cytochrome P450; P450 oxidoreductase; POR; CPR; steroidogenesis; drug metabolism
Camats N, Pandey A V, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz M T, Gracia R, Nistal M, Castaño L, Mullis P E, Carrascosa A, Audí L, Flück C E (2012), Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals., in
The Journal of clinical endocrinology and metabolism, 97(7), 1294-306.
Petkovic Vibor, Eblé Andrée, Pandey Amit V, Betta Marta, Mella Patrizia, Flück Christa E, Buzi Fabio, Mullis Primus E (2011), A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome., in
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the Inte, 21(3), 160-6.
Flück Christa E, Pandey Amit V, Dick Bernhard, Camats Núria, Fernández-Cancio Mónica, Clemente María, Gussinyé Miquel, Carrascosa Antonio, Mullis Primus E, Audi Laura (2011), Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia., in
PloS one, 6(5), 20178-20178.
Flück Christa E, Pandey Amit V (2011), Clinical and biochemical consequences of p450 oxidoreductase deficiency., in
Endocrine development, 20, 63-79.
Flück Christa E, Mallet Delphine, Hofer Gaby, Samara-Boustani Dinane, Leger Juliane, Polak Michel, Morel Yves, Pandey Amit V (2011), Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency., in
Biochemical and biophysical research communications, 412(4), 572-7.
Hirsch Andrea, Meimaridou Eirini, Fernandez-Cancio Monica, Pandey Amit V, Clemente María, Audi Laura, Clark Adrian J L, Flück Christa E (2011), Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity., in
The Journal of clinical endocrinology and metabolism, 96(1), 65-72.
Pandey Amit V, Mullis PE (2011), Molecular genetics and bioinformatics methods for diagnosis of endocrine disorders., Karger Medical and Scientific Publishers, Basel, 32-52.
Flück Christa E, Meyer-Böni Monika, Pandey Amit V, Kempná Petra, Miller Walter L, Schoenle Eugen J, Biason-Lauber Anna (2011), Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation., in
American journal of human genetics, 89(2), 201-18.
Pandey Amit V, Flück Christa E, Mullis Primus E (2010), Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase., in
Biochemical and biophysical research communications, 400(3), 374-8.
Petkovic Vibor, Godi Michela, Pandey Amit V, Lochmatter Didier, Buchanan Charles R, Dattani Mehul T, Eblé Andrée, Flück Christa E, Mullis Primus E (2010), Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action., in
The Journal of clinical endocrinology and metabolism, 95(2), 731-9.
Flück Christa E, Mullis Primus E, Pandey Amit V (2010), Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism., in
Biochemical and biophysical research communications, 401(1), 149-53.
Nicolo Catherine, Flück Christa E, Mullis Primus E, Pandey Amit V (2010), Restoration of mutant cytochrome P450 reductase activity by external flavin., in
Molecular and cellular endocrinology, 321(2), 245-52.
Flück Christa E, Mullis Primus E, Pandey Amit V (2009), Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation., in
Molecular and cellular endocrinology, 313(1-2), 17-22.
Sim Sarah C, Miller Walter L, Zhong Xiao-Bo, Arlt Wiebke, Ogata Tsutomu, Ding Xinxin, Wolf C Roland, Flück Christa E, Pandey Amit V, Henderson Colin J, Porter Todd D, Daly Ann K, Nebert Daniel W, Ingelman-Sundberg Magnus (2009), Nomenclature for alleles of the cytochrome P450 oxidoreductase gene., in
Pharmacogenetics and genomics, 19(7), 565-6.
Flück Christa E, Pandey Amit V, Huang Ningwu, Agrawal Vishal, Miller Walter L (2008), P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia., in
Endocrine development, 13, 67-81.
Flück Christa E, Nicolo Catherine, Pandey Amit V (2007), Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase., in
Fundamental & clinical pharmacology, 21(4), 399-410.
Pandey Amit V, Kempná Petra, Hofer Gaby, Mullis Primus E, Flück Christa E (2007), Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase., in
Molecular endocrinology, 21(10), 2579-2595.
Pepe Carolina M, Saraco Nora I, Baquedano Maria Sonia, Guercio Gabriela, Vaiani Elisa, Marino Roxana, Pandey Amit V, Flück Christa E, Rivarola Marco A, Belgorosky Alicia (2007), The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues., in
Clinical endocrinology, 67(5), 698-705.