Results 71 to 80 of about 302,141 (331)
FEBS Open Bio, EarlyView.The inactivation of SLC35C1 (GDP‐fucose transporter) and enzymes involved in GDP‐fucose biosynthesis was studied. Fucose supplementation increases the level of GDP‐fucose to abnormal, millimolar values in the absence of the TSTA3 protein and SLC35C1 in contrast to the GMDS/SLC35C1 double mutant.
Edyta Skurska, Mariusz Olczak
wiley +1 more source
The burden of congenital Chagas disease and implementation of molecular diagnostic tools in Latin America [PDF]
, 2018 It is estimated that between 8000 and 15 000 Trypanosoma cruzi infected babies are born every year to infected mothers in Chagas disease endemic countries. Currently, poor access to and performance of the current diagnostic algorithm, based on microscopy
Cruz, Israel +7 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova +5 more
wiley +1 more source
Advanced Functional Materials, EarlyView.Joule‐assisted nanotherapeutic urethral stent harnesses a smart, biodegradable magnesium stent to orchestrate spatiotemporal theragenerative therapy for urethral strictures. Magnetically induced Joule heating enables on‐demand drug release and bacterial ablation, while simultaneously guiding urothelial regeneration.
Yuhyun Na +15 more
wiley +1 more source
Advanced Functional Materials, EarlyView.This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput +5 more
wiley +1 more source
Advanced Science, EarlyView.AAV2.7m8 serotype combined with the gfaABC1D promoter targets infection of supporting cells (SCs). AAV2.7m8‐gfaABC1D‐Gjb2 administration to mice results in excessive immune responses. The combination of AAV2.7m8‐gfaABC1D‐Gjb2 with dexamethasone (DEX) shows a synergistic effect and enhances the gene therapy effect in a conditional Cx26 null mice model ...
Xiaohui Wang +8 more
wiley +1 more source
Advanced Science, EarlyView.Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu +7 more
wiley +1 more source
Advanced Science, EarlyView.Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei +15 more
wiley +1 more source
Advanced Science, EarlyView.Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng +11 more
wiley +1 more source