Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyX-linked cone dystrophy caused by mutation of the red and green cone opsinsGene therapy rescues cone function in congenital achromatopsia.Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunctionRetinal 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 AchromatopsiaA Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal DegenerationMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesGenomic 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-achromatopsiaMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyPhosphodiesterase 6C, cGMP-specific cone alpha'.The GAFa domain of phosphodiesterase-6 contains a rod outer segment localization signal.Utilizing Zebrafish Visual Behaviors in Drug Screening for Retinal DegenerationDark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.Molecular architecture of photoreceptor phosphodiesterase elucidated by chemical cross-linking and integrative modelingGenomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.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.Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.Integrity of the cone photoreceptor mosaic in oligocone trichromacy.Photoreceptor structure and function in patients with congenital achromatopsia.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyFlicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutationDecreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaAtypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.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.AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term EffectsA nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.
P2860
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P2860
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@ast
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@en
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@nl
type
label
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@ast
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@en
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@nl
prefLabel
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@ast
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@en
Homozygosity mapping reveals P ...... cone photoreceptor disorders.
@nl
P2093
P2860
P50
P1476
Homozygosity mapping reveals P ...... t cone photoreceptor disorders
@en
P2093
Alberta A H J Thiadens
Anneke I den Hollander
Bart P Leroy
Carel B Hoyng
Frans P M Cremers
Janneke J C van Lith-Verhoeven
L Ingeborgh van den Born
Mary J van Schooneveld
Norka van Moll-Ramirez
Renate C Zekveld-Vroon
P2860
P304
P356
10.1016/J.AJHG.2009.06.016
P407
P577
2009-07-16T00:00:00Z