Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
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The pharmacology of cyclic nucleotide-gated channels: emerging from the darknessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyCanine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and TreatmentCompound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaCyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransductionThe disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.A prospective longitudinal study of retinal structure and function in achromatopsia.Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.Five novel CNGB3 gene mutations in Polish patients with achromatopsiaDistinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors.Early-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 therapyPhotoreceptor structure and function in patients with congenital achromatopsia.Spatial and temporal variation of rod photoreceptor reflectance in the human retina.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutationVitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsiaInherited 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.cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice.Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunitNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingAchromatopsia 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.In vivo imaging of the photoreceptor mosaic of a rod monochromatCNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactionsRod and rod-driven function in achromatopsia and blue cone monochromatism.Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice.Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.The morphology of human rod ERGs obtained by silent substitution stimulation.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.Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death
P2860
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P2860
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@ast
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@en
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@nl
type
label
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@ast
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@en
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@nl
prefLabel
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@ast
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@en
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@nl
P2093
P3181
P356
P1433
P1476
Cone cGMP-gated channel mutati ...... other hereditary cone diseases
@en
P2093
Eliot L Berson
Koji M Nishiguchi
Michael A Sandberg
Nasim Gorji
Thaddeus P Dryja
P304
P3181
P356
10.1002/HUMU.20142
P407
P577
2005-03-01T00:00:00Z