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Retinal cone dystrophy 2

Known as: RCD2, Cone degeneration, autosomal dominant progressive, Cone-Rod Dystrophy 6 
National Institutes of Health

Related topics

Related topics

3 relations
GUCY2D, ARG838HISGUCY2D, ILE949THR

Broader (1)

Retinitis Pigmentosa

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.
Mutations in GUCY2D, the gene encoding retinal guanylate cyclase-1 (retGC1), are the leading cause of autosomal dominant cone-rod… 
2018
2018
GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1
The Arg838Ser mutation in retinal membrane guanylyl cyclase 1 (RetGC1) has been linked to autosomal dominant cone–rod dystrophy… 
Review
2016
Review
2016
Refractory celiac disease
ABSTRACT Refractory celiac disease (RCD) affects patients who have failed to heal after 6–12 months of a strict gluten-free diet… 
Review
2015
Review
2015
Complications of coeliac disease.
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
2000
Review
2000
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
1999
1999
Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling.
Rod outer segment guanylate cyclase 1 (ROS-GC1) is a member of the subfamily of Ca(2+)-regulated membrane guanylate cyclases; and… 
Highly Cited
1998
Highly Cited
1998
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The… 
Highly Cited
1997
Highly Cited
1997
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy. Significant linkage to… 
1972
1972
De novo formation of synapses in cultures of chick neural tube.
THE presence of synapses in long term organ cultures of mammalian and avian nervous tissue has been demonstrated previously by… 
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