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Items: 1 to 20 of 43

1.

Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb.

Schmidt K, Hughes C, Chudek JA, Goodyear SR, Aspden RM, Talbot R, Gundersen TE, Blomhoff R, Henderson C, Wolf CR, Tickle C.

Mol Cell Biol. 2009 May;29(10):2716-29. doi: 10.1128/MCB.01638-08. Epub 2009 Mar 9.

2.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T.

J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3.

PMID:
19258400
3.

Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient.

Rieckmann T, Zhuang L, Flück CE, Trueb B.

Biochim Biophys Acta. 2009 Feb;1792(2):112-21. doi: 10.1016/j.bbadis.2008.11.006. Epub 2008 Nov 13.

4.

Genetic variation in human P450 oxidoreductase.

Miller WL, Huang N, Agrawal V, Giacomini KM.

Mol Cell Endocrinol. 2009 Mar 5;300(1-2):180-4. doi: 10.1016/j.mce.2008.09.017. Epub 2008 Sep 26. Review.

PMID:
18930113
5.

Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL.

J Clin Endocrinol Metab. 2008 Sep;93(9):3584-8. doi: 10.1210/jc.2008-0051. Epub 2008 Jun 17.

6.

Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.

Kranendonk M, Marohnic CC, Panda SP, Duarte MP, Oliveira JS, Masters BS, Rueff J.

Arch Biochem Biophys. 2008 Jul 15;475(2):93-9. doi: 10.1016/j.abb.2008.04.014. Epub 2008 Apr 20.

7.

Genetic and clinical features of p450 oxidoreductase deficiency.

Scott RR, Miller WL.

Horm Res. 2008;69(5):266-75. doi: 10.1159/000114857. Epub 2008 Feb 6. Review.

8.

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Huang N, Agrawal V, Giacomini KM, Miller WL.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1733-8. doi: 10.1073/pnas.0711621105. Epub 2008 Jan 29.

9.

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.

Pandey AV, Kempná P, Hofer G, Mullis PE, Flück CE.

Mol Endocrinol. 2007 Oct;21(10):2579-95. Epub 2007 Jun 26.

PMID:
17595315
10.

Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.

Dhir V, Ivison HE, Krone N, Shackleton CH, Doherty AJ, Stewart PM, Arlt W.

Mol Endocrinol. 2007 Aug;21(8):1958-68. Epub 2007 May 15.

PMID:
17505056
11.

A variant in the cytochrome p450 oxidoreductase gene is associated with breast cancer risk in African Americans.

Haiman CA, Setiawan VW, Xia LY, Le Marchand L, Ingles SA, Ursin G, Press MF, Bernstein L, John EM, Henderson BE.

Cancer Res. 2007 Apr 15;67(8):3565-8.

12.

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

Scott RR, Gomes LG, Huang N, Van Vliet G, Miller WL.

J Clin Endocrinol Metab. 2007 Jun;92(6):2318-22. Epub 2007 Mar 27.

PMID:
17389698
13.

Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase.

Marohnic CC, Panda SP, Martásek P, Masters BS.

J Biol Chem. 2006 Nov 24;281(47):35975-82. Epub 2006 Sep 24.

14.
15.

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

Lopez-Rangel E, Van Allen MI.

Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):919-23.

PMID:
16265639
16.
17.

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL.

Am J Hum Genet. 2005 May;76(5):729-49. Epub 2005 Mar 25.

18.
19.

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T.

J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. Epub 2004 Oct 13.

PMID:
15483095

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