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

NIMA-related kinase 9 regulates the phosphorylation of the essential myosin light chain in the heart

NIMA相关激酶9调节心脏中必需肌球蛋白轻链的磷酸化

Marion Müller,Rose Eghbalian,Jes-Niels Boeckel,Karen S Frese,Jan Haas,Elham Kayvanpour,Farbod Sedaghat-Hamedani,Maximilian K Lackner,Oguz F Tugrul,Thomas Ruppert,Rewati Tappu,Diana Martins Bordalo,Jasmin M Kneuer,Annika Piekarek,Sabine Herch,Sarah Schudy,Andreas Keller,Nadja Grammes,Cornelius Bischof,Anna Klinke,Margarida Cardoso-Moreira,Henrik Kaessmann,Hugo A Katus,Norbert Frey,Lars M Steinmetz,Benjamin Meder

VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation

VARS2 耗竭导致综合应激反应激活和线粒体脂肪酸氧化中断

Elham Kayvanpour, Michael Wisdom, Maximilian K Lackner, Farbod Sedaghat-Hamedani, Jes-Niels Boeckel, Marion Müller, Rose Eghbalian, Jan Dudek, Shirin Doroudgar, Christoph Maack, Norbert Frey, Benjamin Meder

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

基因型与表型互补:利用纳米孔长读长测序技术鉴定大型扩张型心肌病家族中LMNA剪接变体的致病性

Farbod Sedaghat-Hamedani,Sabine Rebs,Elham Kayvanpour,Chenchen Zhu,Ali Amr,Marion Müller,Jan Haas,Jingyan Wu,Lars M Steinmetz,Philipp Ehlermann,Katrin Streckfuss-Bömeke,Norbert Frey,Benjamin Meder

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease

扩张型心肌病和传导疾病大家族中 SCN5a p.C335R 变异的鉴定

Farbod Sedaghat-Hamedani, Sabine Rebs, Ibrahim El-Battrawy, Safak Chasan, Tobias Krause, Jan Haas, Rujia Zhong, Zhenxing Liao, Qiang Xu, Xiaobo Zhou, Ibrahim Akin, Edgar Zitron, Norbert Frey, Katrin Streckfuss-Bömeke, Elham Kayvanpour

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy

基因组结构变异导致扩张型心肌病中重要编码和非编码 RNA 物种失调

Jan Haas, Stefan Mester, Alan Lai, Karen S Frese, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Tobias Rausch, Rouven Nietsch, Jes-Niels Boeckel, Avisha Carstensen, Mirko Völkers, Carsten Dietrich, Dietmar Pils, Ali Amr, Daniel B Holzer, Diana Martins Bordalo, Daniel Oehler, Tanja Weis, Derliz Mereles