Back to search

Article

Mutational scanning of <i>CRX</i> classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

2024-03-27

Abstract excerpt

Cone-Rod Homeobox, encoded by CRX , is a transcription factor (TF) essential for the terminal differentiation and maintenance of mammalian photoreceptors. Structurally, CRX comprises an ordered DNA-binding homeodomain and an intrinsically disordered transcriptional effector domain. Although a handful of human variants in CRX have been shown to cause several different degenerative retinopathies with varying cone...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
4ca5e0ec-c5e3-5dba-be3f-b2a50f9a3f9c
DOI
10.1101/2024.03.21.585809
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Mutational scanning of <i>CRX</i> classifies clinical variants and reveals biochemical properties of the transcriptional effector domainDOI 10.1101/2024.03.21.585809
Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.Semantic proximity
Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptorsSemantic proximity
Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX researchSemantic proximity
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.Semantic proximity
Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanismsSemantic proximity
Structural and functional analysis of the human Cone-rod homeobox transcription factorSemantic proximity
CRX directs photoreceptor differentiation by accelerating chromatin remodeling at specific target sitesSemantic proximity
Machine Learning Prediction of Non-Coding Variant Impact in Cell-Class-Specific Human Retinal <i>Cis</i> -Regulatory ElementsSemantic proximity
Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanismsSemantic proximity
Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal <i>Cis</i> -Regulatory ElementsSemantic proximity
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity
Multi-omics profiling, <i>in vitro</i> and <i>in vivo</i> enhancer assays dissect the <i>cis</i> -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathySemantic proximity
Select a neighboring publication to make it the new centre.