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Crumbs homolog 1

CRB1, RP12
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Aug 2010] (from NCBI)
Top mentioned proteins: LCa, NKH, p63, HAD, CAN
Papers on CRB1
Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.
Smith et al., Augusta, United States. In Exp Eye Res, Jan 2016
UNASSIGNED: Mutations in crumb homologue 1 (CRB1) in humans are associated with Leber's congenital amaurosis (LCA) and retinitis pigmentosa (RP).
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Cremers et al., Nijmegen, Netherlands. In Eur J Hum Genet, Jan 2016
Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D.
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
Farkas et al., Budapest, Hungary. In Eur J Ophthalmol, Jan 2016
Genetic screening revealed AIPL1, CRB1, and CEP290 gene-related pathology in 6 patients; in 1 proband, no mutation was found.
Impact of Whole Exome Sequencing among Iranian Patients with Autosomal Recessive Retinitis Pigmentosa.
Najmabadi et al., Tehrān, Iran. In Arch Iran Med, Nov 2015
These mutations included two-frameshift insertion/deletion in CRB1 and ABCA4, one splicing mutation in PDE6B, four missense mutations in RP1, CRB1, PANK2 and IFT140, as well as three stop codon mutations in RDH12, PRCD, and C2orf71.
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Soumittra et al., Chennai, India. In Plos One, 2014
Homozygosity mapping using Affymetrix 250K HMA GeneChip on eleven LCA families followed by screening of candidate gene(s) in the homozygous block identified mutations in ten families; AIPL1 - 3 families, RPE65- 2 families, GUCY2D, CRB1, RDH12, IQCB1 and SPATA7 in one family each, respectively.
CRB2 completes a fully expressed Crumbs complex in the Retinal Pigment Epithelium.
Lillo et al., Salamanca, Spain. In Sci Rep, 2014
The CRB proteins CRB1, CRB2 and CRB3 are members of the cell polarity complex Crumbs in mammals that together with Scribble and Par complexes stablish the polarity of a variety of cell types.
The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation.
Craft et al., Los Angeles, United States. In Mol Vis, 2014
One of these strains, the commonly used C57BL/6N (B6N), was discovered to carry a point mutation in the Crumbs homolog 1 (Crb1(rd8) ) gene, which codes for a developmental protein involved in tight junction formation at the outer limiting membrane (OLM).
The CRB1 and adherens junction complex proteins in retinal development and maintenance.
Wijnholds et al., Amsterdam, Netherlands. In Prog Retin Eye Res, 2014
Here, we hypothesize how the mammalian apical CRB1 complex might control retinogenesis and prevents onset of Leber congenital amaurosis or retinitis pigmentosa.
CRB1: one gene, many phenotypes.
Fulton et al., Boston, United States. In Semin Ophthalmol, 2013
Mutations in the CRB1 gene cause severe retinal degenerations, which may present as Leber congenital amaurosis, early onset retinal dystrophy, retinitis pigmentosa, or cone-rod dystrophy.
Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.
Kim et al., Houston, United States. In Hum Mol Genet, 2012
Data show the deletion of Pals1 leads to the disruption of the apical localization of Crb polarity complex proteins Crb1, Crb2 and Crb3 in retinal progenitors and the adult retina.
CRB1 mutations in inherited retinal dystrophies.
Zeitz et al., Paris, France. In Hum Mutat, 2012
A review of seven novel mutations and classification of over 150 reported CRB1 sequence variants that were found in more that 240 patients with inherited retinal dystrophies.
Pharmacogenetics of genes across the doxorubicin pathway.
Boddy et al., Newcastle upon Tyne, United Kingdom. In Expert Opin Drug Metab Toxicol, 2011
Similar associations have been described for SNPs in the carbonyl reductase (CRB1 and CRB3) genes.
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
Jacobson et al., Philadelphia, United States. In Invest Ophthalmol Vis Sci, 2011
CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages.
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
Moore et al., London, United Kingdom. In Br J Ophthalmol, 2011
Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including Leber congenital amaurosis, childhood- and juvenile-onset rod-cone and cone-rod dystrophies.
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Zhang et al., Guangzhou, China. In Mol Vis, 2010
Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly.
Leber Congenital Amaurosis
Beattie et al., Seattle, United States. In Unknown Journal, 2004
Pathogenic variants in 17 genes are known to cause LCA: GUCY2D (locus name: LCA1), RPE65 (LCA2), SPATA7 (LCA3), AIPL1 (LCA4), LCA5 (LCA5), RPGRIP1 (LCA6), CRX (LCA7), CRB1 (LCA8), NMNAT1 (LCA9), CEP290 (LCA10), IMPDH1 (LCA11), RD3 (LCA12), RDH12 (LCA13), LRAT (LCA14), TULP1 (LCA15),KCNJ13 (LCA16), and IQCB1.
Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis.
Tepass et al., Toronto, Canada. In Nature, 2002
Loss-of-function mutations in the human homologue of Crumbs, CRB1 (RP12), cause recessive retinal dystrophies, including retinitis pigmentosa.
Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.
Choi et al., Houston, United States. In Nature, 2002
intracellular domain of CRB1 behaves similarly to its Drosophila counterpart when overexpressed in the fly eye
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Bergen et al., Nijmegen, Netherlands. In Nat Genet, 1999
The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration.
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