(Q37639201)

21 August 2017

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title

Guanylate cyclases and associated activator proteins in retinal disease (English)

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21 August 2017

David M Hunt

1

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21 August 2017

Prateek Buch

series ordinal

2

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21 August 2017

Michel Michaelides

series ordinal

3

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21 August 2017

language of work or name

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26 November 2009

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Molecular and Cellular Biochemistry

21 August 2017

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21 August 2017

334

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21 August 2017

1-2

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21 August 2017

157-168

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https://scigraph.springernature.com/pub.10.1007/s11010-009-0331-y

21 August 2017

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cites work

Structural and functional characterization of the rod outer segment membrane guanylate cyclase

1 reference

https://api.crossref.org/works/10.1007%2FS11010-009-0331-Y

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11010-009-0331-Y

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11010-009-0331-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11010-009-0331-Y

Ca2+-dependent conformational changes in bovine GCAP-2.

21 January 2018

1 reference

12 December 2020

The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors

1 reference

12 December 2020

Calcium binding, but not a calcium-myristoyl switch, controls the ability of guanylyl cyclase-activating protein GCAP-2 to regulate photoreceptor guanylyl cyclase

1 reference

12 December 2020

Two membrane forms of guanylyl cyclase found in the eye

1 reference

12 December 2020

Rod outer segment membrane guanylate cyclase type 1-linked stimulatory and inhibitory calcium signaling systems in the pineal gland: biochemical, molecular, and immunohistochemical evidence

1 reference

12 December 2020

GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice

1 reference

12 December 2020

Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2.

1 reference

12 December 2020

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

1 reference

12 December 2020

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers

1 reference

12 December 2020

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors

1 reference

12 December 2020

Structural and functional characterization of a second subfamily member of the calcium-modulated bovine rod outer segment membrane guanylate cyclase, ROS-GC2.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Instead of binding calcium, one of the EF-hand structures in guanylyl cyclase activating protein-2 is required for targeting photoreceptor guanylyl cyclase

1 reference

12 December 2020

The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies

1 reference

12 December 2020

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

1 reference

12 December 2020

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12 December 2020

Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling

1 reference

12 December 2020

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

1 reference

12 December 2020

Photoreceptor guanylate cyclases: a review

1 reference

12 December 2020

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

1 reference

12 December 2020

Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice

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12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

1 reference

12 December 2020

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

1 reference

12 December 2020

Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

12 December 2020

Expression of membrane-bound and cytosolic guanylyl cyclases in the rat inner ear.

1 reference

12 December 2020

A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice

1 reference

12 December 2020

Spectrum of retGC1 mutations in Leber's congenital amaurosis

1 reference

12 December 2020

Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1.

1 reference

12 December 2020

Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG

1 reference

12 December 2020

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis

1 reference

12 December 2020

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)

1 reference

12 December 2020

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy

1 reference

12 December 2020

Retinal diseases linked with photoreceptor guanylate cyclase

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

1 reference

12 December 2020

Identification of proximate regions in a complex of retinal guanylyl cyclase 1 and guanylyl cyclase-activating protein-1 by a novel mass spectrometry-based method

1 reference

12 December 2020

Calcium modulation of bovine photoreceptor guanylate cyclase

1 reference

12 December 2020

Identification of a guanylyl cyclase-activating protein-binding site within the catalytic domain of retinal guanylyl cyclase 1.

1 reference

12 December 2020

Guanylate cyclase-activating proteins: structure, function, and diversity

1 reference

12 December 2020

Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.

1 reference

12 December 2020

Domain-specific stabilization of photoreceptor membrane guanylyl cyclase by adenine nucleotides and guanylyl cyclase activating proteins (GCAPs)

1 reference

12 December 2020

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

1 reference

12 December 2020

The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2.

1 reference

12 December 2020

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)

1 reference

12 December 2020

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man.

1 reference

12 December 2020

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Expression of rhodopsin promoter transgene product in both rods and cones

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12 December 2020

Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

1 reference

12 December 2020

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

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12 December 2020

Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity

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12 December 2020

rd and rc chickens carry the same GC1 null allele (GUCY1*)

1 reference

12 December 2020

Regulation of photoreceptor membrane guanylyl cyclases by guanylyl cyclase activator proteins

1 reference

12 December 2020

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

12 December 2020

Leber congenital amaurosis: from darkness to spotlight

1 reference

12 December 2020

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration

1 reference

12 December 2020

An overview of Leber congenital amaurosis: a model to understand human retinal development

1 reference

12 December 2020

A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype

1 reference

12 December 2020

Stabilizing Function for Myristoyl Group Revealed by the Crystal Structure of a Neuronal Calcium Sensor, Guanylate Cyclase-Activating Protein 1

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients

1 reference

12 December 2020

Regions in vertebrate photoreceptor guanylyl cyclase ROS-GC1 involved in Ca(2+)-dependent regulation by guanylyl cyclase-activating protein GCAP-1.

1 reference

12 December 2020

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy

1 reference

12 December 2020

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy

1 reference

12 December 2020

Localization of guanylate cyclase-activating protein 2 in mammalian retinas

1 reference

12 December 2020

Diversity of guanylate cyclase-activating proteins (GCAPs) in teleost fish: characterization of three novel GCAPs (GCAP4, GCAP5, GCAP7) from zebrafish (Danio rerio) and prediction of eight GCAPs (GCAP1-8) in pufferfish (Fugu rubripes).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice.

1 reference

12 December 2020

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

1 reference

12 December 2020

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

1 reference

12 December 2020

GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells

1 reference

12 December 2020

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.

1 reference

12 December 2020

10.1007/S11010-009-0331-Y

Identifiers

DOI

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21 August 2017

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