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

Pleiotropy01:33

Pleiotropy

39.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.7K

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

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Self-perceived burden and mental health outcomes in adults with osteogenesis imperfecta.

Journal of health psychology·2026
Same author

Sociodemographic and clinical predictors of resilience in individuals with osteogenesis imperfecta.

Disability and health journal·2026
Same author

Comparative analysis of clearing methods for 3D imaging of the vasculature in mineralized mouse tissues.

iScience·2026
Same author

Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.

Research square·2026
Same author

Mechanical characterization of <i>Col1a1</i> <sup>+/-</sup> osteogenesis imperfecta bone revealed altered mechanical stiffness heterogeneity across scales.

Cell biomaterials·2026

相关实验视频

Updated: Jun 5, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.6K

通过精确的动物模型发现AXIN2相关疾病的表型扩展.

Nathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese

    medRxiv : the preprint server for health sciences
    |December 16, 2024
    PubMed
    概括

    新的AXIN2基因变异会导致发展障碍,而不仅仅是寡牙-结肠直肠癌综合征 (ODCRCS). 这些致病变体扩展已知的表型,影响发育,并对模型生物中的WNT信号产生上下文依赖的影响.

    更多相关视频

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    9.7K
    Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
    11:05

    Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

    Published on: October 20, 2023

    4.4K

    相关实验视频

    Last Updated: Jun 5, 2025

    In Vivo Modeling of the Morbid Human Genome using Danio rerio
    12:31

    In Vivo Modeling of the Morbid Human Genome using Danio rerio

    Published on: August 24, 2013

    20.6K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    9.7K
    Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
    11:05

    Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

    Published on: October 20, 2023

    4.4K

    科学领域:

    • 遗传学和发育生物学
    • 分子生物学分子生物学
    • 人类疾病遗传学 人类疾病遗传学

    背景情况:

    • 在AXIN2基因中异构的致病变体与寡牙-结肠直肠癌综合征 (ODCRCS) 有关.
    • ODCRCS的特点是缺少牙,结肠直肠癌,有时还有稀疏的头发/眉毛.

    研究的目的:

    • 识别和描述新的AXIN2变异及其相关的表型.
    • 研究这些变异对AXIN2蛋白和WNT信号传导的功能影响.

    主要方法:

    • 鉴定了四个具有新异性AXIN2变异的个体.
    • 利用结构建模来预测对坦基拉酶结合的变异效应.
    • 在小鼠胚胎和Drosophila模型中采用了原始编辑来评估体内和细胞特异性功能.

    主要成果:

    • 确定了两种新的AXIN2变体 (c.196G>A,p.(Glu66Lys) 和c.199G>A,p.(Gly67Arg),扩展了疾病的表型.
    • 受影响的个体除了ODCRCS特征外,还出现了全球发育迟缓,小头,肢体,眼科和脏异常.
    • 鼠标模型显示了骨异常的围产死亡率,而Drosophila模型显示了取决于背景的功能获取和丧失活动.

    结论:

    • 坦基拉酶结合域中的特定AXIN2变异具有致病性,导致更广泛的先天性异常.
    • 变异性致病性与破坏的坦基拉酶结合有关,影响了AXIN2稳定性和WNT信号传递.
    • 该研究突出了AXIN2变体的上下文依赖功能影响,并提出了模拟策略,以解决不确定意义的变体.