Results 41 to 50 of about 1,298,739 (158)
Advanced Science, EarlyView.MG‐1 is a bifunctional small molecule that enhances the removal of damaged mitochondria through autophagy, the cell's recycling pathway. Its activity increases under mitochondrial stress, with minimal effects on basal autophagy. MG‐1 also improves movement in a zebrafish model of mitochondrial dysfunction, supporting further investigation of this ...
Ratislav M. Ozhiganov +24 more
wiley +1 more source
Understanding activity participation among individuals with Wolfram syndrome
, 2018 Introduction Wolfram syndrome is a rare genetic disease associated with a variety of progressive metabolic and neurologic impairments. Previous research has focused on Wolfram syndrome-related impairments and biomarkers for disease progression; however ...
Erin R Foster +6 more
core +1 more source
BMEMat, EarlyView.Defect‐engineered WO3 nanowires serve as a multifunctional nanozyme platform to treat IBD complicated by Salmonella co‐infection. By integrating catalytic ROS/RNS scavenging and targeted metabolic interference of pathogens via molybdenum substitution, these nanowires effectively resolve intestinal oxidative stress, inhibit infection, and restore ...
Yifan Yuan +13 more
wiley +1 more source
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source
Association of Wolfram syndrome with Fallot tetralogy in a girl
, 2016 Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a rare neurodegenerative disorder. Mutations of the WFS1 (wolframin) on chromosome 4 are responsible for the clinical manifestations in majority of patients ...
Korkmaz, Huseyin A. +5 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n
Sophie von Brauchitsch +27 more
wiley +1 more source
Wolfram Sendromlu Hastalarda Optik Koherans Tomografi Bulguları
, 2014 Objectives: To report the optical coherence tomography (OCT) findings in patients with Wolfram syndrome. Materials and Methods: Four patients who fulfilled the criteria for Wolfram syndrome were recruited to the study.
Şansal Gedik +3 more
core +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Jornal de Pediatria, 2002 Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW) e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato ...
Paulo R.G. Zen +4 more
doaj +1 more source
Stem Cell Research, 2020 Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease.
Dawid P. Grzela +2 more
doaj +1 more source