IQCB1 mutations in patients with leber congenital amaurosis.
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Mutation of POC1B in a severe syndromic retinal ciliopathyDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRetinal dystrophies, genomic applications in diagnosis and prospects for therapyDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseasePathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementCone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyIFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesisGenomic approaches for the discovery of genes mutated in inherited retinal degeneration.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsNovel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab familyRDH12 retinopathy: novel mutations and phenotypic description.Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian FamiliesMutations in human IFT140 cause non-syndromic retinal degenerationMutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breedsComprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Insights gained from gene therapy in animal models of retGC1 deficiency.Leber congenital amaurosis caused by mutations in GUCY2D.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network.Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Photoreceptor Cilia and Retinal Ciliopathies.
P2860
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P2860
IQCB1 mutations in patients with leber congenital amaurosis.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
IQCB1 mutations in patients with leber congenital amaurosis.
@en
IQCB1 mutations in patients with leber congenital amaurosis.
@nl
type
label
IQCB1 mutations in patients with leber congenital amaurosis.
@en
IQCB1 mutations in patients with leber congenital amaurosis.
@nl
prefLabel
IQCB1 mutations in patients with leber congenital amaurosis.
@en
IQCB1 mutations in patients with leber congenital amaurosis.
@nl
P2093
P50
P356
P1476
IQCB1 mutations in patients with leber congenital amaurosis
@en
P2093
Anneke I den Hollander
Antje Bernd
Carel B Hoyng
Debbie Roeleveld
Frans P M Cremers
Françoise Meire
Irene H Maumenee
Irma Lopez
Jonah Marek
Klaus Rohrschneider
P304
P356
10.1167/IOVS.10-5221
P407
P50
P577
2011-02-11T00:00:00Z