日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling

利用 CRaTER-flox 基因编辑和收缩性分析对上下文正确的 MYH7 变体进行功能性研究

Loiben, Alexander M; Chien, Wei-Ming; McKinstry, Ashley; Ahmed, Dania; Childers, Matthew C; Regnier, Michael; Murry, Charles E; Yang, Kai-Chun

Correction: The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report

更正:MYH7 c.2770G > A (p.Glu924Lys) 突变在肥厚型心肌病 (HCM) 和限制型心肌病 (RCM) 中表现出表型异质性:病例报告

Han, Yuanyuan; Wang, Haiyan; Zhang, Hongsheng; Wang, Manman; Gan, Lijun; Meng, Fanhua

Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant

与 p.Asp461Asn MYH7 变异相关的家族性左心室致密化不全心肌病

Zhou, Yanyan; Wang, Yuqi; Yang, Xiaoqing; Mi, Jie; Liang, Fang

Ebstein anomaly, left ventricular non-compaction, and ventricular tachycardia, associated with a rare MYH7 genetic variant

与罕见的MYH7基因变异相关的Ebstein畸形、左心室致密化不全和室性心动过速

Lee, Abby C; Niaz, Talha; Dearani, Joseph A; Madhavan, Malini; Sweeney, Dayna; Connolly, Heidi M; Burchill, Luke J

Cryo-ET reveals nanoscale thick filament disorganization in MYH7 P710R hypertrophic cardiomyopathy cardiomyocytes

冷冻电镜断层扫描揭示MYH7 P710R肥厚型心肌病心肌细胞中纳米级粗丝紊乱

Zaoralová, Magda; Yoniles, Joseph; Giri, Prerna; Held, Richard G; Vander Roest, Alison; Dahlberg, Peter D; Bernstein, Daniel; Dunn, Alexander R; Engel, Leeya

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

MYH7相关肌病:法国多中心队列研究中的临床、肌病理学和基因型谱

Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Françoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Féasson, Léonard; Jacquin-Piques, Agnès; Richard, Pascale; Métay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforêt, Pascal; Acket, Blandine; Behin, Anthony; Fernández-Eulate, Gorka; Léonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocío Nur

Age-related thinning of orbicularis oculi muscle inside upper eyelid and its possible association with sunken upper eyelids

与年龄有关的上眼睑内眼轮匝肌变薄及其与上眼睑凹陷的可能关联

Takamasa Gomi, Itsuko Okuda, Ami Seino, Kaho Ohara, Yasuko Harada

Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene

罕见的肥厚型心肌病:一例伴有MYH6和MYH7基因染色体重复的早发性野生型ATTR淀粉样变性病例报告

Hamidi, Jassin; Hanel, Yvonne; Dittmann, Sven; Gerding, Wanda Maria; Nguyen, Huu Phuc; Klingel, Karin; Schulze-Bahr, Eric

Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7

HCM的临床和遗传异质性:MYH6和MYH7基因缺失的可能作用

Mancuso, Giancarlo; Marsan, Marina; Neroni, Paola; Soddu, Consolata; Lai, Francesco; Serventi, Laura; Cau, Milena; Coiana, Alessandra; Incani, Federica; Murru, Stefania; Savasta, Salvatore

Metabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model

左心室致密化不全的代谢重塑和心脏功能障碍:来自MYH7 Q315R模型的启示

Takarada, Shinya; Hata, Yukiko; Yaku, Keisuke; Izumi, Hironori; Fujii, Kazuki; Omura, Masaaki; Takasaki, Ichiro; Tsuboi, Kaori; Okabe, Mako; Miyao, Nariaki; Nakaoka, Hideyuki; Ibuki, Keijiro; Ozawa, Sayaka; Nakagawa, Takashi; Hasegawa, Hideyuki; Ichimata, Shojiro; Nishida, Naoki; Mori, Hisashi; Yanagibashi, Yuko; Takao, Keizo; Ichida, Fukiko; Hirono, Keiichi