Results 131 to 140 of about 339,258 (186)
Synthesis and Characterization of Photoswitchable Covalent Ligands for the β2‐Adrenoceptor
Angewandte Chemie, EarlyView.A structure‐based design of a covalent photoswitchable ligand for the β2‐adrenergic receptor, a therapeutically relevant GPCR, is described. This tool facilitates the modification of the intrinsic activity of the protein by light. Computational analysis of its mechanism of action suggests that the photoswitch takes place within the binding pocket ...
Ulrike Wirth +9 more
wiley +2 more sources
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon +20 more
wiley +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The present study investigates the role of the NLRP3 inflammasome in the chronicity of ocular inflammation in uveitis using the experimental autoimmune uveitis (EAU) model. Whole eyes collected from EAU mice, 12 weeks post induction, were sectioned and subjected to immunohistochemistry. The confocal images from these sections were then assessed for the
Avik Shome +3 more
wiley +1 more source
RETINITIS PIGMENTOSA AND RETINITIS PUNCTATA ALBESCENS [PDF]
British Journal of Ophthalmology, 1932 openaire +3 more sources
Angewandte Chemie International Edition, Accepted Article.This review explores the potential of mechanochemistry in the late‐stage modification of active pharmaceutical ingredients (APIs), offering a comprehensive analysis of methods designed to transform structurally complex molecular scaffolds. By examining the scope, efficiency, and mechanistic aspects of these approaches, the review highlights protocols ...
Johanna Templ, Lars Borchardt
wiley +1 more source
The Anatomical Record, EarlyView.Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin +9 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Hibernation induces significant molecular and cellular adaptations in the retina to maintain function under reduced metabolic conditions. This study aimed to investigate the expression of neuronal, synaptic, and glial markers in the retina of Spermophilus xanthoprymnus during pre‐hibernation and hibernation periods using immunohistochemical ...
Mehmet Özbek +5 more
wiley +1 more source