Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 131

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.

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.

5.

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
6.

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
7.

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
8.

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
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.

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.

11.

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Ko JM, Cheon CK, Kim GH, Yoo HW.

Eur J Pediatr. 2009 Jul;168(7):877-80. doi: 10.1007/s00431-008-0849-0. Epub 2008 Oct 14.

PMID:
18853185
12.

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
13.

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
14.

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.

15.

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
16.

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
17.

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.

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.

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.

20.

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL.

J Clin Endocrinol Metab. 2009 Dec;94(12):4992-5000. doi: 10.1210/jc.2009-1460. Epub 2009 Oct 16.

Items per page

Supplemental Content

Write to the Help Desk