Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene - Wikidata - wikimedia - TriplyDB

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

http://www.wikidata.org/entity/Q24531671

about

Retinitis pigmentosa Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention CRB3 binds directly to Par6 and regulates the morphogenesis of the tight junctions in mammalian epithelial cells Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice Unraveling the genetic complexity of Drosophila stardust during photoreceptor morphogenesis and prevention of light-induced degeneration.The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.CRB2 completes a fully expressed Crumbs complex in the Retinal Pigment Epithelium.Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development.Role of spastin in apical domain control along the rhabdomere elongation in Drosophila photoreceptor.Multiple domains in the Crumbs Homolog 2a (Crb2a) protein are required for regulating rod photoreceptor size.Genetic interaction of centrosomin and bazooka in apical domain regulation in Drosophila photoreceptor.Photoreceptor oxidative stress in hyperoxia-induced proliferative retinopathy accelerates rd8 degeneration Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Role of spectraplakin in Drosophila photoreceptor morphogenesis.Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype The role of crumbs genes in the vertebrate cornea.Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.Immunocytochemical evidence of the localization of the Crumbs homologue 3 protein (CRB3) in the developing and mature mouse retina Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.The complexities of ocular genetics.Ciliopathies: an expanding disease spectrum.Dying for a cause: invertebrate genetics takes on human neurodegeneration.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family RDH12 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.Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

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Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

http://www.wikidata.org/entity/Q24531671

description

2001 nî lūn-bûn

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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2001 թվականի հուլիսին հրատարակված գիտական հոդված

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2001年の論文

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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Leber congenital amaurosis and ...... crumbs homologue 1 (CRB1) gene

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A Blankenagel

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A F Deutman

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A I den Hollander

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P2860

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

Mutations in RPE65 cause Leber's congenital amaurosis

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

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