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

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

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 1998 (ast) vědecký článek publikovaný v roce 1998 (cs) наукова стаття, опублікована в лютому 1998 (uk) 1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած (hyw) 1998 թվականի փետրվարին հրատարակված գիտական հոդված (hy) مقالة علمية (نشرت في فبراير 1998) (ar) vedecký článok (publikovaný 1998/02/01) (sk) article scientifique publié en 1998 (fr) wetenschappelijk artikel (gepubliceerd op 1998/02/01) (nl) scientific journal article (en) im Februar 1998 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28118822-FE4452A4-8001-45D2-86F0-33DB990DA7BD
publication date	1998-02-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28118822-0FAFF471-25E0-4F86-9275-0570358348E7
language of work or name	English
author name string	wds:Q28118822-19BD6154-4797-4A0B-AA16-96A3E5AAA714 wds:Q28118822-58800CBF-6F61-430E-AF05-148FD291B896 wds:Q28118822-5B4554FE-C3D7-4456-9272-974208ADE696 wds:Q28118822-5C37C46B-240E-4402-8999-B1BF8DF4C112 wds:Q28118822-834E0388-21AB-42FE-A501-BFB3951A33A5 wds:Q28118822-96B127CD-158E-4CCD-962C-3860F59DC09F wds:Q28118822-BBF25EF8-3C15-41E5-833D-F85CF572749D wds:Q28118822-E38E603A-8399-42EA-82BE-4A08ECACD943
author name string	A. C. Bird R. Taylor A. M. Payne D. A. Bessant G. E. Holder M. J. Warren S. M. Downes S. S. Bhattacharya
rdfs:label	A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (en) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (nl) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (ast)
skos:prefLabel	A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (en) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (nl) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (ast)
name	A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (en) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (nl) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (ast)
title	wds:Q28118822-1F33D32F-90C7-4538-96B0-C638EDC6778E
title	A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 (en)
page(s)	wds:Q28118822-3B43B62A-1399-48CA-B1D1-274ACD213475
page(s)	273–277
instance of	wds:Q28118822-6B754E6B-700C-4811-8CFB-08803845F672
instance of	scholarly article
main subject	wds:Q28118822-A126E1B6-70CE-4E3A-9BD0-C862E949B8FD
main subject	cone dystrophy
PubMed ID	wds:Q28118822-D0DAB225-3043-4967-8E75-F94EC5A039A0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9425234
PubMed ID	9425234
published in	wds:Q28118822-AEA20BA2-BEC4-4C34-89B6-7371F5608E06
published in	Human Molecular Genetics
issue	wds:Q28118822-1D42168D-6F28-40A5-9DA2-F71F802A0DC4
volume	wds:Q28118822-E4425E70-A837-4D79-8A13-E1BA7DFF5355
issue	2
volume	7
DOI	wds:Q28118822-680F220A-0468-4F03-80C3-C60A470CA17F
DOI	http://dx.doi.org/10.1093/HMG/7.2.273
DOI	10.1093/HMG/7.2.273
Fatcat ID	wds:Q28118822-24CAB34E-9C40-4E7F-8106-A288603DFCE6
Fatcat ID	release_ycu2rtqderhbtan67drgtjnq2a
ResearchGate publication ID	wds:Q28118822-D5A1C5B2-7BBA-4D4D-A412-21102B5D3962
ResearchGate publication ID	13805549
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28118822
is cites work of	Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice Stabilizing Function for Myristoyl Group Revealed by the Crystal Structure of a Neuronal Calcium Sensor, Guanylate Cyclase-Activating Protein 1 Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice. Evaluation of the contributions of recoverin and GCAPs to rod photoreceptor light adaptation and recovery to the dark state Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily Three-dimensional structure of guanylyl cyclase activating protein-2, a calcium-sensitive modulator of photoreceptor guanylyl cyclases Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis Matrix metalloproteinase-9 and -2 enhance the ligand sensitivity of photoreceptor cyclic nucleotide-gated channels Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease The cone dystrophies Structural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1. Structure of a Ca2+-myristoyl switch protein that controls activation of a phosphatidylinositol 4-kinase in fission yeast Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. Photoreceptor cell death mechanisms in inherited retinal degeneration. Inherited diseases of photoreceptors and prospects for gene therapy. Neuronal calcium sensor proteins: generating diversity in neuronal Ca2+ signalling Ca(2+)-binding proteins in the retina: structure, function, and the etiology of human visual diseases A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

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