Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CYP7A1 gene encodes an enzyme of bile acid metabolism. An involvement in statine responsiveness and plasma lipid levels is assumed.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Angelin B et al. (1978) Bile acid kinetics in relation to endogenous tryglyceride metabolism in various types of hyperlipoproteinemia. 
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| 2. |
Agellon LB et al. (2002) Dietary cholesterol fails to stimulate the human cholesterol 7alpha-hydroxylase gene (CYP7A1) in transgenic mice.
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| 3. |
Drover VA et al. (2002) A distinct thyroid hormone response element mediates repression of the human cholesterol 7alpha-hydroxylase (CYP7A1) gene promoter.
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| 4. |
Goodwin B et al. (2000) A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis.
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| 5. |
Lu TT et al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.
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| 6. |
Repa JJ et al. (2000) Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers.
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| 7. |
Nitta M et al. (1999) CPF: an orphan nuclear receptor that regulates liver-specific expression of the human cholesterol 7alpha-hydroxylase gene.
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| 8. |
Wang J et al. (1998) Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations.
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| 9. |
Angelin B et al. (1987) Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia.
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| 10. |
Noshiro M et al. (1990) Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylase.
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| 11. |
Paumgartner G et al. (1991) Gallstones: pathogenesis.
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| 12. |
Cohen JC et al. (1992) Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12.
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| 13. |
Molowa DT et al. (1992) Transcriptional regulation of the human cholesterol 7 alpha-hydroxylase gene.
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| 14. |
Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.
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| 15. |
NCBI article NCBI 1581
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| 16. |
OMIM.ORG article Omim 118455
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| 17. |
Orphanet article Orphanet ID 212882
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| 18. |
Wikipedia article Wikipedia EN (Cholesterol_7_alpha-hydroxylase)
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