Results 71 to 80 of about 5,172,195 (247)

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Early Retinal UCHL1 Dysregulation Coupled With Synaptic Loss Reflects Alzheimer's Disease Severity

Advanced Science, EarlyView.
This study identifies synapse‐enriched deubiquitinase UCHL1 as an early Aβ‐responsive regulator of retinal synaptopathy in Alzheimer's disease. Retinal UCHL1 loss accompanies excitatory synapse degeneration, p75NTR activation, and neuroinflammation, and predicts Braak stage and cognitive decline. Aβ42 fibrils trigger synaptic and UCHL1 depletion before
Altan Rentsendorj, Jean‐Philippe Vit, Alexandre Hutton, Yosef Koronyo, Saba Shahin, Edward Robinson, Ernesto Barron, Anthony Rodriguez, Ousman Jallow, Julia Sheyn, Bhakta Prasad Gaire, Lalita Subedi, Miyah R. Davis, Barathan Gnanabharathi, Alexander V. Ljubimov, Stuart L. Graham, Vivek K. Gupta, Mehdi Mirzaei, Debra Hawes, Katlin Silm, Keith L. Black, Lon S. Schneider, Alfredo A. Sadun, Jesse G. Meyer, Dieu‐Trang Fuchs, Maya Koronyo‐Hamaoui   +25 more
wiley   +1 more source

Organoid Brain‐Machine‐Interface Devices for Central Nervous System Repair

Advanced Science, EarlyView.
We envision organoid brain‐machine‐interface (Organoid‐BMI) devices as new biohybrid bidirectional communication pathways to connect the human CNS and the external world for personalized CNS repair and regeneration. ABSTRACT Central nervous system (CNS) repair and regeneration suffer from tremendous clinical challenges due to current limitations in ...
Yantao Xing, Yang Yang, Zichen Hong, Chunhui Tian, Huiyu Chu, Susanne Clara Prokop, Hongwei Cai, Mingxia Gu, Jason Tchieu, Ken Mackie, Feng Guo   +10 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Clearing the AIR: A PRPH2 mutation identified in the evaluation of presumed autoimmune retinopathy

American Journal of Ophthalmology Case Reports
Purpose: To detail the identification of a likely pathogenic variant in PRPH2 in a daughter-father duo, highlighting the diagnostic challenges in differentiating nonparaneoplastic autoimmune retinopathy (npAIR) from inherited retinal degeneration (IRD ...
Francisco J. Bonilla-Escobar, Charlie Sawyer, Paul Yang, Kathryn L. Pepple   +3 more
doaj   +1 more source

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Cell Death and Disease
PRLΔE1, a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while PRLΔE1 expression in rods is not associated with the initial phase of disease characterized by ...
Raghavi Sudharsan, Jennifer Kwok, Malgorzata Swider, Alexander Sumaroka, Gustavo D. Aguirre, Artur V. Cideciyan, William A. Beltran   +6 more
doaj   +1 more source

Pasta, a Versatile Transcriptomic Clock, Maps the Chemical and Genetic Determinants of Aging and Rejuvenation

Advanced Science, EarlyView.
Pasta is a transcriptomic aging clock built on an age‐shift learning framework and trained on 17 000 samples across 21 datasets. It accurately predicts relative biological age across tissues, platforms, and species, captures stemness‐to‐senescence transitions, and identifies age‐modulatory perturbations.
Jérôme Salignon, Maria Tsiokou, Patricia Marqués, Enriqueta Rodríguez‐Diaz, Hazel Ang, Federico Pietrocola, Christian G. Riedel   +6 more
wiley   +1 more source

An Aggregation‐Induced Polymerization Poly(Disulfide)‐Drug Nanoplatform for Autoimmune Uveitis Therapy via Inhibiting the cGAS‐STING Pathway

Advanced Science, EarlyView.
A cationic poly(disulfide)‐drug nanoplatform (LA/DexP) was developed to treat experimental autoimmune uveitis (EAU). With potent blood‐retinal barrier penetrability, LA/DexP releases DSP in response to high ROS and scavenges cfDNA to inhibit the cGAS‐STING signaling pathway.
Yuelan Wu, Wenbo Geng, Qinjin Dai, Wanyun Zhang, Yuxian Lai, Pei Zhang, Chunjiang Zhou, Yinuo Wang, Qingfeng Cao, Xiang Luo, Yujie Lai, Changwei Huang, Peizeng Yang   +12 more
wiley   +1 more source

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations

Taiwan Journal of Ophthalmology
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases.
Brian J. H. Lee, Christopher Z. Y. Sun, Charles J. T. Ong, Kanika Jain, Tien-En Tan, Choi Mun Chan, Ranjana S. Mathur, Rachael W. C. Tang, Yasmin Bylstra, Sylvia P. R. Kam, Weng Khong Lim, Beau J. Fenner   +11 more
doaj   +1 more source