Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ATP-Bindungskassette sub-familie G member 2

Das ABCG2-Gen kodiert ein Trasnportprotein. Verschiedene Variationen sind im Zusammenhang mit verändertem Metabolismus von Medikamenten beschrieben worden. Außerdem scheines eine Rolle bei der Entwicklung der Hyperurikämie und Gicht zu spielen.

Diagnostik:

Research 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:

Veranlagung für Gicht 1
ABCG2

Referenzen:

1.

Sims-Mourtada J et. al. (2007) Sonic Hedgehog promotes multiple drug resistance by regulation of drug transport.

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2.

Allikmets R et. al. (1998) A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance.

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3.

Doyle LA et. al. (1998) A multidrug resistance transporter from human MCF-7 breast cancer cells.

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4.

Miyake K et. al. (1999) Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes.

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5.

Ozvegy C et. al. (2001) Functional characterization of the human multidrug transporter, ABCG2, expressed in insect cells.

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6.

Bailey-Dell KJ et. al. (2001) Promoter characterization and genomic organization of the human breast cancer resistance protein (ATP-binding cassette transporter G2) gene.

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7.

Eisenblätter T et. al. (2002) A new multidrug resistance protein at the blood-brain barrier.

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8.

Ozvegy C et. al. (2002) Characterization of drug transport, ATP hydrolysis, and nucleotide trapping by the human ABCG2 multidrug transporter. Modulation of substrate specificity by a point mutation.

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9.

Jonker JW et. al. (2002) The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and protoporphyria.

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10.

Krishnamurthy P et. al. (2004) The stem cell marker Bcrp/ABCG2 enhances hypoxic cell survival through interactions with heme.

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11.

Jonker JW et. al. (2005) The breast cancer resistance protein BCRP (ABCG2) concentrates drugs and carcinogenic xenotoxins into milk.

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12.

Maekawa K et. al. (2006) Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population.

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13.

Dehghan A et. al. (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

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14.

Woodward OM et. al. (2009) Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.

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15.

Matsuo H et. al. (2009) Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

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16.

Wang F et. al. (2010) hsa-miR-520h downregulates ABCG2 in pancreatic cancer cells to inhibit migration, invasion, and side populations.

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17.

Saison C et. al. (2012) Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior.

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18.

Zelinski T et. al. (2012) ABCG2 null alleles define the Jr(a-) blood group phenotype.

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