Results 51 to 60 of about 281,817 (339)
Pyroptosis, a novel mechanism implicated in cataracts.
Molecular Medicine Reports, 2018 An understanding of the mechanism of cataract formation may reduce its burden on medical care worldwide. It is established that pyroptosis is associated with oxidative stress, one of the causes of cataracts, and may provide novel therapeutic targets for ...
Xin Jin +4 more
semanticscholar +1 more source
OftalʹmologiâAge-associated glaucoma and cataracts in combination with sarcopenic obesity, formed mainly against the background of physical inactivity due to vision deficiency, potentially contribute to a decrease in patients’ activity in everyday life, but the ...
O. L. Fabrikantov +2 more
doaj +1 more source
Diabetes, 2017 Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes.
E. De Franco +15 more
semanticscholar +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Mechanism of action of VP1-001 in cryAB(R120G)-associated and age-related cataracts [PDF]
, 2019 PurposeWe previously identified an oxysterol, VP1-001 (also known as compound 29), that partially restores the transparency of lenses with cataracts. To understand the mechanism of VP1-001, we tested the ability of its enantiomer, ent-VP1-001, to bind ...
Andley, Usha P. +10 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Frontiers in Public Health, 2021 Objective: This study aimed to explore gender differences in the associations between cataracts and self-reported depression and chronic anxiety in Spanish adults with diabetes.Methods: Cross-sectional data from the Spanish Health Survey 2017 were ...
Guillermo F. López Sánchez +7 more
doaj +1 more source
Comorbidities in aging patients with sickle cell disease. [PDF]
, 2018 Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing ...
Ballas, Samir K.
core +2 more sources
CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts
Scientific Reports, 2016 Cataracts are the leading cause of vision loss in the world, although surgical treatment can restore vision in cataract patients. Until now, there have been no adequate animal models for in vivo studies of artificial lens safety and drug interactions ...
Lin Yuan +9 more
semanticscholar +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source