Pathogenesis of disorders caused by human P450 oxidoreductase mutations

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Number of items: 13.

2017

Udhane, Sameer Sopanrao; Parween, Shaheena; Kagawa, Norio; Pandey, Amit Vikram (2017). Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase. Frontiers in Pharmacology, 8(580), p. 580. Frontiers 10.3389/fphar.2017.00580

Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003

Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 64-70. Elsevier 10.1016/j.jsbmb.2016.03.031

2016

Parween, Shaheena; Boulez, Florence Roucher; Flück Pandey, Christa Emma; Lienhardt-Roussie, Anne; Mallet, Delphine; Morel, Yves; Pandey, Amit Vikram (2016). P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation. The Journal of clinical endocrinology and metabolism, 101(12), jc.2016-1928. The Endocrine Society 10.1210/jc.2016-1928

Zalewski, Adam; Ma, Nina S; Legeza, Balazs; Renthal, Nora; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2016). Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. The Journal of clinical endocrinology and metabolism, 101(9), pp. 3409-3418. Endocrine Society 10.1210/jc.2016-2124

Udhane, Sameer Sopanrao; Dick, Bernhard; Hu, Qingzhong; Hartmann, Rolf W; Pandey, Amit Vikram (2016). Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis. Biochemical and biophysical research communications, 477(4), pp. 1005-1010. Academic Press 10.1016/j.bbrc.2016.07.019

2015

Hu, Liyan; Pandey, Amit Vikram; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of inherited metabolic disease, 38(5), pp. 815-827. Springer 10.1007/s10545-014-9807-3

2014

Flück, Christa; Pandey, Amit Vikram (2014). P450 oxidoreductase deficiency (PORD). In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 125-143). Elsevier 10.1016/B978-0-12-416006-4.00010-7

Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit Vikram; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück Pandey, Christa Emma (2014). Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Molecular and cellular endocrinology, 390(1-2), pp. 8-17. Elsevier Ireland 10.1016/j.mce.2014.03.008

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück Pandey, Christa Emma (2014). STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clinical endocrinology, 80(2), pp. 191-199. Blackwell Scientific Publications 10.1111/cen.12293

Balmer, Cécile; Pandey, Amit Vikram; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human mutation, 35(1), pp. 27-35. Wiley-Blackwell 10.1002/humu.22469

2013

Biason-Lauber, Anna; Pandey, Amit Vikram; Miller, Walter L.; Flück, Christa (2013). Marsupial pathway in humans. In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 215-224). New York: Elsevier 10.1016/B978-0-12-416006-4.00015-6

Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128

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