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マウスモデルを用いた家族性肥大型心筋症におけるMYH7変異Gly823Gluの病態解明
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August 08, 2022
DOI:
1Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Traditional Chinese Medicine,the Second Affiliated Hospital of Guangzhou University of Chinese Medicine, 2The Second Clinical College of Guangzhou University of Chinese Medicine, 3Department of Cardiovascular Surgery, The First Affiliated Hospital,Jinan University, 4Guangdong Provincial Key Laboratory of Laboratory Animals,Guangdong Laboratory Animals Monitoring Institute, 5Department of Anesthesiology, Guangdong Provincial Hospital of Chinese Medicine,the Second Affiliated Hospital of Guangzhou University of Chinese Medicine
Summary
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我々の臨床研究で発見された家族性遺伝性心筋症ファミリーに基づいて、CRISPR/Cas9を介したゲノム工学により、マウスMYH7遺伝子座に点突然変異(G823E)を有するC57BL/6Nマウスモデルを作成し、この変異を検証しました。
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Xia, Y., Hu, J., Li, X., Zheng, S., Wang, G., Tan, S., Zou, Z., Ling, Q., Yang, F., Fan, X. Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model. J. Vis. Exp. (186), e63949, doi:10.3791/63949 (2022).
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