Results 201 to 210 of about 2,469,822 (264)

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

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, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks. [PDF]

Biomedicines
Menna F, Pinelli C, De Luca L, Meduri A, Baldascino A, Lupo S, Vingolo EM.   +6 more
europepmc   +1 more source

Long‐term cardiovascular outcomes of immune checkpoint inhibitor‐related myocarditis: A large single‐centre analysis

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, Ahmad Gharaibeh, Lubika Nkashama, Abdelrahman Abushouk, Osama Abushawer, Amir Mehdizadeh‐Shrifi, Bianca Honnekeri, Cassandra Calabrese, Venu Menon, Pauline Funchain, Patrick Collier, Diego Sadler, Rohit Moudgil   +12 more
wiley   +1 more source

Integrative Network Pharmacology Analysis of Gut Microbial Metabolite-Mediated Gut-Eye Axis Regulation in Major Blinding Retinal Diseases. [PDF]

Ophthalmol Sci
Wei B, Zhang J, Duan Y, Cheng N, Wu X.
europepmc   +1 more source

Synthesis of β‐ and γ‐Carbolinones Through a Fe(III)‐Mediated Radical 6‐Endo‐Trig Cyclization of Indole‐Based Ugi 4‐CR Adducts

European Journal of Organic Chemistry, EarlyView.
A practical strategy for synthesizing β‐ and γ‐carbolinones from indole‐based Ugi 4‐CR adducts through an intramolecular radical cyclization using Fe(III)–H species is presented. This approach enables the efficient synthesis of spiro‐carbolinones under mild reaction conditions and demonstrates the effectiveness of secondary radicals in both cyclization
María F. Olvera‐Granados, Luis A. Polindara‐García   +1 more
wiley   +1 more source

Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning. [PDF]

Hum Mutat
Rauch DE, Wang M, Hafiz MJH, Brock DC, Li Y, Marra M, Pennesi ME, Yang P, Lesley E, Lopez I, Koenekoop R, Collantes ER, Bolinao J, Chen R.   +13 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Knowledge, attitudes, and practices among guardians toward inherited retinal diseases: a structural equation modeling analysis. [PDF]

Sci Rep
Chen X, Ran Y, Wen N, Fan S, Wen M, Feng Z, Jiang J, Huang S.   +7 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Discharge patterns of retinal ganglion cells in rodent models of degenerative retinal diseases [PDF]

, 2012
Menzler, Jacob
core   +1 more source