Results 131 to 140 of about 378,998 (299)
Studies on muscular dystrophy associated genes [PDF]
, 2007 Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core
Advanced Science, EarlyView.This diagram illustrates that night shift work disrupts circadian clock genes (like CLOCK, BMAL1) in both humans and mice. This disruption leads to mitochondrial dysfunction (imbalanced fusion/fission proteins) and increased oxidative stress, which is identified as the primary mechanism ultimately causing elevated blood pressure.
Zhaoqiang Jiang +16 more
wiley +1 more source
Rehabilitation management for patients with spinal muscular atrophy: a review
Orphanet Journal of Rare DiseasesThe rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj +1 more source
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran
, 2019 Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R +4 more
core
Advanced Science, EarlyView.The pre‐regenerative vascular niche (PVN) is essential for nerve repair, yet its endothelial blueprint remains unclear. We identified angiogenic ECs (AECs) as the dominant pre‐regenerative subset and found that antler blood–derived exosomes (AB‐EXO) promote repair via IMP3.
Jinsheng Huang +11 more
wiley +1 more source
Objectives This study aims to systematically collect data on cost-effectiveness analyses that assess technologies to treat type I and II spinal muscular atrophy and evaluate their recommendations.
Carvalho, Lélia +5 more
core +1 more source
Polychip‐A High‐Throughput Droplet Microfluidics Platform for Interrogating Microbial Interactions
Advanced Science, EarlyView.Polychip, a fully integrated droplet microfluidics platform, enables high‐throughput, single‐cell resolution screening of polymicrobial interactions. By seamlessly combining six automated microfluidics operations on a single chip, the system accelerates antimicrobial discovery by 11 to 14 times compared to traditional robotic methods.
Jeong Jae Han +11 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 +25 more
wiley +1 more source
Advanced Science, EarlyView.A pneumatically actuated multi‐tissue microphysiological system is integrated with AI‐based machine vision and automatic sampling and replenishment systems. The platform allows for the emulation of translationally relevant long‐term pharmacokinetic exposure scenarios for multiple weeks while enabling longitudinal monitoring of response biomarkers ...
Jibbe Keulen +15 more
wiley +1 more source
Advanced Science, EarlyView.This work develops a soft hybrid electronic system with printed thermoresponsive hydrogel electrodes, which enables high‐fidelity neural signal acquisition and stimulation. The system precisely assesses median and ulnar nerve injuries in clinical cases, realizing accurate diagnosis of neural impairment while ensuring customized adhesion regulation ...
Bo Pang +13 more
wiley +1 more source