Results 71 to 80 of about 8,879 (266)

Diacylglycerol O-acyltransferase type-1 synthesizes retinyl esters in the retina and retinal pigment epithelium.

PLoS ONE, 2015
Retinyl esters represent an insoluble storage form of vitamin A and are substrates for the retinoid isomerase (Rpe65) in cells of the retinal pigment epithelium (RPE).
Joanna J Kaylor, Roxana A Radu, Nicholas Bischoff, Jacob Makshanoff, Jane Hu, Marcia Lloyd, Shannan Eddington, Tran Bianconi, Dean Bok, Gabriel H Travis   +9 more
doaj   +1 more source

Bilateral conjunctival melanocytosis and retinitis pigmentosa

Journal of Clinical Ophthalmology and Research, 2019
Conjunctival pigmented lesions have varied appearances. It arises from the melanocytic or nonmelanocytes. It is rare to find conjunctival melanocytosis associated with retinal pigmentary dystrophy.
Rajesh Subhash Joshi, Iqbal Zarir Hussain Bombaywala   +1 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Chlorophyll-Derivative Modulation of Rhodopsin Signaling Properties through Evolutionarily Conserved Interaction Pathways

Frontiers in Molecular Biosciences, 2017
Retinal is the light-absorbing chromophore that is responsible for the activation of visual pigments and light-driven ion pumps. Evolutionary changes in the intermolecular interactions of the retinal with specific amino acids allow for adaptation of the ...
Kristina N. Woods, Jürgen Pfeffer, Judith Klein-Seetharaman   +2 more
doaj   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +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, Guanran Zhang, Jiayu Xu, Shuyang Chen, Yanrong Li, Xiaodong Sun, Yanlin Qu, Huixun Jia   +7 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

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, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

Environmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz, Melanie Blanc‐Legendre, Maximilian Rinderknecht, Laura Behnstedt, Sara Coordes, Luisa Reger, Sacha Sire, Xavier Cousin, Thomas Braunbeck, Lisa Baumann   +9 more
wiley   +1 more source

Tattoo-Associated Uveitis: A Case Series Highlighting Diverse Clinical Presentations and Therapeutic Challenges

Case Reports in Ophthalmological Medicine
Tattoo-associated uveitis is a rare inflammatory condition linked to tattooed skin, often presenting as bilateral anterior uveitis with complications such as macular edema and retinal vasculitis.
Sara Isabel Ospina Londoño, Daniela Isabel Agudelo Correa, Yissel Arango Arroyave   +2 more
doaj   +1 more source

Berberine alleviates pyroptosis of retinal ganglion cells in diabetic retinopathy by regulating AKT1, JUN, and STAT3

Ibrain, EarlyView.
Berberine alleviates diabetic retinopathy by reducing pyroptosis through AKT1/JUN/STAT3 regulation, as validated in rat models via network pharmacology, molecular docking, and experimental assays. Abstract Berberine (BBR) exerts an effective protection for diabetic retinopathy (DR), but the underlying key molecular mechanism remains unknown; this study
Na Li, Ji‐Lin Chen, Yi‐Jian Sun, Jia‐Fan Sun, Fatin Athirah Pauzi, Song‐Lin Zhu, Amy Yi Hsan Saik, Alan Han‐Kiat Ong   +7 more
wiley   +1 more source