Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Multidrug-Resistenz-Protein 1

Das ABCB1-Gen kodiert ein Transportprotein, welches am Metabolismus verschiedener Medikamente beteiligt ist. Verschiedene Variationen werden im Zusammenhang mit einer inflammatorischen Darmerkrankung gesehen.

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 entzündliche Darmerkrankungen 13
ABCB1

Referenzen:

1.

de Lannoy IA et. al. (1992) The MDR1 gene product, P-glycoprotein, mediates the transport of the cardiac glycoside, digoxin.

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2.

Trezise AE et. al. (1992) The multidrug resistance and cystic fibrosis genes have complementary patterns of epithelial expression.

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3.

Chan HS et. al. (1991) P-glycoprotein expression as a predictor of the outcome of therapy for neuroblastoma.

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4.

Safa AR et. al. (1990) Molecular basis of preferential resistance to colchicine in multidrug-resistant human cells conferred by Gly-185----Val-185 substitution in P-glycoprotein.

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5.

Taylor HR et. al. (1990) Impact of mass treatment of onchocerciasis with ivermectin on the transmission of infection.

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6.

Kartner N et. al. () Detection of P-glycoprotein in multidrug-resistant cell lines by monoclonal antibodies.

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7.

Fojo AT et. al. (1987) Expression of a multidrug-resistance gene in human tumors and tissues.

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8.

Ruiz JC et. al. (1989) Autonomously replicating episomes contain mdr1 genes in a multidrug-resistant human cell line.

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9.

Riordan JR et. al. () Amplification of P-glycoprotein genes in multidrug-resistant mammalian cell lines.

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10.

Chen CJ et. al. (1986) Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.

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11.

Bell DR et. al. (1987) Chromosomal location of human P-glycoprotein gene sequences.

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12.

Ueda K et. al. (1986) The mdr1 gene, responsible for multidrug-resistance, codes for P-glycoprotein.

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13.

Trent JM et. al. (1987) Clarification of the chromosomal assignment of the human P-glycoprotein/mdr1 gene: possible coincidence with the cystic fibrosis and c-met oncogene.

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14.

Martinsson T et. al. (1987) Localization of the multidrug resistance-associated 170 kDa P-glycoprotein gene to mouse chromosome 5 and to homogeneously staining regions in multidrug-resistant mouse cells by in situ hybridization.

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15.

Ueda K et. al. (1987) Isolation and sequence of the promoter region of the human multidrug-resistance (P-glycoprotein) gene.

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16.

Choi KH et. al. (1988) An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene.

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17.

Fojo A et. al. (1986) Localization of multidrug resistance-associated DNA sequences to human chromosome 7.

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18.

Gros P et. al. () Isolation and expression of a complementary DNA that confers multidrug resistance.

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19.

Ueda K et. al. (1987) The human multidrug resistance (mdr1) gene. cDNA cloning and transcription initiation.

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20.

Croop JM et. al. (1988) Genetics of multidrug resistance.

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21.

Shen DW et. al. (1986) Human multidrug-resistant cell lines: increased mdr1 expression can precede gene amplification.

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22.

Roninson IB et. al. (1986) Isolation of human mdr DNA sequences amplified in multidrug-resistant KB carcinoma cells.

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23.

Ueda K et. al. (1987) Expression of a full-length cDNA for the human "MDR1" gene confers resistance to colchicine, doxorubicin, and vinblastine.

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24.

Callen DF et. al. (1987) Localization of the human multiple drug resistance gene, MDR1, to 7q21.1.

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25.

Pastan I et. al. (1987) Multiple-drug resistance in human cancer.

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26.

Slovak ML et. al. (1987) Cytogenetic alterations associated with the acquisition of doxorubicin resistance: possible significance of chromosome 7 alterations.

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27.

Gros P et. al. (1986) Mammalian multidrug resistance gene: complete cDNA sequence indicates strong homology to bacterial transport proteins.

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28.

Baldini N et. al. (1995) Expression of P-glycoprotein in high-grade osteosarcomas in relation to clinical outcome.

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29.

Schinkel AH et. al. (1994) Disruption of the mouse mdr1a P-glycoprotein gene leads to a deficiency in the blood-brain barrier and to increased sensitivity to drugs.

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30.

van Helvoort A et. al. (1996) MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine.

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31.

Mickley LA et. al. (1997) Gene rearrangement: a novel mechanism for MDR-1 gene activation.

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32.

Kim RB et. al. (1998) The drug transporter P-glycoprotein limits oral absorption and brain entry of HIV-1 protease inhibitors.

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33.

Randolph GJ et. al. (1998) A physiologic function for p-glycoprotein (MDR-1) during the migration of dendritic cells from skin via afferent lymphatic vessels.

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34.

Lankas GR et. al. () Placental P-glycoprotein deficiency enhances susceptibility to chemically induced birth defects in mice.

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35.

Panwala CM et. al. (1998) A novel model of inflammatory bowel disease: mice deficient for the multiple drug resistance gene, mdr1a, spontaneously develop colitis.

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36.

Smit JW et. al. (1999) Absence or pharmacological blocking of placental P-glycoprotein profoundly increases fetal drug exposure.

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37.

Hoffmeyer S et. al. (2000) Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo.

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38.

Synold TW et. al. (2001) The orphan nuclear receptor SXR coordinately regulates drug metabolism and efflux.

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39.

Schaeffeler E et. al. (2001) Frequency of C3435T polymorphism of MDR1 gene in African people.

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40.

Mealey KL et. al. (2001) Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene.

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41.

Siddiqui A et. al. (2003) Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1.

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42.

Brant SR et. al. (2003) MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.

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43.

Tang K et. al. (2004) Genomic evidence for recent positive selection at the human MDR1 gene locus.

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44.

Neff MW et. al. (2004) Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage.

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45.

Zimprich F et. al. (2004) Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy.

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46.

Tan NC et. al. (2004) Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy.

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47.

Tate SK et al. (2005) Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

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48.

Dong J et. al. (2005) Structural basis of energy transduction in the transport cycle of MsbA.

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49.

Wang YC et. al. (2006) Regional activation of chromosomal arm 7q with and without gene amplification in taxane-selected human ovarian cancer cell lines.

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50.

Ho GT et. al. (2006) ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach.

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51.

Dawson RJ et. al. (2006) Structure of a bacterial multidrug ABC transporter.

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52.

Kimchi-Sarfaty C et. al. (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity.

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53.

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

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54.

Aller SG et. al. (2009) Structure of P-glycoprotein reveals a molecular basis for poly-specific drug binding.

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55.

Bao L et. al. (2012) Increased expression of P-glycoprotein and doxorubicin chemoresistance of metastatic breast cancer is regulated by miR-298.

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56.

Katayama K et. al. (2014) Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-glycoprotein/ABCB1 and down-regulates the expression and function.

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