A5091153685- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Photochromic and Fluorescence Chemistry
- Hormonal Regulation and Hypertension
- Pluripotent Stem Cells Research
- Adrenal Hormones and Disorders
- Stress Responses and Cortisol
- Retinal Imaging and Analysis
- RNA regulation and disease
- Calcium signaling and nucleotide metabolism
- Developmental Biology and Gene Regulation
National Institutes of Health
2012-2021
National Institute of Mental Health
2020
Cleveland Clinic Lerner College of Medicine
2020
Case Western Reserve University
2020
National Eye Institute
2014-2016
National Institute of Neurological Disorders and Stroke
2012
The separation of the optic neuroepithelium into future retina and retinal pigment epithelium (RPE) is a critical event in early eye development vertebrates. Here we show mice that transcription factor PAX6, well-known for its retina-promoting activity, also plays crucial role development. This seen, however, only background genetically sensitized by mutations cell MITF. In fact, reduction Pax6 gene dose exacerbates RPE-to-retina transdifferentiation seen embryos homozygous an Mitf null...
Abstract Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder caused by a missense substitution in CTRP5 . Distinctive clinical features include sub-retinal pigment epithelium (RPE) deposits, choroidal neovascularization, and RPE atrophy. In induced pluripotent stem cells-derived from L-ORD patients (L-ORD-iRPE), we show that the pathogenic variant leads to reduced secretion. silico modeling suggests lower binding of mutant adiponectin receptor 1 (ADIPOR1). Downstream...