Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceRP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyWhole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsNMNAT1 mutations cause Leber congenital amaurosisThe human visual cortex responds to gene therapy-mediated recovery of retinal functionRetinal dystrophies, genomic applications in diagnosis and prospects for therapyImmunology of AAV-Mediated Gene Transfer in the EyeComprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkExome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisFas ligand-Fas signaling participates in light-induced apoptotic death in photoreceptor cellsExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesSerial sectioning for examination of photoreceptor cell architecture by focused ion beam technology.Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.AAV2 gene therapy readministration in three adults with congenital blindness.A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.AAV9 targets cone photoreceptors in the nonhuman primate retina.A single intravenous AAV9 injection mediates bilateral gene transfer to the adult mouse retina.CERKL knockdown causes retinal degeneration in zebrafish.Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesA homozygous mutation in the TUB gene associated with retinal dystrophy and obesityIncreasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandExome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Key enzymes of the retinoid (visual) cycle in vertebrate retinaViral-mediated RdCVF and RdCVFL expression protects cone and rod photoreceptors in retinal degenerationDietary 9-cis-β,β-carotene fails to rescue vision in mouse models of leber congenital amaurosisMutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingFunctional and anatomic consequences of subretinal dosing in the cynomolgus macaqueWhole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@en
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@nl
type
label
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@en
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@nl
prefLabel
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@en
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@nl
P2093
P2860
P356
P1476
Lighting a candle in the dark: ...... recessive retinal dystrophies.
@en
P2093
Aaron Black
Anneke I den Hollander
Frans P M Cremers
Jean Bennett
P2860
P304
P356
10.1172/JCI42258
P407
P577
2010-09-01T00:00:00Z