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CNGA3 mutations in hereditary cone photoreceptor disorders

CNGA3 mutations in hereditary cone photoreceptor disorders

http://www.wikidata.org/entity/Q24533363

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Mapping of transcription start sites of human retina expressed genes Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration Gene therapy rescues cone function in congenital achromatopsia.The pharmacology of cyclic nucleotide-gated channels: emerging from the darkness AAV-mediated gene therapy in mouse models of recessive retinal degeneration Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the dark Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.The 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.CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.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.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Five novel CNGB3 gene mutations in Polish patients with achromatopsia Distinct 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.Clinical utility gene card for: achromatopsia Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy Photoreceptor structure and function in patients with congenital achromatopsia.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.The cone dysfunction syndromes.Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels

P2860

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P2860

CNGA3 mutations in hereditary cone photoreceptor disorders

http://www.wikidata.org/entity/Q24533363

description

2001 nî lūn-bûn

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2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի օգոստոսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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CNGA3 mutations in hereditary cone photoreceptor disorders

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American Journal of Human Genetics

P1476

CNGA3 mutations in hereditary cone photoreceptor disorders

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P2093

Andreasson S

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Apfelstedt-Sylla E

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Bitoun P

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Broghammer M

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Castellan C

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Gamer D

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Hoyng CB

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Jurklies B

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Jägle H

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P2860

Genetic basis of total colourblindness among the Pingelapese islanders

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors

Homozygosity mapping of the Achromatopsia locus in the Pingelapese

Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart

Genetic heterogeneity among blue-cone monochromats

Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

P304

722-737

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10.1086/323613

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4

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69

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Samuel G. Jacobson

Eberhart Zrenner

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2001-08-30T00:00:00Z

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25047902

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11536077

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Photoreceptor protein

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1226059

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