Results 161 to 170 of about 95,428 (234)

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source

Intrinsically Mitochondria‐Targeting Nanozyme via Coordination‐Assembly of Natural Quercetin for Cascade Antioxidant Therapy of Cerebral Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
This study uncovers that quercetin naturally targets mitochondria. By coordinating quercetin with Fe3+, we engineer an ultrasmall cascade nanozyme (MCN) with superoxide dismutase‐catalase activities. MCN crosses the damaged blood–brain barrier, scavenges mitochondrial ROS, prevents mitochondrial DNA leakage, and blocks the cGAS‐STING pathway, thereby ...
Wenxuan Zheng, Zhicheng Wang, Xin Zhou, Shuya Wang, Xiaojing Shi, Tingli Xiong, Ruishi Li, Yuting Lin, Zhen Chen, Jiawen Wei, Fei Li, Jinwen Ge, Kelong Ai, Chong Liu, Guiming Deng   +14 more
wiley   +1 more source

Advances in the Study of Dent Disease

Advances in Clinical Medicine, 2023
openaire   +1 more source

Endobody: Genetically Encodable Nanobody‐CPP Chimeras for Degradation of Membrane and Extracellular Proteins

Advanced Science, EarlyView.
We introduced genetically encodable, receptor‐independent nanobody‐CPP chimeras, termed endobodies, as robust and modular membrane protein degraders. Additionally, proteasome‐targeting domain (PTD)‐tethered endobody demonstrates further enhanced degradation potency.
Chengjian Zhou, Huiping He, Simin Xia, Xi Chen   +3 more
wiley   +1 more source

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies. [PDF]

Int J Mol Sci, 2020
Gianesello L, Ceol M, Bertoldi L, Terrin L, Priante G, Murer L, Peruzzi L, Giordano M, Paglialonga F, Cantaluppi V, Musetti C, Valle G, Del Prete D, Anglani F, Network DDI.   +14 more
europepmc   +1 more source

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
Background Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5(Dent disease 1) and OCRL(Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing ...
openaire  

The E3 Ligase RNF115 Aggravates Pathological Cardiac Hypertrophy via Ubiquitin‐Mediated Degradation of SPTBN1

Advanced Science, EarlyView.
In response to hypertrophic stimuli, increased c‑JUN phosphorylation upregulates RNF115, leading to SPTBN1 ubiquitination and degradation. which promotes F‑actin depolymerization and YAP activation, driving cardiac hypertrophy. The RNF115 inhibitor DTD effectively suppresses SPTBN1 ubiquitination and cardiac hypertrophy.
Yan Zu, Shiqing Chen, Ji Chen, Liuliu Ruan, Bowen Li, Weijian Chu, Shichen Huang, Dian Yu, Jing Tian, Yuhan Zhao, Yi Han, Xin Tang, Yong Ji   +12 more
wiley   +1 more source

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1. [PDF]

Int J Mol Sci
Perdomo-Ramírez A, Ramos-Trujillo E, Machado JD, García-Nieto V, Mura-Escorche G, Claverie-Martin F, RenalTube Group.   +6 more
europepmc   +1 more source

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]

Clin Exp Nephrol, 2020
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K.   +13 more
europepmc   +1 more source

Ultrasound‐Activatable Piezoelectric Hydrogel Reprograms Mitochondrial Epigenetics for Osteoarthritis Therapy via the mTOR/GATD3A Axis

Advanced Science, EarlyView.
An ultrasound‐activatable piezoelectric hydrogel reprograms chondrocyte mitochondrial epigenetics via the mTOR/GATD3A axis, clearing damaged mitochondria and alleviating osteoarthritis progression in both mouse models and human cartilage explants. ABSTRACT The avascular nature of cartilage hinders drug delivery for osteoarthritis (OA) therapy.
Hui Zheng, Pengfei Yan, Peng Liu, Chang Yan, Mengqi Zhao, Zuyong Wang, Chao Ma, Rongkai Zhang, Xi Cui, Swee Hin Teoh   +9 more
wiley   +1 more source