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Items: 1 to 20 of 122

1.

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL.

Nat Genet. 2004 Mar;36(3):228-30. Epub 2004 Feb 1.

PMID:
14758361
2.

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A.

Am J Med Genet A. 2004 Aug 1;128A(4):333-9.

PMID:
15264278
3.

[Antley-Bixler syndrome or POR deficiency?].

Tomková M, Marohnic CC, Baxová A, Martásek P.

Cas Lek Cesk. 2008;147(5):261-5. Review. Czech.

PMID:
18630181
4.

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.

Flück CE, Mullis PE, Pandey AV.

Biochem Biophys Res Commun. 2010 Oct 8;401(1):149-53. doi: 10.1016/j.bbrc.2010.09.035. Epub 2010 Sep 16.

PMID:
20849814
5.

Clinical and biochemical consequences of p450 oxidoreductase deficiency.

Flück CE, Pandey AV.

Endocr Dev. 2011;20:63-79. doi: 10.1159/000321221. Epub 2010 Dec 16. Review.

PMID:
21164260
6.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.

Pandey AV, Flück CE, Huang N, Tajima T, Fujieda K, Miller WL.

Endocr Res. 2004 Nov;30(4):881-8.

PMID:
15666840
7.

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.

8.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Miller WL, Huang N, Pandey AV, Flück CE, Agrawal V.

Ann N Y Acad Sci. 2005 Dec;1061:100-8. Review.

PMID:
16467261
9.

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.

10.

P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL.

Endocr Dev. 2008;13:67-81. doi: 10.1159/000134826. Review.

PMID:
18493134
11.

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.

12.

P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.

Miller WL.

Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Review.

PMID:
23092891
13.

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):38-50. doi: 10.1016/j.jsbmb.2016.04.003. Epub 2016 Apr 8.

PMID:
27068427
14.

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.

Flück CE, Nicolo C, Pandey AV.

Fundam Clin Pharmacol. 2007 Aug;21(4):399-410. Review.

PMID:
17635179
15.

Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development.

Panda SP, Guntur AR, Polusani SR, Fajardo RJ, Gakunga PT, Roman LJ, Masters BS.

PLoS One. 2013 Sep 25;8(9):e75638. doi: 10.1371/journal.pone.0075638. eCollection 2013.

16.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):578-85.

17.

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR.

Am J Med Genet A. 2006 Sep 1;140A(17):1797-803.

PMID:
16906539
18.

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
19.

Biochemical analysis of mutations in P450 oxidoreductase.

Pandey AV.

Biochem Soc Trans. 2006 Dec;34(Pt 6):1186-91.

PMID:
17073782
20.

NADPH P450 oxidoreductase: structure, function, and pathology of diseases.

Pandey AV, Flück CE.

Pharmacol Ther. 2013 May;138(2):229-54. doi: 10.1016/j.pharmthera.2013.01.010. Epub 2013 Jan 24. Review.

PMID:
23353702

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