleotide pairs in length. The short length means that there is a high probability of the exact same sequence randomly occurring throughout the genome.  Since regulators can also bind to groups of similar sequences, this further increases the chances of random binding. Transcriptional regulators form...
6.2K

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

Cystic fibrosis therapy: from symptoms to the cause of the disease.

Vavilovskii zhurnal genetiki i selektsii·2025
Same author

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Frontiers in genetics·2024
Same author

Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.

Klinicheskaia laboratornaia diagnostika·2022
Same author

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Stem cell research·2021
Same author

Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease.

Stem cell research·2020
Same author

Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability.

Stem cell research·2019

相关实验视频

Updated: May 8, 2025

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

8.1K

转录因子TCF4:结构,功能和相关疾病

R R Savchenko1, N A Skryabin1

  • 1Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

Vavilovskii zhurnal genetiki i selektsii
|December 26, 2024
PubMed
概括
此摘要是机器生成的。

了解TCF4基因对于神经系统发育和治疗皮特-霍普金斯综合征等遗传疾病至关重要. 研究探讨了TCF4的功能,它在疾病中的作用以及潜在的治疗策略.

关键词:
皮特·霍普金斯综合征 皮特·霍普金斯综合征皮特·霍普金斯综合征治疗疗法TCF4CF4是什么意思自闭症谱系障碍 自闭症谱系障碍这就是为什么BHLHH精神障碍 精神障碍 精神障碍

更多相关视频

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

2.7K

相关实验视频

Last Updated: May 8, 2025

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

8.1K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.3K
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

2.7K

科学领域:

  • 遗传学 是一个遗传学.
  • 分子生物学分子生物学
  • 神经科学是一个神经科学.

背景情况:

  • 对人类基因和蛋白质功能的有限理解阻碍了医学进步.
  • TCF4基因对神经系统的发育和功能至关重要.
  • TCF4中的致病变体导致皮特-霍普金斯综合征,并与精神疾病有关.

研究的目的:

  • 审查TCF4转录因子的结构,功能和调控机制.
  • 探索TCF4在皮特-霍普金斯综合征和其他社会重要疾病中的作用.
  • 讨论TCF4相关疾病的潜在治疗策略.

主要方法:

  • 对TCF4基因和蛋白质功能的文献综述.
  • 在皮特-霍普金斯综合征模型中分析病原遗传机制.
  • 检查TCF4目标基因和调节通路.

主要成果:

  • TCF4编码了一种对神经系统发育至关重要的转录因子.
  • TCF4变异与皮特-霍普金斯综合征和精神疾病有关.
  • 关于TCF4上调和其标基因的知识有限.

结论:

  • 对TCF4复杂的功能和监管网络的进一步研究至关重要.
  • 了解TCF4病原遗传机制可以为相关疾病的治疗开发提供信息.
  • TCF4剂量补偿和基因调制是潜在的治疗途径.