about
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administrationNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsLimited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationMutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisPharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.The role of primary cilia in the development and disease of the retinaLentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindnessGenetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsVisual electrophysiological features of two naturally occurring mouse models with retinal dysfunctionCauses of blindness at the "Wiyata Guna" School for the Blind, Indonesia.Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transferA study of candidate genes for day blindness in the standard wire haired dachshundProteomic profiling of the retinal dysplasia and degeneration chick retina.Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsGenomic organization of zebrafish cone-rod homeobox gene and exclusion as a candidate gene for retinal degeneration in niezerka and mikre oko.Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.Optogenetic therapy for retinitis pigmentosa.Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina.Biochemical and physiological properties of rhodopsin regenerated with 11-cis-6-ring- and 7-ring-retinalsExome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosisAAV-mediated photoreceptor transduction of the pig cone-enriched retina.Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.Advances in AAV-mediated gene transfer for the treatment of inherited disorders.Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Exome capture sequencing identifies a novel mutation in BBS4Leber congenital amaurosis: a genetic paradigm.Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.Genetic disorders involving molecular-chaperone genes: a perspective.Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors.Retinoid uptake, processing, and secretion in human iPS-RPE support the visual cycle.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsRPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.AAV-mediated gene transfer for retinal diseases.Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Molecular characterization of Leber congenital amaurosis in Koreans.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Molecular genetics of Leber congenital amaurosis.
@ast
Molecular genetics of Leber congenital amaurosis.
@en
Molecular genetics of Leber congenital amaurosis.
@nl
type
label
Molecular genetics of Leber congenital amaurosis.
@ast
Molecular genetics of Leber congenital amaurosis.
@en
Molecular genetics of Leber congenital amaurosis.
@nl
prefLabel
Molecular genetics of Leber congenital amaurosis.
@ast
Molecular genetics of Leber congenital amaurosis.
@en
Molecular genetics of Leber congenital amaurosis.
@nl
P2093
P356
P1476
Molecular genetics of Leber congenital amaurosis.
@en
P2093
Anneke I den Hollander
Frans P M Cremers
José A J M van den Hurk
P304
P356
10.1093/HMG/11.10.1169
P577
2002-05-01T00:00:00Z