Results 41 to 50 of about 1,104 (159)
Frontiers in Molecular Neuroscience, 2023 During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss.
Anna S. E. N. Naggert +4 more
doaj +1 more source
Fundamental Neurochemistry Review: The role of enteroendocrine cells in visceral pain
Journal of Neurochemistry, Volume 167, Issue 6, Page 719-732, December 2023., 2023 In this Fundamental Neurochemistry Review, we discuss the novel interaction between enteroendocrine cells (EECs) and spinal afferent nociceptors and their role in visceral pain. We focus on the role of the intestinal membrane receptor guanylyl cyclase C (GUCY2C) in visceral nociception and its potential as a therapeutic target.
Annie Londregan +3 more
wiley +1 more source
Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases
The FEBS Journal, Volume 290, Issue 22, Page 5248-5269, November 2023., 2023 Clustered regularly interspaced short palindromic repeats (CRISPR) technology is a rapidly evolving therapeutic platform that holds more benefits compared to other gene editing techniques. CRISPR/CRISPR‐associated protein 9 (Cas9)‐based gene editing of various genetic, non‐genetic and infectious factors for a wide spectrum of ocular conditions have ...
Yogapriya Sundaresan +5 more
wiley +1 more source
The Concise Guide to PHARMACOLOGY 2023/24: Catalytic receptors
British Journal of Pharmacology, Volume 180, Issue S2, Page S241-S288, October 2023., 2023 The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and nearly 6000 interactions with about 3900 ligands.
Stephen P. H. Alexander +27 more
wiley +1 more source
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients. [PDF]
PLoS ONE, 2013 BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy ...
Anshuman Verma +4 more
doaj +1 more source
Pathogenic mutation hotspots in protein kinase domain structure
Protein Science, Volume 32, Issue 9, September 2023., 2023 Abstract Control of eukaryotic cellular function is heavily reliant on the phosphorylation of proteins at specific amino acid residues, such as serine, threonine, tyrosine, and histidine. Protein kinases that are responsible for this process comprise one of the largest families of evolutionarily related proteins.
Kirill E. Medvedev +3 more
wiley +1 more source
Control of human pancreatic beta cell kinome by glucagon‐like peptide‐1 receptor biased agonism
Diabetes, Obesity and Metabolism, Volume 25, Issue 8, Page 2105-2119, August 2023., 2023 Abstract Aim To determine the kinase activity profiles of human pancreatic beta cells downstream of glucagon‐like peptide‐1 receptor (GLP‐1R) balanced versus biased agonist stimulations. Materials and Methods This study analysed the kinomic profiles of human EndoC‐βh1 cells following vehicle and GLP‐1R stimulation with the pharmacological agonist ...
Jiannan Xiao +8 more
wiley +1 more source
Journal of Anatomy, Volume 243, Issue 2, Page 186-203, August 2023., 2023 Retinal organoids have become an exceedingly useful tool in recent years for understanding retinogenesis, particularly in the context of retinal disease. Pluripotent stem cells (PSCs) can be derived directly from somatic cells of affected patients, or alternatively, existing pluripotent lines can undergo gene editing to harbour mutations of interest ...
Avril Watson, Majlinda Lako
wiley +1 more source
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG
Acta Ophthalmologica, Volume 101, Issue 2, Page 215-221, March 2023., 2023 Abstract Purpose To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby‐like protein 1 (TULP1) gene. Methods A retrospective observational study of 16 IRD patients carrying a homozygous pathogenic TULP1 c.148delG variant.
Anna Majander +8 more
wiley +1 more source
The Journal of Physiology, Volume 600, Issue 21, Page 4585-4601, 1 November 2022., 2022 Abstract The detection of light in the vertebrate retina utilizes a duplex system of closely related rod and cone photoreceptors: cones respond extremely rapidly, and operate at ‘photopic’ levels of illumination, from moonlight upwards; rods respond much more slowly, thereby obtaining greater sensitivity, and function effectively only at ‘scotopic ...
Trevor D. Lamb
wiley +1 more source