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GUCY2D gene

Known as: GUANYLATE CYCLASE 2D, MEMBRANE, RETGC-1, GUANYLATE CYCLASE 2D, RETINAL 
National Institutes of Health

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2 relations
Gucy2d protein, mouseLeber Congenital Amaurosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to… 
2013
2013
Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
Background Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far… 
2010
2010
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.
Retinal membrane guanylyl cyclase (RetGC) and Ca(2+)/Mg(2+) sensor proteins (GCAPs) control the recovery of the photoresponse in… 
2009
2009
A tomato ER-type Ca2+-ATPase, LCA1, has a low thapsigargin-sensitivity and can transport manganese.
2008
2008
New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
OBJECTIVES To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone… 
2006
2006
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.
PURPOSE To report a novel mutation in the GUCY2D gene in a Japanese family with autosomal dominant cone-rod dystrophy (adCORD… 
2005
2005
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype
Patients carrying mutations in the retinal guanylate cyclase (GUCY2D) gene were reported to be constantly affected with a… 
2003
2003
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has… 
Review
1999
Review
1999
Regulation of photoreceptor membrane guanylyl cyclases by guanylyl cyclase activator proteins.
Guanylyl cyclase (GC) plays a central role in the responses of vertebrate rod and cone photoreceptors to light. cGMP is an… 
Highly Cited
1999
Highly Cited
1999
Mapping Sites in Guanylyl Cyclase Activating Protein-1 Required for Regulation of Photoreceptor Membrane Guanylyl Cyclases*
Guanylyl cyclase activating protein (GCAP)-1 regulates photoreceptor membrane guanylyl cyclase, RetGC, in a Ca2+-sensitive manner… 
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