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

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

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

http://www.wikidata.org/entity/Q24548026

about

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)The pharmacology of cyclic nucleotide-gated channels: emerging from the darkness A calcium-relay mechanism in vertebrate phototransduction Two structural motifs within canonical EF-hand calcium-binding domains identify five different classes of calcium buffers and sensors.Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the dark Conformational changes in guanylate cyclase-activating protein 1 induced by Ca2+ and N-terminal fatty acid acylation.Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.Cyclic nucleotide-gated channel block by hydrolysis-resistant tetracaine derivatives Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity Types and effects of protein variations.Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis Activation and inhibition of photoreceptor guanylyl cyclase by guanylyl cyclase activating protein 1 (GCAP-1): the functional role of Mg2+/Ca2+ exchange in EF-hand domains A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.Ca2+ -dependent regulation of phototransduction Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene GCAP1 mutations associated with autosomal dominant cone dystrophy RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.Halogen substituents on the aromatic moiety of the tetracaine scaffold improve potency of cyclic nucleotide-gated channel block.Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.Bright flash response recovery of mammalian rods in vivo is rate limited by RGS9 Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.Differential modification of phosducin protein in degenerating rd1 retina is associated with constitutively active Ca2+/calmodulin kinase II in rod outer segments.Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina.Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

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P2860

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

http://www.wikidata.org/entity/Q24548026

description

2004 nî lūn-bûn

@nan

2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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type

label

A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

@en

A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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prefLabel

A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

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Investigative Ophthalmology & Visual Science

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A novel mutation (I143NT) in g ...... mal dominant cone degeneration

@en

P2093

Eliot L Berson

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Izabela Sokal

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Koji M Nishiguchi

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Lili Yang

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Nirmalya Roychowdhury

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Thaddeus P Dryja

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Wolfgang Baehr

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P2860

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

Genetic basis of total colourblindness among the Pingelapese islanders

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

Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene

CNGA3 mutations in hereditary cone photoreceptor disorders

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

Localization of guanylate cyclase-activating protein 2 in mammalian retinas

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

Three-dimensional structure of guanylyl cyclase activating protein-2, a calcium-sensitive modulator of photoreceptor guanylyl cyclases

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

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3863-70

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scholarly article

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2773752

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10.1167/IOVS.04-0590

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11

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45

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Krzysztof Palczewski

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2004-11-01T00:00:00Z

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8212262

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15505030

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1475955

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