(Q41873980)

English

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

scientific article published on 29 April 2011

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31 January 2020

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies (English)

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31 January 2020

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Maria Garcia-Hoyos

1

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31 January 2020

Carmen Laura Auz-Alexandre

2

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31 January 2020

Berta Almoguera

3

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31 January 2020

Diego Cantalapiedra

4

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31 January 2020

Rosa Riveiro-Alvarez

5

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31 January 2020

Miguel Angel Lopez-Martinez

6

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31 January 2020

Ascension Gimenez

7

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31 January 2020

Fiona Blanco-Kelly

8

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31 January 2020

Almudena Avila-Fernandez

9

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31 January 2020

Maria Jose Trujillo-Tiebas

10

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31 January 2020

Blanca Garcia-Sandoval

11

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31 January 2020

Carmen Ramos

12

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31 January 2020

Carmen Ayuso

13

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31 January 2020

publication date

29 April 2011

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31 January 2020

Molecular Vision

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31 January 2020

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31 January 2020

1103-1109

1 reference

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31 January 2020

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

RNA interference-mediated suppression and replacement of human rhodopsin in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Cone rod dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Potential applications for RNAi to probe pathogenesis and develop new treatments for ocular disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Clinical subtypes of cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Cone and cone-rod dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

5 June 2018

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087450

18 August 2018

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone-Rod Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

1 reference

https://pubmed.ncbi.nlm.nih.gov/21552474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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31 January 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552474%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

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