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

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance

RYR2-CPVT错义变异的结构评估及其外显率的连续贝叶斯估计

Dauda, Kundivy; Yamauchi, Kohei; Ku, Matthew; Mitchell, Devyn W; Shen, Alex; Vanags, Loren; Schmeckpeper, Jeffrey; Kannankeril, Prince J; Knollmann, Bjorn C; O'Neill, Matthew J; Kroncke, Brett M

The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study

RYR1变异体的临床、组织学和遗传谱——一项以色列多中心队列研究

Ginsberg, Mira; Michelson, Marina; Aharoni, Sharon; Sagie, Liora; Michaeli, Yael; Rotenberg, Ditza; Finkelshtein, Vitaly; Yosovich, Keren; Argov, Zohar; Nissenkorn, Andrea; Lev, Dorit; Sadeh, Menachem; Dabby, Ron

Clinical and Genetic Spectrum of RYR1-Related Disease

RYR1相关疾病的临床和遗传谱

Sarıkaya Uzan, Gamze; Özyılmaz, Berk; Doğan, Gizem; Baydan, Figen; Güzin, Yiğithan; Gençpınar, Pınar; Gazeteci Tekin, Hande; Olgaç Dündar, Nihal

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence

全基因组序列鉴定出第二个等位基因:RYR1基因内含子变异导致早发性胎儿运动不能畸形序列

Wang, Miaomiao; Hong, Jiawei; Han, Shuning; Jin, Pengzhen; Xu, Chunfei; Qian, Yeqing; Dong, Minyue

Multilocus pathogenic variants in MCM4, RYR1, and G6PD identified by trio-based whole-exome sequencing in a neonate with multisystem symptoms: a case report

通过基于三联体的全外显子组测序,在一名出现多系统症状的新生儿中鉴定出MCM4、RYR1和G6PD的多位点致病变异:病例报告

Zhu, Kailai; Yi, Ying; Shen, Yijing; Yang, Sufang; Zheng, Fang; Yang, Jinglin; Zhang, Heng; Wang, Chuanguang

Direct Therapeutic Modulation of RYR2 Activity by CMYA5

CMYA5 对 RYR2 活性的直接治疗性调节

Lu, Fujian; Wu, Zexuan; Chi, Shaopeng; Wang, Yangong; Ponek, Anna; Ma, Qing; Chen, Chunjing; Shi, Bingbing; Pavlaki, Nikoleta; Liou, Carter; Tharani, Yashasvi; Prondzynski, Maksymilian; Talab, Sanam Shafaat; Xie, Wenjun; Chen, Yu Seby; Guo, Zengpin; Lipsitz, Stuart R; Zhang, Donghui; van Petegem, Filip; Bezzerides, Vassilios J; Pu, William T

Decreased RYR2 Cluster Size and Abnormal SR Ca(2+) Release Contribute to Arrhythmogenesis in TMEM43-Related ARVC.

RYR2 簇大小减少和 SR Ca(2+) 释放异常导致 TMEM43 相关 ARVC 发生心律失常。

Shen Jiaxi, Wang Xiaochen, Fan Hangping, Sun Yaxun, Gong Tingyu, Qiu Hangyuan, Wang Jue, Pan Ziwei, Dang Yanna, Wang Hongkun, Zhou Danni, Zhu Tianyi, Wang Hao, Chen Xianzhen, Xu Lizhen, Su Jun, Yang Fan, Tang Yiquan, Li Xuguang, Yang Bing, Zhuang Lenan, Wang Wei, Jiang Chenyang, Liang Ping

RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data

RYR2 变异体在儿茶酚胺敏感性多形性室性心动过速患者中的研究:来自蛋白质结构和临床数据的启示

Chang, Alexander; Beqaj, Halil; Sittenfeld, Leah; Miotto, Marco C; Dridi, Haikel; Willson, Gloria; Martinez Jorge, Carolyn; Altosaar Li, Jaan; Reiken, Steven; Liu, Yang; Dai, Zonglin; Tchagou, Carl; Elsayed, Sana; Marx, Steven O; Marks, Andrew R

Prognostic relevance of baseline exercise stress test in RYR2-related CPVT

RYR2相关儿茶酚胺敏感性室性心动过速(CPVT)中基线运动负荷试验的预后意义

Kukavica, Deni; Pili, Gianluca; Trancuccio, Alessandro; Giannini, Gala; Pergola, Valerio; Memmi, Mirella; Gambelli, Patrick; Marino, Maira; Morini, Massimo; Bloise, Raffaella; Napolitano, Carlo; Mazzanti, Andrea; Priori, Silvia G

Phosphorylation of RYR1 at Ser(2902) decreases Ca(2+) leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke

RYR1蛋白Ser(2902)位点的磷酸化可降低骨骼肌中Ca²⁺的泄漏,并降低恶性高热和中暑的易感性

Yee, Rachel Sue Zhen; Lee, Chang Seok; Chang, Ting; Jung, Sung Yun; Yousif, Omar; Cavazos, Courtney; Colyer, John; Van Petegem, Filip; Rodney, George G; Hamilton, Susan L