Results 181 to 190 of about 5,172,195 (247)

In vivo genome editing for inherited retinal disease: Opportunities and challenges. [PDF]

Mol Ther
Collin RWJ, Leroy BP.
europepmc   +1 more source

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

Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies. [PDF]

Gene Ther
Thirunavukarasu AJ, Raji S, Cehajic Kapetanovic J.   +2 more
europepmc   +1 more source

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source

Exploring standard and low luminance visual acuity and the Moorfields Acuity Chart as outcome measures in inherited retinal disease. [PDF]

Ophthalmic Physiol Opt
Taylor LJ, Josan AS, MacLaren RE.
europepmc   +1 more source

Artificial Intelligence in Ophthalmology: From Methodological Advances to Clinical Translation and Future Directions

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) is reshaping ophthalmology from task‐specific image analysis toward multimodal, longitudinal, and clinically integrated decision support. This narrative review summarizes the methodological evolution of ophthalmic AI, including traditional machine learning, task‐specific deep learning, self‐supervised learning ...
Yuxin Liu, Hanruo Liu
wiley   +1 more source

Exonic splice variant discovery using in vitro models of inherited retinal disease. [PDF]

HGG Adv
Mullin NK, Bohrer LR, Anfinson KR, Andorf JL, Mullins RF, Tucker BA, Stone EM.   +6 more
europepmc   +1 more source

Artificial Intelligence for Distinguishing Glaucoma From Its Mimickers: A Narrative Review of Diagnostic Pitfalls, Validation Gaps, and Clinical Translation

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) has advanced rapidly in glaucoma, but many models remain optimized for case‐control detection rather than the clinically harder task of distinguishing glaucoma from its mimickers. This narrative review primarily examined literature published from January 2018 to March 2026 on glaucoma AI, difficult comparator ...
Cansu Yüksel Elgin
wiley   +1 more source

Corrigendum to: Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65. [PDF]

Med Genet
Lorenz B.
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