Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination - Wikidata - wikimedia - TriplyDB

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

http://www.wikidata.org/entity/Q28191585

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A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome.Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis The Family of Crumbs Genes and Human Disease Human cone photoreceptor dependence on RPE65 isomerase In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa Expansion of phenotype and genotypic data in CRB2-related syndrome Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development.Towards a quantitative OCT image analysis.Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.CDC42 is required for tissue lamination and cell survival in the mouse retina.CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.Novel neuroprotective function of apical-basal polarity gene crumbs in amyloid beta 42 (aβ42) mediated neurodegeneration Review and update on the molecular basis of Leber congenital amaurosis Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations Retinal disease course in Usher syndrome 1B due to MYO7A mutations CRB1 mutations in inherited retinal dystrophies Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.RPGR-associated retinal degeneration in human X-linked RP and a murine model.Towards understanding CRUMBS function in retinal dystrophies.From vivarium to bedside: lessons learned from animal models.Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants Defective Angiogenesis and Intraretinal Bleeding in Mouse Models With Disrupted Inner Retinal Lamination Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.What drives cell morphogenesis: a look inside the vertebrate photoreceptor Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy.The genetics of ocular disorders: insights from the zebrafish.

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P2860

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

http://www.wikidata.org/entity/Q28191585

description

2003 nî lūn-bûn

@nan

2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@ast

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@en

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@nl

type

label

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@ast

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@en

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@nl

prefLabel

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@ast

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@en

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@nl

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Human Molecular Genetics

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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

@en

P2093

Alexander Sumaroka

http://www.w3.org/2001/XMLSchema#string

Ann H Milam

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Artur V Cideciyan

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Elaine E Smilko

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Sharon B Schwartz

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Tomas S Aleman

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Val C Sheffield

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1073-8

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scholarly article

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2087726

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10.1093/HMG/DDG117

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9

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12

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Samuel G. Jacobson

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2003-05-01T00:00:00Z

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277450011

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12700176

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