Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Protein-Crumbs-Homolog 1

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

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Lebersche kongenitale Amaurose 08
CRB1

Referenzen:

1.

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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2.

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

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3.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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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9.

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

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10.

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

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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.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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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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.

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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21.

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

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22.

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

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