Results 81 to 90 of about 62,604 (264)
Cytoskeleton, EarlyView.ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong +7 more
wiley +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 +3 more
wiley +1 more source
Journal of Lipid Research, 2010 Retinal degenerative diseases result in retinal pigment epithelial (RPE) and photoreceptor cell loss. These cells are continuously exposed to the environment (light) and to potentially pro-oxidative conditions, as the retina's oxygen consumption is very ...
Nicolas G. Bazan +2 more
doaj +1 more source
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 +6 more
wiley +1 more source
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Epilepsia, EarlyView.Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source
JCI InsightInherited retinal dystrophies (IRDs) are progressive diseases leading to vision loss. Mutation in the eyes shut homolog (EYS) gene is one of the most frequent causes of IRD.
Yuki Otsuka +20 more
doaj +1 more source
PLoS ONE, 2014 The precise regulation of numbers and types of neurons through control of cell cycle exit and terminal differentiation is an essential aspect of neurogenesis. The Hippo signaling pathway has recently been identified as playing a crucial role in promoting
Yoichi Asaoka +4 more
doaj +1 more source
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 +9 more
wiley +1 more source
FlexMat, EarlyView.A blue‐hazard‐free single‐emissive‐layer white OLED is realized using an anti‐quenching multiple‐resonance TADF emitter, BNCT. By integrating a sterically protected MR core with efficient energy transfer capability, BNCT enables warm‐white emission with high efficiency, negligible hazardous blue photons, and a simplified device architecture for next ...
Xiao‐Long Liu +9 more
wiley +1 more source
Cell Transplantation, 2001 The Royal College of Surgeons (RCS) rat is an animal model for retinal degeneration such as the age-related macular degeneration. The RCS rat undergoes a progressive retinal degeneration during the early postnatal period. A potential treatment to prevent
Ulrich Schraermeyer +8 more
doaj +1 more source