Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
about
Gene therapy rescues cone function in congenital achromatopsia.Type 3 deiodinase, a thyroid-hormone-inactivating enzyme, controls survival and maturation of cone photoreceptorsCNTF and retinaGenomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.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.Achromatopsia caused by novel missense mutations in the CNGA3 gene.Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.Molecular genetics of infantile-onset retinal dystrophies.Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.The function of dog models in developing gene therapy strategies for human health.Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).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.CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophySearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860
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P2860
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
description
2007 nî lūn-bûn
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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
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2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
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name
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@ast
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@en
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@nl
type
label
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@ast
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@en
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@nl
prefLabel
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@ast
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@en
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@nl
P2093
P1433
P1476
Achromatopsia: the CNGB3 p.T38 ...... port of uniparental disomy 14.
@en
P2093
James R Lupski
Richard Alan Lewis
Wojciech Wiszniewski
P2888
P304
P356
10.1007/S00439-006-0314-Y
P577
2007-01-31T00:00:00Z
P6179
1030447947