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

Social Determinants of Health and Clinical Outcomes in Hypertrophic Cardiomyopathy

肥厚型心肌病患者的健康社会决定因素和临床结局

Hafeez, Neha; Claggett, Brian L; Owens, Anjali T; Helms, Adam S; Saberi, Sara; Lampert, Rachel; Stendahl, John C; Ashley, Euan A; Parikh, Victoria N; Lakdawala, Neal K; Ingles, Jodie; Olivotto, Iacopo; Ho, Carolyn Y; Taylor, Matthew R; Khan, Sadiya S; Day, Sharlene M

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

Semi-synthetic fibrous fibrin composites promote 3D microvascular assembly, survival, and host integration of endothelial cells without mesenchymal cell support.

半合成纤维蛋白复合材料可促进内皮细胞的三维微血管组装、存活和宿主整合,而无需间充质细胞的支持

Midekssa Firaol S, Davidson Christopher D, Wieger Megan E, Kamen Jordan L, Hanna Kaylin M, Jayco Danica Kristen P, Hu Michael M, Friend Nicole E, Putnam Andrew J, Helms Adam S, Shikanov Ariella, Baker Brendon M

Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy

LMNA变异位点与心肌病临床结局的关系

Bhaskaran, Ashwin; Ben Yaou, Rabah; Helms, Adam S; Fayssoil, Abdallah; Richard, Pascale; Stojkovic, Tanya; Anselme, Frédéric; Labombarda, Fabien; Chikhaoui, Cathy; De Sandre-Giovannoli, Annachiara; Jeru, Isabelle; Leturcq, France; Vigouroux, Corinne; Dembele, Mohamed; Elliott, Perry; Savvatis, Konstantinos; Zeppenfeld, Katja; Bouguerra, Hassina; Charron, Philippe; Kumar, Saurabh; Bonne, Gisèle; Wahbi, Karim; Lakdawala, Neal K

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy

SCN1B相关发育性和癫痫性脑病模型中心脏兴奋性改变和心律失常

Ramos-Mondragon, Roberto; Wang, Shuyun; Edokobi, Nnamdi; Liu, Qinghua; Qiao, Xiaotan; Shih, Maya; Dang, Louis T; Tsan, Yao-Chang; Štěrbová, Katalin; Helms, Adam S; Weckhuysen, Sarah; Lopez-Santiago, Luis F; Parent, Jack M; Isom, Lori L

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

Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy

桥粒蛋白心肌病的诊断标准和疾病分期

Smith, Eric; Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandros; Syrris, Petros; Bauce, Barbara; Pilichou, Kalliopi; Murray, Brittney; Tichnell, Crystal; Basso, Cristina; Olsen, Paul Anders Sletten; Cappelletto, Chiara; Parikh, Victoria N; Chen, Liang; Peters, Stacey; Mancinelli, Antonella; Iorio, Anna Maria; Scotto, Roberta; Cadrin-Tourigny, Julia; Gilotra, Nisha A; Iseppi, Manuela; Peretto, Giovanni; Schiavone, Marco; Abela, Mark; Vargas, Daniela; Crescenzi, Cinzia; Calò, Leonardo; Ware, James; Crotti, Lia; Ciabatti, Michele; Casella, Michela; Apostu, Alexandra; Jurcut, Ruxandra; Raineri, Claudia; Angelini, Filippo; Fernández-Sellers, Carlos; Zorio, Esther; Yap, Sing-Chien; Cox, Moniek G; Salavati, Arman; Te Riele, Anneline; Wilde, Arthur; Amin, Ahmad S; van Tintelen, Peter; Saguner, Ardan M; Duru, Firat; Abrams, Dominic; Cerrone, Marina; Graziosi, Maddalena; Biagini, Elena; Gimeno, Juan Ramon; Gandjbakhch, Estelle; Lakdawala, Neal; Pieroni, Maurizio; Merlo, Marco; Sinagra, Gianfranco; Haugaa, Kristina; Arbelo, Elena; Elliott, Perry M; Taylor, Matthew; Mestroni, Luisa; Calkins, Hugh; James, Cynthia A; Helms, Adam S

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