Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. - Wikidata - wikimedia - TriplyDB

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.

http://www.wikidata.org/entity/Q33862495

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EnRICH: Extraction and Ranking using Integration and Criteria Heuristics RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.EF hand-mediated Ca- and cGMP-signaling in photoreceptor synaptic terminals.RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.Molecular Physiology of Membrane Guanylyl Cyclase Receptors.Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

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Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.

http://www.wikidata.org/entity/Q33862495

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2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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JOURNAL.PONE.0018089

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David M Hunt

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Emma L West

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Marija Mihelec

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Michel Michaelides

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Phillippa Cottrill

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Prateek K Buch

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Robin R Ali

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Susan E Wilkie

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Yanai Duran

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P2860

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

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

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

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

Localization of guanylate cyclase-activating protein 2 in mammalian retinas

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

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

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

Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina

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

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Rachael A. Pearson

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