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Altinkilic, Emre Murat; Augsburger, Philipp; Pandey, Amit V; Flueck, Christa (2024). Clinical spectrum of human STAR variants and their genotype-phenotype correlation. Journal of endocrinology, 262(3) BioScientifica 10.1530/JOE-24-0078
Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
Pignatti, Emanuele; Slone, Jesse; Gómez Cano, María Ángeles; Campbell, Teresa Margaret; Vu, Jimmy; Sauter, Kay-Sara; Pandey, Amit V; Martínez-Azorín, Francisco; Alonso-Riaño, Marina; Neilson, Derek E; Longo, Nicola; du Toit, Therina; Voegel, Clarissa D; Huang, Taosheng; Flück, Christa E (2024). FDXR variants cause adrenal insufficiency and atypical sexual development. JCI insight, 9(14) JCI Insight 10.1172/jci.insight.179071
Yakubu, Jibira; Pandey, Amit V (2024). Innovative Delivery Systems for Curcumin: Exploring Nanosized and Conventional Formulations. Pharmaceutics, 16(5) MDPI 10.3390/pharmaceutics16050637
Rojas Velazquez, Maria Natalia; Therkelsen, Søren; Pandey, Amit V (2023). Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays. Biomolecules, 13(12) MDPI 10.3390/biom13121728
Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Wróbel, Tomasz M; Jørgensen, Flemming Steen; Pandey, Amit V; Grudzińska, Angelika; Sharma, Katyayani; Yakubu, Jibira; Björkling, Fredrik (2023). Non-steroidal CYP17A1 Inhibitors: Discovery and Assessment. Journal of medicinal chemistry, 66(10), pp. 6542-6566. American Chemical Society 10.1021/acs.jmedchem.3c00442
Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915
Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rossetti, Maria Lucia Rosa; Pandey, Amit V (2022). Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. Frontiers in Pharmacology, 13, p. 931089. Frontiers 10.3389/fphar.2022.931089
Verma, Sonia; Chakraborti, Soumyananda; Singh, Om P.; Pande, Veena; Dixit, Rajnikant; Pandey, Amit V; Pandey, Kailash C. (2022). Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family. Frontiers in endocrinology, 13, p. 981090. Frontiers Research Foundation 10.3389/fendo.2022.981090
Sharma, Katyayani; Lanzilotto, Angelo; Pandey, Amit V (2022). Essential oil metabolites can regulate adrenal androgen production by inhibition of CYP17A1 activities. FASEB journal, 36(S1) Federation of American Societies for Experimental Biology 10.1096/fasebj.2022.36.S1.R5889
Rojas Velazquez, Maria Natalia; Noebauer, Mathias; Pandey, Amit V (2022). Loss of protein stability and function caused by a single point mutation (P228L) in the Cytochrome P450 Oxidoreductase. FASEB journal, 36(S1) Federation of American Societies for Experimental Biology 10.1096/fasebj.2022.36.S1.R5860
Praveen, Valiyaparambil Pavithran; Ladjouze, Asmahane; Sauter, Kay-Sara; Pulickal, Annie; Katharopoulos, Efstathios; Trippel, Mafalda; Perren, Aurel; Pandey, Amit V; Flück, Christa E (2020). Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. Journal of the Endocrine Society, 4(4), bvaa030. Oxford University Press 10.1210/jendso/bvaa030
Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847
Biason-Lauber, Anna; Miller, Walter L; Pandey, Amit V; Flück, Christa E (2013). Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation. Molecular and cellular endocrinology, 371(1-2), pp. 124-32. Shannon: Elsevier Ireland 10.1016/j.mce.2013.01.017
Riddick, David S; Ding, Xinxin; Wolf, C Roland; Porter, Todd D; Pandey, Amit V; Zhang, Qing-Yu; Gu, Jun; Finn, Robert D; Ronseaux, Sebastien; McLaughlin, Lesley A; Henderson, Colin J; Zou, Ling; Flück, Christa E (2013). NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology. Drug metabolism and disposition, 41(1), pp. 12-23. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/dmd.112.048991
Flück, Christa E; Pandey, Amit V (2011). Clinical and biochemical consequences of p450 oxidoreductase deficiency. Endocrine development, 20, pp. 63-79. Basel: Karger
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. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056
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. American journal of human genetics, 89(2), pp. 201-18. New York, N.Y.: Cell Press 10.1016/j.ajhg.2011.06.009
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. PLoS ONE, 6(5), e20178. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0020178
Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002
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. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247
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. Biochemical and biophysical research communications, 401(1), pp. 149-53. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.09.035
Pandey, Amit V; Flück, Christa E; Mullis, Primus-Eugen (2010). Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. Biochemical and biophysical research communications, 400(3), pp. 374-8. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.08.072
Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2009). Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation. Molecular and cellular endocrinology, 313(1-2), pp. 17-22. Shannon: Elsevier Ireland 10.1016/j.mce.2009.09.001
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. Pharmacogenetics and genomics, 19(7), pp. 565-6. London: Lippincott Williams & Wilkins 10.1097/FPC.0b013e32832af5b7
Flück, Christa E; Pandey, Amit V; Huang, Ningwu; Agrawal, Vishal; Miller, Walter L (2008). P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocrine development, 13, pp. 67-81. Basel: Karger 10.1159/000134826
Hooley, Elizabeth; Papagrigoriou, Evangelos; Navdaev, Alexei; Pandey, Amit V; Clemetson, Jeannine M; Clemetson, Kenneth J; Emsley, Jonas (2008). The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure. Biochemistry, 47(30), pp. 7831-7837. Washington, D.C.: American Chemical Society 10.1021/bi800528t
Flück, Christa E; Nicolo, Catherine; Pandey, Amit V (2007). Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase. Fundamental & clinical pharmacology, 21(4), pp. 399-410. Oxford: Blackwell Science 10.1111/j.1472-8206.2007.00520.x
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. Clinical endocrinology, 67(5), pp. 698-705. Oxford: Blackwell Scientific Publications 10.1111/j.1365-2265.2007.02948.x
