Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kanikulärer multispezifischer organische-Anionen-Transporter

Das ABCC2-Gen kodiert eine Membran-Transportprotein, welches zur Oberfamilie der ATP-bindenden Transportern gehört. Mutationen sind mit der Statinunverträglichkeit assoziiert.

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:

Dubin-Johnson-Syndrom
ABCC2

Referenzen:

1.

Shani M et. al. (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases.

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2.

None (1993) Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis.

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3.

Paulusma CC et. al. (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.

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4.

Taniguchi K et. al. (1996) A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation.

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5.

Ito K et. al. (1997) Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR.

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6.

van Kuijck MA et. al. (1997) Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization.

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7.

Wada M et. al. (1998) Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

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8.

Gopalan G et. al. (1998) Chromosome localization of two new mammalian kinases related to yeast and fly chromosome segregation-regulators.

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9.

Evers R et. al. (1998) Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.

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10.

Kajihara S et. al. (1998) A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.

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11.

Toh S et. al. (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.

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12.

Mor-Cohen R et. al. (2001) Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.

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13.

Materna V et. al. (2003) Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.

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14.

Pacifico L et. al. (2010) Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

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15.

Xu K et. al. (2012) miR-297 modulates multidrug resistance in human colorectal carcinoma by down-regulating MRP-2.

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