Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R90W
Back to variants list

CRX

NM_000554.6:p.R90W

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

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

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

Leigh A et al.

Ophthalmic Genetics, 2025

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

Zheng Y et al.

Genome Research, 2025

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.

Hahn LC et al.

Ophthalmology. Retina, 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

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

Shepherdson JL et al.

Genome Research, 2024

Molecular basis of CRX/DNA recognition and stoichiometry at the Ret4 response element.

Srivastava D et al.

Structure (london, England : 1993), 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

Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors.

Shepherdson JL et al.

Genome Research, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants

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

Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.

Sahin I et al.

Cureus, 2024

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

Zheng Y et al.

Frontiers in Cellular Neuroscience, 2024

Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptors.

Shepherdson JL et al.

Biorxiv : the Preprint Server for Biology, 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

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.

Kim DG et al.

Genes, 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

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 786O

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

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

Kruczek K et al.

Stem Cell Reports, 2021

33513359 (PubMed )
Supplement: mmc4.pdf

Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.

Ng CC et al.

Ophthalmic Genetics, 2020

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

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Markitantova Y et al.

International Journal of Molecular Sciences, 2020

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

Yi Z et al.

Experimental Eye Research, 2019

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Joo K et al.

Molecular Vision, 2019

Crx-L253X Mutation Produces Dominant Photoreceptor Defects in TVRM65 Mice.

Ruzycki PA et al.

Investigative Ophthalmology & Visual Science, 2017

Available Evidence on Leber Congenital Amaurosis and Gene Therapy.

Alkharashi M et al.

Seminars in Ophthalmology, 2017

1–50 of 82 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."