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

Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease

L271H CACNA1D (Cav1.3) iPSC 神经发育疾病模型中异常的钙信号传导和神经元活动

Tisch, Marcel; Geisler, Stefanie M; Gabassi, Elisa; Schlemmer, Quirin; Lechner, Miriam; Ulz, Julia-Anna; Suarez-Cubero, Marta; De Gaetano, Laura; Spathopoulou, Angeliki; Striessnig, Jörg; Ortner, Nadine J; Günther, Katharina; Tuluc, Petronel; Edenhofer, Frank

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

MAGEL2 的截短变体与 Schaaf-Yang 综合征和 Prader-Willi 综合征的病因有关。

Heimdörfer, David; Vorleuter, Alexander; Eschlböck, Alexander; Spathopoulou, Angeliki; Suarez-Cubero, Marta; Farhan, Hesso; Reiterer, Veronika; Spanjaard, Melanie; Schaaf, Christian P; Huber, Lukas A; Kremser, Leopold; Sarg, Bettina; Edenhofer, Frank; Geley, Stephan; de Araujo, Mariana E G; Huettenhofer, Alexander

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

MAGEL2 的截短变体与 Schaaf-Yang 综合征和 Prader-Willi 综合征的病因有关

David Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, Angeliki Spathopoulou, Marta Suarez-Cubero, Hesso Farhan, Veronika Reiterer, Melanie Spanjaard, Christian P Schaaf, Lukas A Huber, Leopold Kremser, Bettina Sarg, Frank Edenhofer, Stephan Geley, Mariana E G de Araujo, Alexander Huettenhofer

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene

从携带电压门控钙通道亚基 Cav1.3 编码 CACNA1D 基因杂合 L271H 突变的患者的 PBMCs 生成人类诱导性多能干细胞系 (IBKMOLi002-A)

Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco, Johannes Zschocke, Katharina Günther, Frank Edenhofer

High Glycolytic Activity Enhances Stem Cell Reprogramming of Fahd1-KO Mouse Embryonic Fibroblasts

高糖酵解活性增强Fahd1-KO小鼠胚胎成纤维细胞的干细胞重编程

Ahmad Salti ,Solmaz Etemad ,Marta Suarez Cubero ,Eva Albertini ,Beata Kovacs-Szalka ,Max Holzknecht ,Elia Cappuccio ,Maria Cavinato ,Frank Edenhofer ,Pidder Jansen Dürr