Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis
The cone and cone–rod dystrophies form part of a heterogeneous group of retinal disorders
that are an important cause of visual impairment in children and adults. There have been …
that are an important cause of visual impairment in children and adults. There have been …
Proteoglycans in retina
M Inatani, H Tanihara - Progress in retinal and eye research, 2002 - Elsevier
In this article, we summarize the roles of proteoglycans in retinal tissue. Chondroitin sulfate
and heparan sulfate proteoglycans are the major constituents in proteoglycans expressed in …
and heparan sulfate proteoglycans are the major constituents in proteoglycans expressed in …
[HTML][HTML] A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family
AO Edwards, LA Donoso, R Ritter - … ophthalmology & visual …, 2001 - tvst.arvojournals.org
purpose. To describe a novel gene causing a Stargardt-like phenotype in a family with
dominant macular dystrophy and the exclusion of all known genes within the disease locus …
dominant macular dystrophy and the exclusion of all known genes within the disease locus …
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
METHODS Conventional chromosome analysis was performed from cultivated peripheral
blood cells after GTG and CBG banding at a 550-850 band level10 according to standard …
blood cells after GTG and CBG banding at a 550-850 band level10 according to standard …
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
S Mechaussier, B Almoallem, C Zeitz… - The American Journal of …, 2020 - cell.com
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital
stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) …
stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) …
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
S Johnson, S Halford, AG Morris, RJ Patel, SE Wilkie… - Genomics, 2003 - Elsevier
A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7,
an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A …
an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A …
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1
Objective To describe the phenotype in 3 families with dominantly inherited cone and cone-
rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene …
rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene …
Autosomal dominant cone–rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase
OBJECTIVE: To describe the clinical features of autosomal dominant cone–rod retinal
dystrophy (CRD) in a British family map** to chromosome 17p12-p13 (CORD6), with a …
dystrophy (CRD) in a British family map** to chromosome 17p12-p13 (CORD6), with a …
GABAC receptors: a molecular view
R Enz - 2001 - degruyter.com
In the central nervous system inhibitory neurotransmission is primarily achieved through
activation of receptors for γaminobutyric acid (GABA). Three types of GABA receptors have …
activation of receptors for γaminobutyric acid (GABA). Three types of GABA receptors have …
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes
Objective The goal of this study was to identify mutations in 25 known causative genes in 47
unrelated Chinese families with cone-rod dystrophy (CORD). Methods Forty-seven …
unrelated Chinese families with cone-rod dystrophy (CORD). Methods Forty-seven …