Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.K88N
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CRX

NM_000554.6:p.K88N

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Cone Rod Homeobox (CRX): literature review and new insights.

Leigh A et al.

Ophthalmic Genetics, 2025

Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.

Banjak M et al.

Bmj Open Ophthalmology, 2025

Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominant CRX retinopathy models.

Zheng Y et al.

Genome Research, 2025

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.

Lee YJ et al.

Stem Cell Reviews and Reports, 2025

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Shepherdson JL et al.

Genome Research, 2024

Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.

Liu Y et al.

Biomolecules, 2024

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Shepherdson JL et al.

Biorxiv : the Preprint Server for Biology, 2024

Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominant CRX retinopathy models.

Zheng Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Transcriptional precision in photoreceptor development and diseases - Lessons from 25 years of CRX research.

Zheng Y et al.

Frontiers in Cellular Neuroscience, 2024

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.

Zheng Y et al.

Elife, 2023

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.

Zheng Y et al.

Biorxiv : the Preprint Server for Biology, 2023

Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.

Sun C et al.

Frontiers in Molecular Neuroscience, 2023

Gene Augmentation for Autosomal Dominant CRX-Associated Retinopathies.

Sun C et al.

Advances in Experimental Medicine and Biology, 2023

Retinal Organoids: A Human Model System for Development, Diseases, and Therapies.

Kandoi S et al.

Advances in Experimental Medicine and Biology, 2023

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

Cui H et al.

International Journal of Ophthalmology, 2022

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.

Chirco KR et al.

Stem Cell Reports, 2021

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.

Kruczek K et al.

Stem Cell Reports, 2021

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Fujinami-Yokokawa Y et al.

Scientific Reports, 2020

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Arcot Sadagopan K et al.

Ophthalmic Genetics, 2015

Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Tran NM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S et al.

Investigative Ophthalmology & Visual Science, 2014

Mechanistically distinct mouse models for CRX-associated retinopathy.

Tran NM et al.

Plos Genetics, 2014

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Nichols LL et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."