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

Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy

利用患者来源的诱导多能干细胞研究与肥厚型心肌病相关的非经典剪接变异

Joanna Jager ,Marta Ribeiro ,Marta Furtado ,Teresa Carvalho ,Petros Syrris ,Luis R Lopes ,Perry M Elliott ,Joaquim M S Cabral ,Maria Carmo-Fonseca ,Simão Teixeira da Rocha ,Sandra Martins

Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle

α激酶3在M带处的信号传导维持横纹肌的肌节完整性和蛋白质稳态。

James W McNamara ,Benjamin L Parker ,Holly K Voges ,Neda R Mehdiabadi ,Francesca Bolk ,Feroz Ahmad ,Jin D Chung ,Natalie Charitakis ,Jeffrey Molendijk ,Antonia T L Zech ,Sean Lal ,Mirana Ramialison ,Kathy Karavendzas ,Hayley L Pointer ,Petros Syrris ,Luis R Lopes ,Perry M Elliott ,Gordon S Lynch ,Richard J Mills ,James E Hudson ,Kevin I Watt ,Enzo R Porrello # ,David A Elliott #

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice

整合素 α7 突变与人类和小鼠成年期发病的心脏功能障碍有关

Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M Fontelonga, Pamela Barraza-Flores, Alan M Pittman, Jasper M Morrow, Matthew Parton, Henry Houlden, Perry M Elliott, Petros Syrris, Roderick P Maas, Mohammed M Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten,

Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease

AMPK相关心脏糖原累积症突变的鉴定、临床表现和结构机制

Dan Hu, Dong Hu, Liwen Liu, Daniel Barr, Yang Liu, Norma Balderrabano-Saucedo, Bo Wang, Feng Zhu, Yumei Xue, Shulin Wu, BaoLiang Song, Heather McManus, Katherine Murphy, Katherine Loes, Arnon Adler, Lorenzo Monserrat, Charles Antzelevitch, Michael H Gollob, Perry M Elliott, Hector Barajas-Martinez

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

罕见的网蛋白变体在致心律失常性右心室心肌病中无主要作用

Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

高通量测序揭示肥厚型心肌病的遗传复杂性

Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna; Uk10k Consortium; Vincent Plagnol, Perry M Elliott