Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
about
Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunitCompound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaRestoration of cone vision in a mouse model of achromatopsiaGenomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for XenarthraAAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsiaA Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.A prospective longitudinal study of retinal structure and function in achromatopsia.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthEarly-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapyHomozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channelsCNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.Achromatopsia caused by novel missense mutations in the CNGA3 gene.CNGA3 mutations in two United Arab Emirates families with achromatopsia.The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural FlexibilityDisease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.Molecular genetics of infantile-onset retinal dystrophies.In vivo imaging of the photoreceptor mosaic of a rod monochromatRod and rod-driven function in achromatopsia and blue cone monochromatism.Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.Retinal structure and function in achromatopsia: implications for gene therapy.Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Correction of Monogenic and Common Retinal Disorders with Gene Therapy.Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.Novel CNGA3 mutations in Chinese patients with achromatopsia.Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).The cone dysfunction syndromes.Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
P2860
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P2860
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@ast
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@en
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@nl
type
label
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@ast
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@en
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@nl
prefLabel
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@ast
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@en
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@nl
P2093
P356
P1476
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
@en
P2093
I A Aligianis
J D Mollon
J R Ainsworth
M Michaelides
P356
10.1136/JMG.2003.011437
P407
P50
P577
2004-02-01T00:00:00Z