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Protein-Crumbs-Homolog 1

Das CRB1-Gen kodiert ein Protein des Photorezeptors. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 8.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 08
CRB1

Referenzen:

1.

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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2.

Bujakowska K et al. (2012) CRB1 mutations in inherited retinal dystrophies.

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3.

Henderson RH et al. (2011) Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

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4.

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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5.

den Hollander AI et al. (2004) CRB1 mutation spectrum in inherited retinal dystrophies.

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6.

Mehalow AK et al. (2003) CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.

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7.

Jacobson SG et al. (2003) Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

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8.

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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9.

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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10.

Pellikka M et al. (2002) Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis.

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11.

Izaddoost S et al. (2002) Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.

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12.

Bachmann A et al. (2001) Drosophila Stardust is a partner of Crumbs in the control of epithelial cell polarity.

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13.

den Hollander AI et al. (2001) CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.

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14.

den Hollander AI et al. (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

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15.

den Hollander AI et al. (1999) Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.

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16.

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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17.

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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18.

Bleeker-Wagemakers LM et al. (1992) Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.

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19.

Abouzeid H et al. (2006) A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

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20.

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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21.

Lotery AJ et al. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis.

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22.

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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23.

OMIM.ORG article

Omim 604210 external link
24.

Orphanet article

Orphanet ID 120803 external link
25.

NCBI article

NCBI 23418 external link
Update: 14. August 2020
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