相关实验视频

Updated: Jul 12, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

截断的DNM1变异突显了发育延迟和性脑病变

Tayyaba Afsar1,2, Xiaoyun Huang3, Abid Ali Shah4

  • 1Department of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

Frontiers in pediatrics
|October 30, 2023
PubMed
概括

这项研究在DNM1基因中发现了一种新型的同卵性无意义变异,导致巴基斯坦家庭严重的神经发育障碍. 这些发现证实了DNM1的存在.

关键词:
在 DNM1 的情况下.发育性和性脑病变 (DEE)同性卵性变体的变体.无意义的变体是没有意义的.新型突变 新型突变

更多相关视频

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

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

Published on: August 20, 2019

13.7K
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

9.8K

相关概念视频

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.6K