Research Topics
Species | S RustSummaryCountry: Germany Publications
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Detail Information
Publications
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategyS Rust
Institute of Arteriosclerosis Research, University of Munster, Germany
Nat Genet 20:96-8. 1998..05 at D9S1784). We also provide evidence that TD may be due to a loss-of-function defect...
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1S Rust
Institut für Arterioskleroseforschung an der Westfälischen Wilhelms Universität Münster, Germany
Nat Genet 22:352-5. 1999..An in-frame insertion-deletion in exon 12 was found in the second family. Our findings indicate that defects in ABC1, encoding a member of the ABC transporter superfamily, are the cause of TD...
The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophagesT Engel
Macrophage Metabolism, Institut für Arterioskleroseforschung, Westfalische Wilhelms Universitat, Domagkstrasse 3, 48149 Munster, Germany
Biochem Biophys Res Commun 288:483-8. 2001..6 kb in size on chromosome 11q23.3. Based on its structural features and an LXR/RXR-responsive regulation similar to the cellular lipid export protein ABCA1, we conclude that ABCG4 may be involved in macrophage lipid homeostasis...
The transforming growth factor-beta1 gene polymorphism (G915C) is not associated with systemic lupus erythematosusH Schotte
Medizinische Klinik und Poliklinik B, Universitatsklinikum, Munster, Germany
Lupus 12:86-92. 2003..Further studies are needed to corroborate the pathogenic role of TGF-beta1 in SLE patients and to identify the precise genetic elements controlling its production...
Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindredA T Remaley
National Institutes of Health, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 96:12685-90. 1999..These results will be useful in the future characterization of the structure and function of the ABC1 gene and the analysis of additional ABC1 mutations in patients with Tangier disease...
Genomic sequence and structure of the human ABCG1 (ABC8) geneS Lorkowski
Institut für Arterioskleroseforschung, Westfalische Wilhelms Universitat Munster, Germany
Biochem Biophys Res Commun 280:121-31. 2001..Nevertheless, both promoters responded in macrophages to stimulation by hydroxycholesterol and retinoic acid...
Interleukin-6 promoter polymorphism (--174 G/C) in Caucasian German patients with systemic lupus erythematosusH Schotte
Medizinische Klinik und Poliklinik B, Westfalische Wilhelms Universitat, Munster, Germany
Rheumatology (Oxford) 40:393-400. 2001..A biallelic polymorphism (--174 G/C) within the interleukin-6 (IL-6) promoter reportedly has functional importance through the modulation of IL-6 expression in vitro and in vivo...
Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in menG Benze
Institut fur Klinische Chemie und Laboratoriumsmedizin, Westfalische Wilhelms Universitat Munster, Munster, Germany
Eur Heart J 23:325-30. 2002..The T807 allele of the GPIa gene alone or in combination with the PlA2 allele had no major effect on premature myocardial infarction risk...
