- 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...