Schuierer, Marion M. and Langmann, Thomas (2005) Molecular diagnosis of ATP-binding cassette transporter-related diseases. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 5 (5). pp. 755-767. ISSN 1473-7159, 1744-8352
Full text not available from this repository. (Request a copy)Abstract
ATP-binding cassette (ABC) transporters are involved in a variety of physiologic processes such as xenobiotic defense, lipid metabolism, ion homeostasis and immune functions. A large number of ABC proteins have been causatively linked to rare and common human genetic diseases including familial high-density lipoprotein deficiency, retinopathies, cystic fibrosis, diabetes and cardiomyopathies. Furthermore, genetic variations in ABC transporter genes and dysregulated expression patterns of these molecules significantly contribute to drug resistance in human cancer cells and alter the pharmacokinetic properties of a variety of drugs. In order to analyze DNA sequence alterations or define disease-associated mRNA expression patterns of the complete ABC transporter superfamily, novel high-throughput molecular methods such as quantitative real-time PCR and DNA microarray analysis are emerging. The aim of this review is to provide an overview and to present some examples of human ABC transporters involved in monogenic diseases, cancer and pharmacogenetics. Methodologic: aspects of molecular diagnostics applied to analyze genetic variations, mRNA and protein expression levels and functional characteristics of ABC transporters are discussed.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MULTIDRUG-RESISTANCE PROTEIN; P-GLYCOPROTEIN EXPRESSION; MESSENGER-RNA EXPRESSION; DENSITY-LIPOPROTEIN DEFICIENCY; RECESSIVE RETINITIS-PIGMENTOSA; CORONARY-ARTERY DISEASE; ACUTE MYELOID-LEUKEMIA; CYSTIC-FIBROSIS GENE; CANCER CELL-LINE; BREAST-CANCER; ATP-binding cassette transporters; cystic fibrosis; familial HDL deficiency; molecular diagnostics; multidrug resistance; pharmacogenetics; polymorphisms |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 21 Jun 2022 10:33 |
| Last Modified: | 21 Jun 2022 10:33 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35685 |
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