Results 131 to 140 of about 91,518 (258)

Splice-Site Mutation [PDF]

, 2019
openaire   +1 more source

Supramolecular Degraders: An Emerging Paradigm in Targeted Protein Degradation

Advanced Science, EarlyView.
Dynamic supramolecular assembly reshapes targeted protein degradation by coordinating modular degrader construction, delivery, functional integration, and intracellular assembly or activation across proteasomal, endosomal–lysosomal, and autophagy–lysosomal pathways.
Kongjun Liu, Xue Yuan, Yan Zhou, Rui Yuan, Shaocheng Xie, Yong Chen, Peiyi Wang, Jianmei Gao, Qihai Gong   +8 more
wiley   +1 more source

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient. [PDF]

Front Genet, 2022
Ji G, Wang N, Han X, Wang Y, Zhang J, Wu Y, Wu H, Ma S, Song X.   +8 more
europepmc   +1 more source

Macrophage PABPC4‐SPP1 Axis Orchestrates Immunosuppression in Colorectal Cancer

Advanced Science, EarlyView.
In the CRC microenvironment, macrophage PABPC4 binds to the 3′UTR of SPP1 mRNA to stabilize its expression, thereby sustaining M2‐like immunosuppressive macrophage polarization. Concurrently, this axis suppresses CD8+ T cell effector functions via CD44 signaling, collectively fostering an immunosuppressive niche that drives tumor progression.
Meng Wang, Fang Yang, Yuan Gao, Liuli Li, Yulan Huang, Hui Yao, Sijie Zhao, Kun Zhao, Tianying Zhang, Hui Heng, Jiaxin Xu, Yuancai Xiang, Weidong Xiao, Shaofan Hu, Hongming Miao   +14 more
wiley   +1 more source

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report. [PDF]

World J Clin Cases, 2022
Chang YY, Yu CQ, Zhu L.
europepmc   +1 more source

In Vivo Direct Reprogramming: Current Progress and Future Prospects from Mechanisms to Therapeutic Application

Advanced Science, EarlyView.
This review examines the potential of in vivo direct reprogramming in regenerative medicine for functional tissue restoration, highlighting the role of tissue‐resident cues in generating functionally mature reprogrammed cells from lineage‐related cells. It contains a discussion on mechanisms, reprogramming factors, delivery approaches, and applications
Rishabh Deo Singh, Mauro Calvoli, Kyeong Kyu Kim   +2 more
wiley   +1 more source

Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report. [PDF]

Biomed Rep, 2022
Bogomilova Kamburova Z, Lubenova Popovska S, Stefanova Kovacheva K, Todorov Petrov K, Enkova Nikolova S.   +4 more
europepmc   +1 more source

Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations

Acta Dermato Venereologica, 2014
Dimitra, Kiritsi, Laura, Huilaja, Claus-Werner, Franzke, Nina, Kokkonen, Chiara, Pazzagli, Agnes, Schwieger-Briel, Markku, Larmas, Leena, Bruckner-Tuderman, Cristina, Has, Kaisa, Tasanen   +9 more
openaire   +3 more sources

An RNA‐Binding Protein RBMS1 Promotes Endothelial Cell Autophagy to Maintain Vascular Homeostasis and Suppress Deep Vein Thrombosis

Advanced Science, EarlyView.
RBMS1, an RNA‐binding protein, restores vascular endothelial homeostasis by enhancing ATG3‐mediated autophagy, thereby attenuating thrombus formation and suggesting a potential avenue for further therapeutic exploration in DVT. ABSTRACT Deep vein thrombosis (DVT) is a prevalent vascular disorder characterized by aberrant coagulation within the deep ...
Chu Chu, Xinkui Liu, Nannan Fan, Xiaoyan Yu, Qiaoqiao Han, Yunhong Zhang, Wei Li, Yongqing Cai, Miaomiao Zhou, Fang Li, Feifei Shi, Zhen Zhang, Bin Wang, Xia Li   +13 more
wiley   +1 more source

Case Report: A Case of Hailey-Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene. [PDF]

Front Genet, 2021
Dai Y, Yu L, Wang Y, Gao M, Wang P.
europepmc   +1 more source