Developmental Dynamics, EarlyView.Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane +4 more
wiley +1 more source
From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks. [PDF]
BiomedicinesMenna F +6 more
europepmc +1 more source
Foundation Models in Diagnosis of Ophthalmic Diseases: Construction and Application
Eye &ENT Research, EarlyView.ABSTRACT Artificial intelligence holds promise for addressing the uneven distribution of medical resources across different regions. Compared with convolutional neural network models, foundation models offer significant advantages: on one hand, their pre‐training does not rely on massive labeled data; on the other hand, they possess the capability to ...
Xiaolu Huang +7 more
wiley +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1237-1245, April 2025.Abstract Aims Immune checkpoint inhibitors (ICI) are the cornerstone of modern oncology; however, side effects such as ICI‐related myocarditis (irM) can be fatal. Recently, Bonaca proposed criteria for irM; however, it is unknown if they correlate well with cardiovascular (CV) ICI‐related adverse events.
Lorenzo Braghieri +12 more
wiley +1 more source
Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data. [PDF]
PLoS OneJoskowicz L +8 more
europepmc +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning. [PDF]
Hum MutatRauch DE +13 more
europepmc +1 more source
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Epilepsia, EarlyView.Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source
Compliance to intravitreal anti-vascular endothelial growth factors for treatment of retinal diseases in Nigerians: a retrospective multicenter study. [PDF]
BMC OphthalmolOkonkwo ON +5 more
europepmc +1 more source
WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy
Epilepsia, EarlyView.Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara +7 more
wiley +1 more source