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

Myozap Deficiency Promotes Adverse Cardiac Remodeling via Differential Regulation of Mitogen-activated Protein Kinase/Serum-response Factor and β-Catenin/GSK-3β Protein Signaling.

Myozap 缺乏通过对丝裂原活化蛋白激酶/血清反应因子和β-连环蛋白/GSK-3β蛋白信号传导的差异性调节促进不良心脏重塑

Rangrez Ashraf Yusuf, Eden Matthias, Poyanmehr Reza, Kuhn Christian, Stiebeling Katharina, Dierck Franziska, Bernt Alexander, Lüllmann-Rauch Renate, Weiler Hartmut, Kirchof Paulus, Frank Derk, Frey Norbert

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

对三名无关受试者进行基于芯片的基因发现表明,SCARB2/LIMP-2 缺陷会导致肌阵挛性癫痫和肾小球硬化

Berkovic Samuel F, Dibbens Leanne M, Oshlack Alicia, Silver Jeremy D, Katerelos Marina, Vears Danya F, Lüllmann-Rauch Renate, Blanz Judith, Zhang Ke Wei, Stankovich Jim, Kalnins Renate M, Dowling John P, Andermann Eva, Andermann Frederick, Faldini Enrico, D'Hooge Rudi, Vadlamudi Lata, Macdonell Richard A, Hodgson Bree L, Bayly Marta A, Savige Judy, Mulley John C, Smyth Gordon K, Power David A, Saftig Paul, Bahlo Melanie