Associated Papers
Low population penetrance of variants associated with inherited retinal degenerations.
Zaslavsky K et al.
American Journal of Human Genetics, 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
41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M et al.
Genes, 2023
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018
30543658 (PubMed )
Supplement: pone.0207958.s002.docx
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
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
Coppieters F et al.
American Journal of Human Genetics, 2007
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
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
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