Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaTreatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialThe 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 and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesThe Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cellsTargeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsThe retinal pigment epithelium in health and diseaseWhole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotypeThe genetics of eye disorders in the dogWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.DNA testing and domestic dogsCRB1 mutations in inherited retinal dystrophiesHigh Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neuronsPotential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin.Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry.Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4
P2860
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P2860
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Identification of mutations in ...... juvenile retinitis pigmentosa
@ast
Identification of mutations in ...... juvenile retinitis pigmentosa
@en
Identification of mutations in ...... juvenile retinitis pigmentosa
@nl
type
label
Identification of mutations in ...... juvenile retinitis pigmentosa
@ast
Identification of mutations in ...... juvenile retinitis pigmentosa
@en
Identification of mutations in ...... juvenile retinitis pigmentosa
@nl
prefLabel
Identification of mutations in ...... juvenile retinitis pigmentosa
@ast
Identification of mutations in ...... juvenile retinitis pigmentosa
@en
Identification of mutations in ...... juvenile retinitis pigmentosa
@nl
P2093
P356
P1476
Identification of mutations in ...... juvenile retinitis pigmentosa
@en
P2093
A A B Bergen
J B ten Brink
M J van Schooneveld
P T V M de Jong
R J Florijn
P356
10.1136/JMG.2005.035121
P407
P577
2005-11-01T00:00:00Z