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

Filamin C dimerisation is regulated by HSPB7.

丝状蛋白C二聚化受HSPB7调控

Wang Zihao, Cao Guodong, Collier Miranda P, Qiu Xingyu, Broadway-Stringer Sophie, Šaman Dominik, Ng Jediael Z Y, Sen Navoneel, Azad Amar J, Hooper Charlotte, Zimmermann Johannes, McDonough Michael A, Brem Jürgen, Rabe Patrick, Song Haigang, Alderson T Reid, Schofield Christopher J, Bolla Jani R, Djinovic-Carugo Kristina, Fürst Dieter O, Warscheid Bettina, Degiacomi Matteo T, Allison Timothy M, Hochberg Georg K A, Robinson Carol V, Gehmlich Katja, Benesch Justin L P

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

mavacamten 可部分挽救导致常染色体显性肥厚型心肌病的 ALPK3 截短变异体。

Leinhos, Lisa; Robinson, Paul; Poloni, Giulia; Broadway-Stringer, Sophie; Beglov, Julia; Lokman, Adam B; Douglas, Gillian; Nuthay, Sajjad; Fonseka, Oveena; Schmid, Manuel; Singer, Evie; Hooper, Charlotte; Thomson, Kate; Bagnall, Richard D; Ingles, Jodie; Semsarian, Christopher; Ormondroyd, Elizabeth; Toepfer, Christopher N; Davies, Benjamin; Redwood, Charles; Watkins, Hugh; Gehmlich, Katja

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant.

在 HCM 相关 ACTN2 变异小鼠模型中,心房电活动改变,但心脏结构和收缩功能完整

Noureddine Maya, Broadway-Stringer Sophie, O'Shea Christopher, Jones Bethany A I, Hayes Abbie, Denning Chris, Loughna Siobhan, Mohammed Fiyaz, Pavlovic Davor, Gehmlich Katja

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

雌性 Alms1 缺陷小鼠出现成人型而非婴儿型 Alström 综合征心肌病的心脏超声特征。

McKay, Eleanor J; Luijten, Ineke; Broadway-Stringer, Sophie; Thomson, Adrian; Weng, Xiong; Gehmlich, Katya; Gray, Gillian A; Semple, Robert K

Familial atrial fibrillation mutation M1875T-SCN5A increases early sodium current and dampens the effect of flecainide

家族性房颤突变M1875T-SCN5A可增加早期钠电流并减弱氟卡尼的作用。

O'Reilly, Molly; Sommerfeld, Laura C; O'Shea, C; Broadway-Stringer, S; Andaleeb, S; Reyat, J S; Kabir, S N; Stastny, D; Malinova, A; Delbue, D; Fortmueller, L; Gehmlich, K; Pavlovic, D; Skryabin, B V; Holmes, A P; Kirchhof, P; Fabritz, L

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

对ACTN2中导致心肌病的基因变异作用的深入研究

Broadway-Stringer, Sophie; Jiang, He; Wadmore, Kirsty; Hooper, Charlotte; Douglas, Gillian; Steeples, Violetta; Azad, Amar J; Singer, Evie; Reyat, Jasmeet S; Galatik, Frantisek; Ehler, Elisabeth; Bennett, Pauline; Kalisch-Smith, Jacinta I; Sparrow, Duncan B; Davies, Benjamin; Djinovic-Carugo, Kristina; Gautel, Mathias; Watkins, Hugh; Gehmlich, Katja