(Q34599860)

3 August 2017

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title

Retinal diseases linked with photoreceptor guanylate cyclase (English)

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3 August 2017

photoreceptor protein

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Karl-Wilhelm Koch

2

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author name string

Teresa Duda

series ordinal

1

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3 August 2017

1 January 2002

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Molecular and Cellular Biochemistry

3 August 2017

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3 August 2017

230

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3 August 2017

1-2

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3 August 2017

129-138

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https://scigraph.springernature.com/pub.10.1023/a:1014296124514

3 August 2017

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cites work

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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

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

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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12 December 2020

Purification and physiological evaluation of a guanylate cyclase activating protein from retinal rods

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Leber congenital amaurosis

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Visual function and gene analysis in a family with Oguchi's disease

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The concentration of cytosolic free calcium in vertebrate rod outer segments measured with fura-2.

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12 December 2020

Activation of retinal guanylyl cyclase-1 by Ca2+-binding proteins involves its dimerization

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12 December 2020

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

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12 December 2020

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

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12 December 2020

Amplification and kinetics of the activation steps in phototransduction

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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?

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12 December 2020

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

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12 December 2020

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

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Guanylyl cyclase activating protein. A calcium-sensitive regulator of phototransduction

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Mutation analysis of the ROM1 gene in retinitis pigmentosa.

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12 December 2020

A second calcium regulator of rod outer segment membrane guanylate cyclase, ROS-GC1: neurocalcin

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12 December 2020

S100B and S100A1 proteins in bovine retina:their calcium-dependent stimulation of a membrane-bound guanylate cyclase activity as investigated by ultracytochemistry

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Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene

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Cytoplasmic free calcium concentration in dark-adapted retinal rod outer segments.

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12 December 2020

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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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

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12 December 2020

Functional characterization of a guanylyl cyclase-activating protein from vertebrate rods. Cloning, heterologous expression, and localization

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12 December 2020

Clinical physiology of heritable photoreceptor diseases

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12 December 2020

Photoreceptor guanylate cyclases: a review

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12 December 2020

[Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis]

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12 December 2020

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

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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

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12 December 2020

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

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12 December 2020

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

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12 December 2020

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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Third calcium-modulated rod outer segment membrane guanylate cyclase transduction mechanism

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12 December 2020

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

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12 December 2020

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

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12 December 2020

Identification of genetic heterogeneity in Refsum's disease

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12 December 2020

Spectrum of retGC1 mutations in Leber's congenital amaurosis

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12 December 2020

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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12 December 2020

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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12 December 2020

A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

1 reference

12 December 2020

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations

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12 December 2020

Molecular characterization of S100A1-S100B protein in retina and its activation mechanism of bovine photoreceptor guanylate cyclase

1 reference

12 December 2020

Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina.

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

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Activation of bovine photoreceptor guanylate cyclase by S100 proteins

1 reference

12 December 2020

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin

1 reference

12 December 2020

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

1 reference

12 December 2020

Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula

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

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

1 reference

12 December 2020

A gene for Leber's congenital amaurosis maps to chromosome 17p

1 reference

12 December 2020

Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.

1 reference

12 December 2020

Calcium homeostasis in the outer segments of retinal rods from the tiger salamander

1 reference

12 December 2020

A novel calcium-dependent activator of retinal rod outer segment membrane guanylate cyclase

1 reference

12 December 2020

Impairment of the rod outer segment membrane guanylate cyclase dimerization in a cone-rod dystrophy results in defective calcium signaling.

1 reference

12 December 2020

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

1 reference

12 December 2020

Differential activation of rod outer segment membrane guanylate cyclases, ROS-GC1 and ROS-GC2, by CD-GCAP and identification of the signaling domain

1 reference

12 December 2020

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural and functional characterization of retinal calcium-dependent guanylate cyclase activator protein (CD-GCAP): identity with S100beta protein

1 reference

12 December 2020

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

1 reference

12 December 2020

Dimerization of guanylyl cyclase-activating protein and a mechanism of photoreceptor guanylyl cyclase activation.

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

Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis

1 reference

12 December 2020

Cloning, sequencing, and expression of a 24-kDa Ca(2+)-binding protein activating photoreceptor guanylyl cyclase.

1 reference

12 December 2020

Molecular mechanisms of vertebrate photoreceptor light adaptation

1 reference

12 December 2020

Retinitis pigmentosa. The Friedenwald Lecture

1 reference

12 December 2020

The bovine rod outer segment guanylate cyclase, ROS-GC, is present in both outer segment and synaptic layers of the retina

1 reference

12 December 2020

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

1 reference

12 December 2020

Rod outer segment membrane guanylate cyclase type 1 (ROS-GC1) gene: structure, organization and regulation by phorbol ester, a protein kinase C activator

1 reference

12 December 2020

Ca2+ dependence of dark- and light-adapted flash responses in rod photoreceptors

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

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator

1 reference

12 December 2020

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Phototransduction mechanism in retinal rods and cones. The Friedenwald Lecture.

1 reference

12 December 2020

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

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

Identifiers

DOI

10.1023/A:1014296124514

1 reference

PubMed ID

11952088

Dimensions Publication ID

3 August 2017

0 references

1 reference

PubMed ID

11952088