Associated Papers
Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.
Massengill MT et al.
Genes, 2026
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.
Banjak M et al.
Bmj Open Ophthalmology, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Molecular basis of CRX/DNA recognition and stoichiometry at the Ret4 response element.
Srivastava D et al.
Structure (london, England : 1993), 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG et al.
Genes, 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
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D et al.
Molecular Vision, 2020
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy.
Chapi M et al.
Ophthalmic Genetics, 2019
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Joo K et al.
Molecular Vision, 2019
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.
Nash BM et al.
Translational Pediatrics, 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 siblings with late-onset cone-rod dystrophy and no visible macular degeneration.
Sakuramoto H et al.
Clinical Ophthalmology (auckland, N.z.), 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
CRX variants in cone-rod dystrophy and mutation overview.
Huang L et al.
Biochemical and Biophysical Research Communications, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision, 2012
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Nichols LL et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Paunescu K et al.
Ophthalmology, 2007
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
Peng GH et al.
Human Molecular Genetics, 2005
Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
Itabashi T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2003
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
Wang X et al.
The Journal of Biological Chemistry, 2002
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Chen S et al.
Human Molecular Genetics, 2002
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C et al.
Human Mutation, 2001
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
Rivolta C et al.
Human Mutation, 2001
Functional domains of the cone-rod homeobox (CRX) transcription factor.
Chau KY et al.
The Journal of Biological Chemistry, 2000
Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.
Tzekov RT et al.
Ophthalmic Genetics, 2000
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM et al.
American Journal of Human Genetics, 1998
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.
Freund CL et al.
Nature Genetics, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Swain PK et al.
Neuron, 1997