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Updated: Aug 23, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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ヒト の 遺伝 的 な 心筋 病 症 は 双管 大動脈 弁 と 共通 の 遺伝子 基質 を 持つ

Marcos Siguero-Álvarez1,2, Alejandro Salguero-Jiménez1, Joaquim Grego-Bessa1

  • 1Intercellular Signaling in Cardiovascular Development & Disease Laboratory, Centro Nacional de Investigaciones Cardiovasculares and Ciber de Enfermedades Cardiovasculares, Instituto de Salud Carlos III, Madrid, Spain (M.S.-A., A.S.-J., J.G.-B., D.M., B.P., R.P.-S., M.S., S.C.' A.D.' B.I., J.L.d.l.P.).

Circulation
|November 3, 2022
PubMed
まとめ

MIB1 (MINDBOMB1) と他の遺伝子の遺伝的変異は,NOTCHの信号伝達経路に影響することで,左心房非収縮 (LVNC) と二動脈弁などの複雑な心臓疾患を引き起こす.

キーワード:
MIB1 についてNOTCH双動脈弁心筋病遺伝子組み換え物質左心室の非圧縮バルブ

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