Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.E80A
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CRX

NM_000554.6:p.E80A

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

The ALX4 dimer structure provides insight into how disease alleles impact function.

Cain B et al.

Nature Communications, 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

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

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

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

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

Yi Z et al.

Experimental Eye Research, 2019

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

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

22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf

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

Nichols LL et al.

Human Mutation, 2010

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K et al.

Ophthalmology, 2007

Molecular analysis of a human PAX6 homeobox mutant.

D'Elia AV et al.

European Journal of Human Genetics : Ejhg, 2006

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

Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.

Chen S et al.

Human Molecular Genetics, 2004

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

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

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM 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

Nuclear trafficking of photoreceptor protein crx: the targeting sequence and pathologic implications.

Fei Y et al.

Investigative Ophthalmology & Visual Science, 2000

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Perrault I et al.

American Journal of Human Genetics, 1998

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A et al.

Cell, 1998

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

Freund CL et al.

Nature Genetics, 1998

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

Freund CL et al.

Cell, 1997

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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."