Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental eye research"
DOI: 10.1016/j.exer.2019.107846
Abstract: The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved, with limited polymorphisms in coding regions. Rare variants in CRX are usually considered causative for different forms of… read more here.
Keywords: crx variants; genotype phenotype; analysis; crx ... See more keywords
Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101478
Abstract: We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a missense mutation, c.121C > T, in the CRX gene. Patient fibroblasts were… read more here.
Keywords: line; crx; autosomal dominant; dominant cone ... See more keywords
Intrinsic ferromagnetism with high temperature, strong anisotropy and controllable magnetization in the CrX (X = P, As) monolayer.
Sign Up to like & getrecommendations! Published in 2020 at "Nanoscale"
DOI: 10.1039/c9nr10322h
Abstract: 2D ferromagnetic (FM) materials with high temperature, large magnetocrystalline anisotropic energy (MAE), and controllable magnetization are highly desirable for novel nanoscale spintronic applications. Herein by using DFT and Monte Carlo simulations, we demonstrate the possibility… read more here.
Keywords: temperature; high temperature; crx; controllable magnetization ... See more keywords
A novel dominant CRX mutation causes adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1373831
Abstract: ABSTRACT Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX)… read more here.
Keywords: onset macular; adult onset; dystrophy; crx ... See more keywords
Of eyes and embryos: subfunctionalization of the CRX homeobox gene in mammalian evolution
Sign Up to like & getrecommendations! Published in 2019 at "Proceedings of the Royal Society B: Biological Sciences"
DOI: 10.1098/rspb.2019.0830
Abstract: ETCHbox genes are fast-evolving homeobox genes present only in eutherian (placental) mammals which originated by duplication and divergence from a conserved homeobox gene, Cone-rod homeobox (CRX). While expression and function of CRX are restricted to… read more here.
Keywords: subfunctionalization; crx; homeobox gene; etchbox genes ... See more keywords
Crx Is Posttranscriptionally Regulated by Light Stimulation in Postnatal Rat Retina
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2020.00174
Abstract: Cone rod homeobox (Crx) plays a key role at the center of a regulatory network that coordinates many pathways in the retina. Its abnormal expression induces retinal disorders. However, the underlying regulatory mechanism of Crx… read more here.
Keywords: postnatal rat; protein; crx mrna; crx ... See more keywords