相关实验视频

Updated: Jun 11, 2025

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
11:31

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells

Published on: April 2, 2016

14.1K

促使者删除导致基因特异性表达在一个基因未解决的原发性纤维动力障碍病例

M Makenzie Beaman1,2,3, Weining Yin4, Amanda J Smith4

  • 1Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.

American journal of medical genetics. Part A
|October 4, 2024
PubMed
概括

研究非编码基因组对于诊断遗传疾病至关重要. 补充RNA和长期读取的DNA测序确定了SPAG1中的非编码删除,解释了标准测试中遗漏的初级状腺功能障碍.

关键词:
有关RNA测序的RNA测序基因调节 基因调节 基因调节长阅读序列编排 长阅读序列编排这是一个纳米孔.没有编码的变体.主要的状动力障碍症.

更多相关视频

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.2K
Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency11:13

Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency

Published on: November 10, 2021

3.9K

相关概念视频

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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,...
194