(Q34465814)

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Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

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Europe PubMed Central

PubMed publication ID

2 August 2017

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Europe PubMed Central

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

congenital disorder

0 references

Leber congenital amaurosis

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author name string

Rivolta C

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Berson EL

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Dryja TP

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

1 December 2001

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

488-498

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Functional domains of the cone-rod homeobox (CRX) transcription factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutations in the CRB1 gene cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Immediate upstream sequence of arrestin directs rod-specific expression in Xenopus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Molecular cloning of the cone-rod homeobox gene (Crx) from the rat and its temporal expression pattern in the retina under a daily light-dark cycle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

21 January 2018

Retinal Aplasia as a Clinical Entity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1226

7 January 2021

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Identifiers

10.1002/HUMU.1226

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

release_4odamef7tzhp7muexf7uoyaugy

1 reference

https://api.fatcat.wiki/v0/release/4odamef7tzhp7muexf7uoyaugy

24 November 2022

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mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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