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

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

低外显率肌节变异体增加肥厚型心肌病风险

Meisner, Joshua K; Renberg, Aaron; Smith, Eric D; Tsan, Yao-Chang; Elder, Brynn; Bullard, Abbey; Merritt, Owen L; Zheng, Sean L; Lakdawala, Neal K; Owens, Anjali T; Ryan, Thomas D; Miller, Erin M; Rossano, Joseph W; Lin, Kimberly Y; Claggett, Brian L; Ashley, Euan A; Michels, Michelle; Lampert, Rachel; Stendahl, John C; Abrams, Dominic; Semsarian, Christopher; Parikh, Victoria N; Wheeler, Matthew T; Ingles, Jodie; Olivotto, Iacopo; Day, Sharlene M; Saberi, Sara; Russell, Mark W; Previs, Michael; Ho, Carolyn Y; Ware, James S; Helms, Adam S

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

致病性桥粒蛋白变异携带者的临床特征和预后

Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Lekanne, Ronald H; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Gilotra, Nisha A; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jess; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D; Haggerty, Chris; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; Te Riele, Anneline S J M; Elliott, Perry M; Calkins, Hugh; James, Cynthia A

FICD (FIC Domain Protein Adenylyl Transferase) Deficiency Protects Mice From Hypertrophy-Induced Heart Failure and Promotes BiP (Binding Immunoglobulin Protein) -Mediated Activation of the Unfolded Protein Response and Endoplasmic Reticulum-Selective Autophagy in Cardiomyocytes.

FICD(FIC 结构域蛋白腺苷酰转移酶)缺乏可保护小鼠免受肥大引起的心力衰竭,并促进 BiP(结合免疫球蛋白蛋白)介导的未折叠蛋白反应和心肌细胞内质网选择性自噬的激活。

Lacy Shannon M, Taubitz Rebecca J, Urban Nicholas D, Turowski Samantha N, Primack Eric N, Smith Eric D, Helms Adam S, Michele Daniel E, Truttmann Matthias C

Desmoplakin Haploinsufficiency Underlies Cell-Cell Adhesion Failure in DSP Cardiomyopathy and is Rescued by Transcriptional Activation.

桥粒斑蛋白单倍体不足是 DSP 心肌病中细胞间粘附失败的根本原因,而转录激活可以挽救这一问题

Smith Eric D, Jin Karen, Ferguson Brianna, Tsan Yao-Chang, DePalma Samuel J, Meisner Joshua, Renberg Aaron, Bedi Kenneth, Friedline Sabrina, Margulies Kenneth B, Baker Brendon M, Helms Adam S

A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers

一种用于对桥粒蛋白基因变异携带者进行心律失常风险分层的新工具

Carrick, Richard T; Gasperetti, Alessio; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Dooijes, Dennis; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Gilotra, Nisha A; Cappelletto, Chiara; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Hylind, Robyn J; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Compagnucci, Paolo; Casella, Michela; Conte, Giulio; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jessica; Schulze-Bahr, Eric; Dittman, Sven; Carruth, Eric D; Young, Katelyn; Qureshi, Maria; Haggerty, Chris; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; Te Riele, Anneline S J M; Elliott, Perry; Calkins, Hugh; Wu, Katherine C; James, Cynthia A

FICD deficiency protects mice from hypertrophy-induced heart failure via BiP-mediated activation of the UPR (ER) and ER-phagy

FICD缺陷通过BiP介导的UPR(内质网)和内质网自噬激活来保护小鼠免受肥厚诱导的心力衰竭。

Lacy, Shannon M; Taubitz, Rebecca J; Urban, Nicholas D; Turowski, Samantha N; Smith, Eric D; Helms, Adam S; Michele, Daniel E; Truttmann, Matthias C

Imaging Features of Arrhythmogenic Cardiomyopathies

致心律失常性心肌病的影像学特征

Galizia, Mauricio S; Attili, Anil K; Truesdell, William R; Smith, Eric D; Helms, Adam S; Sulaiman, Abdulbaset M A; Madamanchi, Chaitanya; Agarwal, Prachi P

Episodic Myocarditis in Arrhythmogenic Cardiomyopathy: A Novel Treatment Target?

心律失常性心肌病中的发作性心肌炎:一种新的治疗靶点?

Smith, Eric D; Helms, Adam

Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

MYBPC3功能缺失突变对肥厚型心肌病的影响

Helms, Adam S; Tang, Vi T; O'Leary, Thomas S; Friedline, Sabrina; Wauchope, Mick; Arora, Akul; Wasserman, Aaron H; Smith, Eric D; Lee, Lap Man; Wen, Xiaoquan W; Shavit, Jordan A; Liu, Allen P; Previs, Michael J; Day, Sharlene M

What Could You Really Learn on Your Own?: Understanding the Epistemic Limitations of Knowledge Acquisition

你究竟能自学多少?:理解知识获取的认知局限性

Lockhart, Kristi L; Goddu, Mariel K; Smith, Eric D; Keil, Frank C