Protein crumbs homolog 1
The CRB1 gene encodes a photoreceptor protein. Mutations cause autosomal recessive Leber congenital amaurosis type 8.
Genetests:
Related Diseases:
References:
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Benayoun L et al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
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Bujakowska K et al. (2012) CRB1 mutations in inherited retinal dystrophies.
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Henderson RH et al. (2011) Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
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McKay GJ et al. (2005) Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
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den Hollander AI et al. (2004) CRB1 mutation spectrum in inherited retinal dystrophies.
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Mehalow AK et al. (2003) CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
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Jacobson SG et al. (2003) Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
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Gerber S et al. (2002) A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
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Roh MH et al. (2002) The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost.
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Pellikka M et al. (2002) Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis.
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Izaddoost S et al. (2002) Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.
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Bachmann A et al. (2001) Drosophila Stardust is a partner of Crumbs in the control of epithelial cell polarity.
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den Hollander AI et al. (2001) CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
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den Hollander AI et al. (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
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den Hollander AI et al. (1999) Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
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Diatchenko L et al. (1996) Suppression subtractive hybridization: a method for generating differentially regulated or tissue-specific cDNA probes and libraries.
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Vidaud D et al. (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.
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Bleeker-Wagemakers LM et al. (1992) Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.
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Abouzeid H et al. (2006) A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
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den Hollander AI et al. (2001) Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
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Lotery AJ et al. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis.
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Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
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OMIM.ORG article
Omim 604210
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Orphanet article
Orphanet ID 120803
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NCBI article
NCBI 23418
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Wikipedia article
Wikipedia EN (CRB1)
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Update: Aug. 14, 2020