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
Notch signaling represses cone photoreceptor formation through the regulation of retinal progenitor cell states [PDF]
, 2020 Xueqing Chen, Mark M. Emerson
openalex +1 more source
Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells. [PDF]
, 2018 The production of vertebrate retinal projection neurons, retinal ganglion cells (RGCs), is regulated by cell-intrinsic determinants and cell-to-cell signaling events.
Hashimoto, Takao +3 more
core +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
Inhibition of the MAPK/c-Jun-EGR1 Pathway Decreases Photoreceptor Cell Death in the rd1 Mouse Model for Inherited Retinal Degeneration [PDF]
, 2022 Yujie Dong +7 more
openalex +1 more source
The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic [PDF]
, 2012 Purpose. To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations. Methods. Eleven subjects were recruited, eight of whom have been previously described.
Banin, Eyal +19 more
core +2 more sources
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
Photo-damage, photo-protection and age-related macular degeneration [PDF]
, 2015 Age-related macular degeneration (AMD) is a degenerative retinal disease that causes blindness in people 60-65 years and older, with the highest prevalence appearing in people 90 years-old or more.
Marquioni Ramella, Melisa Daniela +1 more
core +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
HDAC6 inhibition by tubastatin A is protective against oxidative stress in a photoreceptor cell line and restores visual function in a zebrafish model of inherited blindness [PDF]
, 2017 Janina Leyk +4 more
openalex +1 more source