Kaufmann M - Search Results

1

Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.

Jones G, Kaufmann M, St-Arnaud R. Jones G, et al. Among authors: kaufmann m. J Endocrinol Invest. 2024 Nov;47(11):2663-2670. doi: 10.1007/s40618-024-02381-8. Epub 2024 May 23. J Endocrinol Invest. 2024. PMID: 38780860 Review.

2

Importance of cytochrome P450-mediated metabolism in the mechanism of action of vitamin D analogs.

Masuda S, Gao M, Zhang A, Kaufmann M, Jones G. Masuda S, et al. Among authors: kaufmann m. Recent Results Cancer Res. 2003;164:189-202. doi: 10.1007/978-3-642-55580-0_14. Recent Results Cancer Res. 2003. PMID: 12899523 Review.

3

Insights into Vitamin D metabolism using cyp24 over-expression and knockout systems in conjunction with liquid chromatography/mass spectrometry (LC/MS).

Masuda S, Kaufmann M, Byford V, Gao M, St-Arnaud R, Arabian A, Makin HL, Knutson JC, Strugnell S, Jones G. Masuda S, et al. Among authors: kaufmann m. J Steroid Biochem Mol Biol. 2004 May;89-90(1-5):149-53. doi: 10.1016/j.jsbmb.2004.03.094. J Steroid Biochem Mol Biol. 2004. PMID: 15225763

4

Dehydroepiandrosterone (DHEA) metabolism in the brain: identification by liquid chromatography/mass spectrometry of the delta-4-isomer of DHEA and related steroids formed from androstenedione by mouse BV2 microglia.

Jellinck PH, Kaufmann M, Gottfried-Blackmore A, Croft G, Byford V, McEwen BS, Jones G, Bulloch K. Jellinck PH, et al. Among authors: kaufmann m. J Steroid Biochem Mol Biol. 2006 Jan;98(1):41-7. doi: 10.1016/j.jsbmb.2005.07.006. Epub 2005 Oct 3. J Steroid Biochem Mol Biol. 2006. PMID: 16203131

5

Hepatic activation and inactivation of clinically-relevant vitamin D analogs and prodrugs.

Jones G, Byford V, West S, Masuda S, Ibrahim G, Kaufmann M, Knutson JC, Strugnell S, Mehta R. Jones G, et al. Among authors: kaufmann m. Anticancer Res. 2006 Jul-Aug;26(4A):2589-95. Anticancer Res. 2006. PMID: 16886668 Free article.

6

Generation of a homology model for the human cytochrome P450, CYP24A1, and the testing of putative substrate binding residues by site-directed mutagenesis and enzyme activity studies.

Masuda S, Prosser DE, Guo YD, Kaufmann M, Jones G. Masuda S, et al. Among authors: kaufmann m. Arch Biochem Biophys. 2007 Apr 15;460(2):177-91. doi: 10.1016/j.abb.2006.11.030. Epub 2006 Dec 13. Arch Biochem Biophys. 2007. PMID: 17224124

7

Oxidation of vinyl carbamate and formation of 1,N6-ethenodeoxyadenosine in murine lung.

Forkert PG, Kaufmann M, Black G, Bowers R, Chen H, Collins K, Sharma A, Jones G. Forkert PG, et al. Among authors: kaufmann m. Drug Metab Dispos. 2007 May;35(5):713-20. doi: 10.1124/dmd.106.013805. Epub 2007 Feb 12. Drug Metab Dispos. 2007. PMID: 17296623

8

Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone.

Prosser DE, Kaufmann M, O'Leary B, Byford V, Jones G. Prosser DE, et al. Among authors: kaufmann m. Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12673-8. doi: 10.1073/pnas.0702093104. Epub 2007 Jul 23. Proc Natl Acad Sci U S A. 2007. PMID: 17646648 Free PMC article.

9

Selective conversion by microglia of dehydroepiandrosterone to 5-androstenediol-A steroid with inherent estrogenic properties.

Jellinck PH, Kaufmann M, Gottfried-Blackmore A, McEwen BS, Jones G, Bulloch K. Jellinck PH, et al. Among authors: kaufmann m. J Steroid Biochem Mol Biol. 2007 Nov-Dec;107(3-5):156-62. doi: 10.1016/j.jsbmb.2007.04.004. Epub 2007 Jun 22. J Steroid Biochem Mol Biol. 2007. PMID: 17681749

10

Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M. Schlingmann KP, et al. Among authors: kaufmann m. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15. N Engl J Med. 2011. PMID: 21675912 Free article.

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