Publications by authors named "Emma C Lord"
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all FEVR-affected case subjects do not harbor mutations in these genes, indicating that further mutated genes remain to be identified.
View Article and Find Full Text PDFArticle Synopsis
- Albinism is a group of disorders with reduced pigmentation, affecting the eyes and skin, and can sometimes present normally in hair and skin, specifically in ocular albinism linked to mutations in GPR143.
- The study involved female carriers of GPR143 mutations, with advanced retinal imaging techniques used to explore retinal features and confirm atypical cases.
- Findings revealed a novel mutation in one family, with signs of reduced foveal autofluorescence and a unique "tapetal-like" pattern at the macula in some patients, indicating retinal pigment changes in female carriers.
Class IIa histone deacetylases (HDACs) regulate the activity of many transcription factors to influence liver gluconeogenesis and the development of specialized cells, including muscle, neurons, and lymphocytes. Here, we describe a conserved role for class IIa HDACs in sustaining robust circadian behavioral rhythms in Drosophila and cellular rhythms in mammalian cells. In mouse fibroblasts, overexpression of HDAC5 severely disrupts transcriptional rhythms of core clock genes.
View Article and Find Full Text PDF