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Article

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

Human molecular genetics - 15 Apr 2002

Chen Shiming, Wang Qing-Liang, Xu Siqun, Liu Ivy, Li Lili Y, Wang Yufang, Zack Donald J

Abstract excerpt

Mutations in the photoreceptor transcription factor cone-rod homeobox (CRX) have been identified in patients with several forms of retinal degenerative disease. To investigate the mechanisms by which these mutations cause photoreceptor degeneration, CRX constructs representing eleven known mutations, as well as a set of C-terminal deletions, were generated and tested for their ability to activate a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11971869
DOI: 10.1093/hmg/11.8.873

Genes

CRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.PMID 11971869Read ↗

Functional Domains of the Cone-Rod Homeobox (CRX) Transcription FactorSemantic proximity Read ↗

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanismsSemantic proximity Read ↗

Mutational scanning of <i>CRX</i> classifies clinical variants and reveals biochemical properties of the transcriptional effector domainSemantic proximity Read ↗

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity Read ↗

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.Semantic proximity Read ↗

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

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanismsSemantic proximity Read ↗

Structural and functional analysis of the human Cone-rod homeobox transcription factorSemantic proximity Read ↗

Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX researchSemantic proximity Read ↗

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.Semantic proximity Read ↗

Functional dissection of the promoter of the interphotoreceptor retinoid-binding protein gene: the cone-rod-homeobox element is essential for photoreceptor-specific expression in vivo.Semantic proximity Read ↗

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.Semantic proximity Read ↗

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