(Q24539435)

6 July 2017

title

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

1 reference

6 July 2017

main subject

photoreceptor protein

0 references

1 reference

D Birch

4

0 references

Stephen P. Daiger

8

object named as

S P Daiger

1 reference

6 July 2017

M M Sohocki

1

1 reference

6 July 2017

L S Sullivan

2

1 reference

6 July 2017

H A Mintz-Hittner

3

1 reference

6 July 2017

J R Heckenlively

5

1 reference

6 July 2017

C L Freund

6

1 reference

6 July 2017

R R McInnes

7

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

63

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6 July 2017

issue

5

1 reference

6 July 2017

page(s)

1307-1315

1 reference

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

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

From fly head to mammalian forebrain: the story of otd and Otx.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

Dominant cone-rod dystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377541

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

29 November 2018

1 reference

12 December 2020

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

12 December 2020

Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/302101

1 reference

release_7yfqc5i7rfc3bkddtxgeexonwm

6 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

3007735

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference