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Genetics
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利用小鼠模型研究MYH7突变Gly823Glu在家族性肥厚型心肌病中的发病机制
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Genetics
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JoVE Journal
Genetics
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Please note that all translations are automatically generated.
Click here for the English version.
利用小鼠模型研究MYH7突变Gly823Glu在家族性肥厚型心肌病中的发病机制
DOI:
10.3791/63949-v
•
03:45 min
•
August 08, 2022
•
Yu Xia*
1,2
,
Jinlin Hu*
3
,
Xiang Li
,
Shuang Zheng
,
Ge Wang
2
,
Songtao Tan
2
,
Zengxiao Zou
2
,
Qiong Ling
5
,
Fenghua Yang
,
Xiaoping Fan
2
1
Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Traditional Chinese Medicine
,
the Second Affiliated Hospital of Guangzhou University of Chinese Medicine
,
2
The Second Clinical College of Guangzhou University of Chinese Medicine
,
3
Department of Cardiovascular Surgery, The First Affiliated Hospital
,
Jinan University
,
4
Guangdong Provincial Key Laboratory of Laboratory Animals
,
Guangdong Laboratory Animals Monitoring Institute
,
5
Department of Anesthesiology, Guangdong Provincial Hospital of Chinese Medicine
,
the Second Affiliated Hospital of Guangzhou University of Chinese Medicine
Chapters
00:04
Introduction
00:35
Evaluation of the Cardiac Morphology and Function
01:54
Results: Validating the Pathogenicity of G823E Mutation Using the C57BL/6N Murine Model
03:17
Conclusion
Summary
Automatic Translation
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Automatic Translation
基于我们临床工作中发现的家族性遗传性心肌病家族,我们通过CRISPR / Cas9介导的基因组工程在小鼠MYH7位点创建了一个具有点突变(G823E)的C57BL / 6N小鼠模型来验证该突变。
Tags
Familial Hypertrophic Cardiomyopathy
MYH7 Mutation
Gly823Glu
Mouse Model
Ultrasound
Echocardiography
Cardiac Hypertrophy
Sanger Sequencing
Genetic Etiology
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