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CRB1 gene

Known as: LCA8, crumbs 1, cell polarity complex component, CRUMBS, DROSOPHILA, HOMOLOG OF, 1 
National Institutes of Health

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CRB1 protein, human

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy
Once considered science fiction, gene therapy is rapidly becoming scientific reality, targeting a growing number of the… 
Highly Cited
2014
Highly Cited
2014
Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
Highly Cited
2013
Highly Cited
2013
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
BackgroundCRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different… 
Review
2012
Review
2012
CRB1 mutations in inherited retinal dystrophies
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital… 
Highly Cited
2010
Highly Cited
2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Objectives To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the… 
Highly Cited
2008
Highly Cited
2008
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
Purpose Stargardt disease (STGD), characterized by central visual impairment, is the most common juvenile macular dystrophy. All… 
Highly Cited
2005
Highly Cited
2005
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
PURPOSE Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of… 
Highly Cited
2003
Highly Cited
2003
Mammalian Crumbs3 is a small transmembrane protein linked to protein associated with Lin-7 (Pals1).
Highly Cited
2002
Highly Cited
2002
Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
The apical transmembrane protein Crumbs is a central regulator of epithelial apical–basal polarity in Drosophila. Loss-of… 
Highly Cited
1999
Highly Cited
1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5… 
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