(Q34353825)

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Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mitsuru Nakazawa

2

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Mitsuru Nakazawa

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Motoya Sato

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Tomoaki Usui

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Naoyuki Tanimoto

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Haruki Abe

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Hiroshi Ohguro

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

28 September 2004

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Graefe's Archive for Clinical and Experimental Ophthalmology

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

243

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

235-242

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

https://scigraph.springernature.com/pub.10.1007/s00417-004-1015-7

0 references

GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detailed localization of photoreceptor guanylate cyclase activating protein-1 and -2 in mammalian retinas using light and electron microscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The localization of guanylyl cyclase-activating proteins in the mammalian retina

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of photoreceptor membrane guanylyl cyclases by guanylyl cyclase activator proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15452722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00417-004-1015-7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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