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

Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy

KLHL24双等位基因功能缺失变异：早发性心律失常和肥厚型心肌病的新证据

期刊:JACC: Case Reports
影响因子:
doi:10.1016/j.jaccas.2026.107473
Adak, Niharika; Vermeer, Mathilde C S C
心血管
心肌病
发表日期：2026
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Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants

了解桥粒斑蛋白剪接位点变异的基因型-表型相关性

期刊:Experimental Dermatology
影响因子:3.1
doi:10.1111/exd.70099
Bolling, Maria C; Vermeer, Mathilde C S C
发表日期：2025
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Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues

利用动态工程化心脏组织评估阿霉素诱导心脏毒性中的衰老及其预防

期刊:Jacc: Cardiooncology
影响因子:12.8
doi:10.1016/j.jaccao.2023.03.012
Linders, Annet N; Dias, Itamar B; Ovchinnikova, Ekaterina S; Vermeer, Mathilde C S C; Hoes, Martijn F; Markousis Mavrogenis, George; Deiman, Frederik E; Arevalo Gomez, Karla F; Bliley, Jacqueline M; Nehme, Jamil; Vink, Aryan; Gietema, Jourik; de Boer, Rudolf A; Westenbrink, Daan; Sillje, Herman H W; Hilfiker-Kleiner, Denise; van Laake, Linda W; Feinberg, Adam W; Demaria, Marco; Bomer, Nils; van der Meer, Peter
Senescence
毒理研究
衰老
发表日期：2023
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Clinical Outcome in KLHL24 Cardiomyopathy

KLHL24心肌病临床结局

期刊:Circulation-Genomic and Precision Medicine
影响因子:5.5
doi:10.1161/CIRCGEN.122.003998
Vermeer, Mathilde C S C; Arevalo Gomez, Karla F; Hoes, Martijn F; Tromp, Jasper; Verdonschot, Job A J; Henkens, Michiel T H M; Silljé, Herman H W; Bolling, Maria C; van der Meer, Peter
心血管
心肌病
发表日期：2023
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A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

KLHL24 中的翻译重新起始变异体也可通过中间丝降解引起单纯性大疱性表皮松解症和扩张型心肌病。

期刊:British Journal of Dermatology
影响因子:9.6
doi:10.1111/bjd.21832
Vermeer, Mathilde C S C; Al-Shinnag, Mohammad; Silljé, Herman H W; Gaytan, Antonio Esquivel; Murrell, Dedee F; McGaughran, Julie; Melbourne, Wei; Cowan, Timothy; van den Akker, Peter C; van Spaendonck-Zwarts, Karin Y; van der Meer, Peter; Bolling, Maria C
心血管
心肌病
发表日期：2022
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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity

对同一家族中两种同时或分别分离的DSP变异体进行功能研究，支持了剂量依赖性疾病严重程度的理论。

期刊:Experimental Dermatology
影响因子:3.1
doi:10.1111/exd.14571
Vermeer, Mathilde C S C; Andrei, Daniela; Kramer, Duco; Nijenhuis, Albertine M; Hoedemaekers, Yvonne M; Westers, Helga; Jongbloed, Jan D H; Pas, Hendri H; van den Berg, Maarten P; Silljé, Herman H W; van der Meer, Peter; Bolling, Maria C
发表日期：2022
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