Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
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Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyCNGA3 mutations in hereditary cone photoreceptor disordersA novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degenerationGene therapy rescues cone function in congenital achromatopsia.The pharmacology of cyclic nucleotide-gated channels: emerging from the darknessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyAdvances in understanding the molecular basis of the first steps in color visionAAV-mediated gene therapy in mouse models of recessive retinal degenerationA comprehensive review of retinal gene therapyGene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 AchromatopsiaMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaFunctional 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 achromatopsiaLoss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceGenomic 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-achromatopsiaThe proteome of the mouse photoreceptor sensory cilium complexGating of heteromeric retinal rod channels by cyclic AMP: role of the C-terminal and pore domains.Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.A study of candidate genes for day blindness in the standard wire haired dachshundFrom caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.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.Phototransduction in mouse rods and cones.A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit.Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone functionDark-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.The genetics of eye disorders in the dogGenomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Five novel CNGB3 gene mutations in Polish patients with achromatopsiaCanine inherited retinal degenerations: update on molecular genetic research and its clinical application.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.Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).Oligocone trichromacy: a rare and unusual cone dysfunction syndrome.
P2860
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P2860
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@ast
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@en
type
label
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@ast
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@en
prefLabel
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@ast
Mutations in the CNGB3 gene en ...... M3) linked to chromosome 8q21.
@en
P2093
P356
P1476
Mutations in the CNGB3 gene en ...... HM3) linked to chromosome 8q21
@en
P2093
B Wissinger
L T Sharpe
M Anastasi
M Broghammer
P304
P356
10.1093/HMG/9.14.2107
P577
2000-09-01T00:00:00Z