相关实验视频

Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

LMX1B 误解 - 调节元件足迹的扰动破坏了血清的前脑轴突树木化

Brent Eastman1, Nobuko Tabuchi1, Xinrui Zhang1

  • 1Department of Neurosciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, United States.

bioRxiv : the preprint server for biology
|December 23, 2024
PubMed
概括

致病性LMX1B突变通过改变血清素神经元中的基因表达来破坏大脑发育,导致轴突缺陷和空间记忆问题. 数字基因组足迹揭示了这些突变如何影响调节元素和基因网络.

关键词:
亚克森人是一个亚克森人.生物科学/神经科学 生物科学/神经科学数字基因组足迹的数字足迹在 Lmx1bb 中.误解突变是一种错误的突变.血清激素神经元的神经元

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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

Published on: August 15, 2019

9.7K
Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.2K

相关概念视频

Pleiotropy01:33

Pleiotropy

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