A rare HCN4 variant combined with sick sinus syndrome, left ventricular noncompaction, and complex congenital heart disease [0.03%]
罕见的HCN4变异合并病窦综合征、左心室非 compaction 和复杂先天性心脏病
Fengxiao Zhang,Ning Zhao,Lin Wang et al.
Fengxiao Zhang et al.
The hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 (HCN4) gene has been reported to regulate the spontaneous depolarization of sinoatrial node cells. A novel HCN4 mutation (c.2036 G>A) may lead to sick sinus syndrom...
Astrocytic abnormalities in brain-specific Cacna1c-deficient mice: Implications for BBB impairment in neuropsychiatric diseases associated with CACNA1C mutations [0.03%]
脑特异性Cacna1c缺陷型小鼠的星形胶质细胞异常：对与CACNA1C突变相关的神经精神疾病血脑屏障损伤的意义
Yeojung Koh,Maria Noterman-Soulinthavong,Anusha Bangalore et al.
Yeojung Koh et al.
Intronic genetic variants within the CACNA1C gene, which encodes the pore-forming alpha 1c subunit of the Cav1.2 L-type calcium channel, are significant risk factors for a multitude of neuropsychiatric disorders. In most cases, these intron...
Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies [0.03%]
扩张型心肌病中的钙处理重塑：从分子机制到靶向治疗
Yuhan Wang,Tingting Zhou,Jiajing Zhao et al.
Yuhan Wang et al.
Calcium ions play a crucial role in cardiac excitation-contraction (EC) coupling, and disruptions in Ca2+ homeostasis are a key factor in the development of dilated cardiomyopathy (DCM). This review aims to systematically analyze how struct...
The research progress into cellular mechanosensitive ion channels mediating cancer pain [0.03%]
细胞机械敏感性离子通道介导癌痛的研究进展
Chang Liu,Haiyan Li,Lihua Hang
Chang Liu
Cellular mechanotransduction refers to the process through which cells perceive mechanical stimuli and subsequently translate them into biochemical signals. Key mechanosensitive ion channels encompass PIEZO, TREK-1, and TRESK. These mechano...
Structural and functional mapping of ion access pathways in the human K+-dependent Na+/Ca2+ exchanger NCKX2 using cysteine scanning mutagenesis, thiol-modifying reagents, and homology modelling [0.03%]
基于半胱氨酸扫描诱变、巯基修饰试剂和同源建模的人K+依赖的Na+/Ca2+交换器NCKX2离子通道结构与功能研究
Robert T Szerencsei,Shitian Cai,Hristina R Zhekova et al.
Robert T Szerencsei et al.
K+-dependent Na+/Ca2+ exchanger proteins (NCKX) are members of the CaCA superfamily with critical roles in vision, skin pigmentation, enamel formation, and neuronal functions. Despite their importance, the structural pathways governing cati...
Kunlong Xiong,Shulei Lou,Zuoyu Lian et al.
Kunlong Xiong et al.
N-methyl-D-aspartate receptors (NMDARs) are heterotetrameric ion channels that play crucial roles in brain function. Among all the NMDAR subtypes, GluN1-N3 receptors exhibit unique agonist binding and gating properties. Unlike "conventional...
Piezo1 in microglial cells: Implications for neuroinflammation and tumorigenesis [0.03%]
微胶质细胞中的Piezo1：对神经炎症和肿瘤发生的启示
Bo Yang,Zhenyu Li,Peiliang Li et al.
Bo Yang et al.
Microglia, the central nervous system (CNS) resident immune cells, are pivotal in regulating neurodevelopment, maintaining neural homeostasis, and mediating neuroinflammatory responses. Recent research has highlighted the importance of mech...
Electrophysiological characterization of sourced human iPSC-derived motor neurons [0.03%]
源自人类iPSC的运动神经元的电生理特征分析
Bohumila Jurkovicova-Tarabova,Robin N Stringer,Zuzana Sevcikova Tomaskova et al.
Bohumila Jurkovicova-Tarabova et al.
Induced pluripotent stem cell (iPSC)-derived motor neurons provide a powerful platform for studying motor neuron diseases. These cells enable human-specific modeling of disease mechanisms and high-throughput drug screening. While commercial...
Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies [0.03%]
探索基因治疗在Cav1.4相关视网膜通道病中的潜力
Matthias Ganglberger,Alexandra Koschak
Matthias Ganglberger
The visual process begins with photon detection in photoreceptor outer segments within the retina, which processes light signals before transmission to the thalamus and visual cortex. Cav1.4 L-type calcium channels play a crucial role in th...
Role of the C-terminal domain in modifying pH-dependent regulation of Cav1.4 Ca2+ channels [0.03%]
C末端结构域在修改Cav1.4钙离子通道的pH依赖性调节中的作用
Juan de la Rosa Vázquez,Amy Lee
Juan de la Rosa Vázquez
In the retina, Ca2+ influx through Cav1.4 Ca2+ channels triggers neurotransmitter release from rod and cone photoreceptors. Changes in extracellular pH modify channel opening, enabling a feedback regulation of photoreceptor output that cont...