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Liimatta, Jani; du Toit, Therina; Voegel, Clarissa D; Jääskeläinen, Jarmo; Lakka, Timo A; Flück, Christa E (2024). Multiple androgen pathways contribute to the steroid signature of adrenarche. Molecular and cellular endocrinology, 592(112293), p. 112293. Elsevier Ireland 10.1016/j.mce.2024.112293
Mathis, Déborah; du Toit, Therina; Altinkilic, Emre Murat; Stojkov, Darko; Urzì, Christian; Voegel, Clarissa D; Wu, Vincen; Zamboni, Nicola; Simon, Hans-Uwe; Nuoffer, Jean-Marc; Flück, Christa E; Felser, Andrea (2024). Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells. The journal of steroid biochemistry and molecular biology, 243(106561), p. 106561. Elsevier 10.1016/j.jsbmb.2024.106561
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
Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Response to Letter to the Editor from Hoekstra: 'Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis'. Endocrinology, 165(10) Oxford University Press 10.1210/endocr/bqae091
Frederiksen, Hanne; Johannsen, Trine Holm; Andersen, Stine Ehlern; Petersen, Jørgen Holm; Busch, Alexander Siegfried; Ljubicic, Marie Lindhardt; Fischer, Margit Bistrup; Upners, Emmie N; Hagen, Casper P; Main, Katharina M; Aksglaede, Lise; Jørgensen, Niels; Lund Kårhus, Line; Linneberg, Allan; Andersson, Anna-Maria; Flück, Christa E; Juul, Anders (2024). Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years. Clinica chimica acta, 562, p. 119852. Elsevier 10.1016/j.cca.2024.119852
Agbaje, Andrew O; Saner, Christoph; Zhang, Jie; Henderson, Mélanie; Tuomainen, Tomi-Pekka (2024). DEXA-based Fat Mass with the Risk of Worsening Insulin Resistance in Adolescents: A 9-Year Temporal and Mediation Study. The journal of clinical endocrinology and metabolism, 109(9), e1708-e1719. Oxford University Press 10.1210/clinem/dgae004
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
Øzdemir, Cagla Margit; Nielsen, Mette Mølby; Liimatta, Jani; Voegel, Clarissa D; Naamneh Elzenaty, Rawda; Wasehuus, Victor S; Lind-Holst, Marie; Ornstrup, Marie Juul; Gram, Stine Bjørn; Ousager, Lilian Bomme; Flück, Christa E; Gravholt, Claus H (2024). Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant. Endocrinology, diabetes & metabolism case reports, 2024(3) Bioscientifica 10.1530/EDM-23-0090
Lämmle, Alexander; Häberle, Johannes (2024). Dyslipidämien im Kindesalter. Pädiatrie, 23(3), pp. 24-27. Rosenfluh
Grünert, Sarah C; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Çıki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G J; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D K; Korman, Stanley H; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; ... (2024). Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Molecular genetics and metabolism, 142(2), p. 108486. Elsevier 10.1016/j.ymgme.2024.108486
Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. The journal of clinical endocrinology and metabolism, 109(6), pp. 1403-1422. Oxford University Press 10.1210/clinem/dgae008
Barata, Isabel S; Rueff, José; Kranendonk, Michel; Esteves, Francisco (2024). Pleiotropy of Progesterone Receptor Membrane Component 1 in Modulation of Cytochrome P450 Activity. Journal of xenobiotics, 14(2), pp. 575-603. MDPI 10.3390/jox14020034
Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251
Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153
Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460
Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696
Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412
Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203
Schlarb, Pauline; Büttner, Janina M.; Tittel, Sascha R.; Mönkemöller, Kirsten; Müller-Godeffroy, Esther; Boettcher, Claudia; Galler, Angela; Berger, Gabriele; Brosig, Burkhard; Holl, Reinhard W. (2024). Family structures and parents’ occupational models: its impact on children’s diabetes. Acta diabetologica, 61(2), pp. 235-244. Springer 10.1007/s00592-023-02187-9
Boettcher, Claudia; Tittel, Sascha R.; Reschke, Felix; Fritsch, Maria; Schreiner, Felix; Achenbach, Maike; Thiele-Schmitz, Susanne; Gillessen, Anton; Galler, Angela; Nellen-Hellmuth, Nicole; Golembowski, Sven; Holl, Reinhard W. (2024). Diabetes and gender incongruence: frequent mental health issues but comparable metabolic control – a DPV registry study (In Press). Frontiers in endocrinology, 14 Frontiers Research Foundation 10.3389/fendo.2023.1240104
Gohlke, Bettina; Reschke, Felix; Lanzinger, Stefanie; Boettcher, Claudia; Gemulla, Gitta; Thiele-Schmitz, Susanne; Dunstheimer, Désirée; van den Boom, Louise; Woelfle, Joachim; Holl, R W (2024). Time trends towards earlier puberty in boys and girls with type 1 diabetes: Insights from the German Diabetes Prospective Follow-up (DPV) registry, 2000 to 2021. Diabetes, obesity & metabolism, 26(1), pp. 293-300. Wiley 10.1111/dom.15315
Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941
Martinez, Stephanie E; Pandey, Amit Vikram; Perez Jimenez, Tania E; Zhu, Zhaohui; Court, Michael H (2024). Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization. PLoS ONE, 19(e0297191) Public Library of Science 10.1371/journal.pone.0297191
Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314
Pignatti, Emanuele; Kollar, Jakub; Hafele, Evelyn; Schuster, Daniela; Steele, Ronald E; Vogt, Bruno; Schumacher, Christoph; Groessl, Michael (2023). Structural and Clinical Characterization of CYP11B2 Inhibition by Dexfadrostat Phosphate. The journal of steroid biochemistry and molecular biology, 235(106409), p. 106409. Elsevier 10.1016/j.jsbmb.2023.106409
Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007
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
Liimatta, Jani; Flück, Christa E; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Jääskeläinen, Jarmo; Lakka, Timo A (2023). Effects of 2-year physical activity and dietary intervention on adrenarchal and pubertal development: the PANIC study. The journal of clinical endocrinology and metabolism, 108(12), e1603-e1613. Oxford University Press 10.1210/clinem/dgad367
Biester, Torben; Eckert, Alexander; Becker, Marianne; Boettcher, Claudia; Golembowski, Sven; Heidtmann, Bettina; Klinkert, Christoph; Müther, Silvia; Rami-Merhar, Birgit; Holl, Reinhard W (2023). Expected Basal Insulin Requirement during CSII therapy by Age Group, Sex and BMI, based on 25,718 Young People with Type 1 Diabetes in the DPV Registry. Diabetes technology & therapeutics, 25(11), pp. 774-781. Mary Ann Liebert 10.1089/dia.2023.0283
Zhang, Hanyue; Senior, Alistair M; Saner, Christoph; Olsen, Nanna J; Larsen, Sofus C; Simpson, Stephen J; Raubenheimer, David; Heitmann, Berit L (2023). Evidence for the protein leverage hypothesis in preschool children prone to obesity. Clinical nutrition, 42(11), pp. 2249-2257. Elsevier 10.1016/j.clnu.2023.09.025
Zhu, Yanshan; Almeida, Flávia Jacqueline; Baillie, J Kenneth; Bowen, Asha C; Britton, Philip N; Brizuela, Martin Eduardo; Buonsenso, Danilo; Burgner, David; Chew, Keng Yih; Chokephaibulkit, Kulkanya; Cohen, Cheryl; Cormier, Stephania A; Crawford, Nigel; Curtis, Nigel; Farias, Camila G A; Gilks, Charles F; von Gottberg, Anne; Hamer, Diana; Jarovsky, Daniel; Jassat, Waasila; ... (2023). International Pediatric COVID-19 Severity Over the Course of the Pandemic. JAMA pediatrics, 177(10), pp. 1073-1084. American Medical Association 10.1001/jamapediatrics.2023.3117
Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366
Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4
Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314
Vermathen, Martina; Kämpfer, Tobias; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy. Pharmaceutics, 15(9) MDPI 10.3390/pharmaceutics15092324
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
Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0
Mansell, Toby; Bekkering, Siroon; Longmore, Danielle; Magnussen, Costan G; Vlahos, Amanda; Harcourt, Brooke E; McCallum, Zoe; Kao, Kung-Ting; Sabin, Matthew A; Juonala, Markus; Saffery, Richard; Burgner, David P; Saner, Christoph (2023). Change in adiposity is associated with change in glycoprotein acetyls but not hsCRP in adolescents with severe obesity. Obesity research & clinical practice, 17(4), pp. 343-348. Elsevier 10.1016/j.orcp.2023.08.003
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
Pappa, Angeliki; Haeusler, Martin G.; Tittel, Sascha R.; Boettcher, Claudia; Hilgard, Doerte; Knauer-Fischer, Sabine; Pavel, Marianne; Woelfle, Joachim; Holl, Reinhard W. (2023). Neuropathy in paediatric type 1 diabetes mellitus – clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry. Journal of pediatric endocrinology & metabolism, 36(7), pp. 628-635. De Gruyter 10.1515/jpem-2023-0074
Saner, Christoph; Senior, Alistair M; Zhang, Hanyue; Eloranta, Aino-Maija; Magnussen, Costan G; Sabin, Matthew A; Juonala, Markus; Janner, Marco; Burgner, David P; Schwab, Ursula; Haapala, Eero A; Heitmann, Berit L; Simpson, Stephen J; Raubenheimer, David; Lakka, Timo A (2023). Evidence for protein leverage in a general population sample of children and adolescents. European journal of clinical nutrition, 77(6), pp. 652-659. Springer Nature 10.1038/s41430-023-01276-w
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
Malesevic, Stefan; Sievi, Noriane A; Baumgartner, Patrick; Roser, Katharina; Sommer, Grit; Schmidt, Dörthe; Vallelian, Florence; Jelcic, Ilijas; Clarenbach, Christian F; Kohler, Malcolm (2023). Impaired health-related quality of life in long-COVID syndrome after mild to moderate COVID-19. Scientific Reports, 13(1), p. 7717. Nature Publishing Group 10.1038/s41598-023-34678-8
Steffens, Britta; Koch, Gilbert; Gächter, Pascal; Claude, Fabien; Gotta, Verena; Bachmann, Freya; Schropp, Johannes; Janner, Marco; l'Allemand, Dagmar; Konrad, Daniel; Welzel, Tatjana; Szinnai, Gabor; Pfister, Marc (2023). Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease. Frontiers in medicine, 10, p. 1099470. Frontiers 10.3389/fmed.2023.1099470
Calvert, Clara; Brockway, Meredith Merilee; Zoega, Helga; Miller, Jessica E; Been, Jasper V; Amegah, Adeladza Kofi; Racine-Poon, Amy; Oskoui, Solmaz Eradat; Abok, Ishaya I; Aghaeepour, Nima; Akwaowo, Christie D; Alshaikh, Belal N; Ayede, Adejumoke I; Bacchini, Fabiana; Barekatain, Behzad; Barnes, Rodrigo; Bebak, Karolina; Berard, Anick; Bhutta, Zulfiqar A; Brook, Jeffrey R; ... (2023). Changes in preterm birth and stillbirth during COVID-19 lockdowns in 26 countries. Nature human behaviour, 7(4), pp. 529-544. Springer Nature 10.1038/s41562-023-01522-y
Mütze, U; Gleich, F; Barić, I; Baumgartner, M; Burlina, A; Chapman, K A; Chien, Y; Cortès-Saladelafont, E; De Laet, C; Dobbelaere, D; Eysken, F; Gautschi, M; Santer, R; Häberle, J; Joaquín, C; Karall, D; Lindner, M; Lund, A M; Mühlhausen, C; Murphy, E; ... (2023). Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium. Journal of inherited metabolic disease, 46(2), pp. 220-231. Wiley 10.1002/jimd.12572
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
Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3
Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560
Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691
Guran, Tulay; Flück Pandey, Christa Emma (2023). Introduction. Hormone research in paediatrics, 96(2), p. 115. Karger 10.1159/000519896
Flury, Monika; Eckert, Alexander; Datz, Nicolin; Kapellen, Thomas; Boettcher, Claudia; Raile, Klemens; Wolf, Johannes; Rami-Merhar, Birgit; Karges, Beate; Neu, Andreas; Holl, Reinhard Walter (2023). Entwicklung der Insulintherapie in der pädiatrischen Diabetologie-Auswertung des DPV-Registers von 1995-2021. Diabetologie und Stoffwechsel, 18(03), pp. 219-226. Thieme 10.1055/a-2004-4449
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
Mazzi, Sara; Nussbaum, Marie-Lou; Flück, Christa E. (2023). Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade. Archives of Pediatrics, 8(2) Gavin Publishers 10.29011/2575-825X.100281
Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482
Boettcher, Claudia; Burckardt, Marie-Anne; Heldt, Kathrin; Bachmann, Sara; Lang-Muritano, Mariarosaria; Hauschild, Michael; Klee, Philippe; Dirlewanger, Mirjam; Schwitzgebel, Valérie M. (2022). Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind. Swiss medical forum, 22(47), pp. 767-771. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2022.09285
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
van Iersel, Laura; Mulder, Renee L; Denzer, Christian; Cohen, Laurie E; Spoudeas, Helen A; Meacham, Lillian R; Sugden, Elaine; Schouten-van Meeteren, Antoinette Y N; Hoving, Eelco W; Packer, Roger J; Armstrong, Gregory T; Mostoufi-Moab, Sogol; Stades, Aline M; van Vuurden, Dannis; Janssens, Geert O; Thomas-Teinturier, Cécile; Murray, Robert D; Di Iorgi, Natascia; Neggers, Sebastian J C M M; Thompson, Joel; ... (2022). Hypothalamic-Pituitary and Other Endocrine Surveillance Among Childhood Cancer Survivors. Endocrine reviews, 43(5), pp. 794-823. Oxford University Press 10.1210/endrev/bnab040
Rojas Velazquez, Maria Natalia; Noebauer, Mathias; Pandey, Amit Vikram (2022). Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels. International journal of molecular sciences, 23(17) MDPI 10.3390/ijms231710141
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247
Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558
Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717
Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5
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Stefela, Alzbeta; Kaspar, Miroslav; Drastik, Martin; Holas, Ondrej; Hroch, Milos; Smutny, Tomas; Skoda, Josef; Hutníková, Miriama; Pandey, Amit Vikram; Micuda, Stanislav; Kudova, Eva; Pavek, Petr (2020). 3β-Isoobeticholic acid efficiently activates the farnesoid X receptor (FXR) due to its epimerization to 3α-epimer by hepatic metabolism. Journal of steroid biochemistry and molecular biology, 202, p. 105702. Elsevier 10.1016/j.jsbmb.2020.105702
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Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857
Sävendahl, Lars; Cooke, Rosie; Tidblad, Anders; Beckers, Dominique; Butler, Gary; Cianfarani, Stefano; Clayton, Peter; Coste, Joël; Hokken-Koelega, Anita C S; Kiess, Wieland; Kuehni, Claudia E; Albertsson-Wikland, Kerstin; Deodati, Annalisa; Ecosse, Emmanuel; Gausche, Ruth; Giacomozzi, Claudio; Konrad, Daniel; Landier, Fabienne; Pfaeffle, Roland; Sommer, Grit; ... (2020). Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study. The lancet. Diabetes & endocrinology, 8(8), pp. 683-692. Elsevier 10.1016/S2213-8587(20)30163-7
Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117
Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5
Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z
Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076
Zingg, Tanja (April 2020). Endokrine Folgen einer Krebserkrankung im Kindesalter. Leading Opinions. Hämatologie & Onkologie, 2020(4), pp. 39-42. Universimed
Camats, Núria; Flück, Christa E; Audí, Laura (2020). Oligogenic Origin of Differences of Sex Development in Humans. International journal of molecular sciences, 21(5) MDPI 10.3390/ijms21051809
van der Straaten, Saskia; Springer, Alexander; Zecic, Aleksandra; Hebenstreit, Doris; Tonnhofer, Ursula; Gawlik, Aneta; Baumert, Malgorzata; Szeliga, Kamila; Debulpaep, Sara; Desloovere, An; Tack, Lloyd; Smets, Koen; Wasniewska, Malgorzata; Corica, Domenico; Calafiore, Mariarosa; Ljubicic, Marie Lindhardt; Busch, Alexander Siegfried; Juul, Anders; Nordenström, Anna; Sigurdsson, Jon; ... (2020). The External Genitalia Score (EGS): A European multicenter validation study. The journal of clinical endocrinology and metabolism, 105(3) Oxford University Press 10.1210/clinem/dgz142
Boettcher, Claudia; Utsch, Boris; Galler, Angela; Grasemann, Corinna; Borkenstein, Martin; Denzer, Christian; Heidtmann, Bettina; Tittel, Sascha R; Holl, Reinhard W (2020). Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 Diabetes-What to Do With the Results? Frontiers in endocrinology, 11(52), p. 52. Frontiers Research Foundation 10.3389/fendo.2020.00052
Parween, Shaheena; DiNardo, Giovanna; Baj, Francesca; Zhang, Chao; Gilardi, Gianfranco; Pandey, Amit Vikram (2020). Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H. The journal of steroid biochemistry and molecular biology, 196, p. 105507. Elsevier 10.1016/j.jsbmb.2019.105507
Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008
Santi, Maristella; Boettcher, Claudia (2020). Le retard pubertaire chez la fille. Journal für gynäkologische Endokrinologie/Schweiz, 23(1), pp. 18-24. Springer 10.1007/s41975-020-00133-4
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Ribeiro de Andrade, Juliana Gabriel; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; Riedl, Stefan; ... (2019). Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis". The journal of clinical endocrinology and metabolism, 104(12), pp. 5812-5813. Oxford University Press 10.1210/jc.2019-01413
Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327
Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090
Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine (2019). Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. European journal of endocrinology, 181(5), pp. 545-564. European Society of Endocrinology 10.1530/EJE-19-0363
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Acerini, Carlo; Andrade, Juliana; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; ... (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. The journal of clinical endocrinology and metabolism, 104(10), pp. 4366-4381. Oxford University Press 10.1210/jc.2018-02752
Rodríguez Castaño, Patricia; Parween, Shaheena; Pandey, Amit Vikram (2019). Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway. International journal of molecular sciences, 20(18) MDPI 10.3390/ijms20184606
Rojas Velazquez, Maria Natalia; Parween, Shaheena; Udhane, Sameer Sopanrao; Pandey, Amit Vikram (2019). Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. Biochemical and biophysical research communications, 515(1), pp. 133-138. Elsevier 10.1016/j.bbrc.2019.05.127
Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002
Roser, Katharina; Mader, Luzius; Baenziger, Julia; Sommer, Grit; Kuehni, Claudia E.; Michel, Gisela (2019). Health-related quality of life in Switzerland: normative data for the SF-36v2 questionnaire. Quality of life research, 28(7), pp. 1963-1977. Springer 10.1007/s11136-019-02161-5
Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017
Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011
Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374
Flück, Christa E.; Pandey, Amit V. (2019). Human P450 Oxidoreductase Deficiency. In: Encyclopedia of Endocrine Diseases (Second Edition) 5 (pp. 431-443). Elsevier 10.1016/b978-0-12-801238-3.64966-8
Flück, Christa E.; Audí, Laura; Fernández-Cancio, Mónica; Sauter, Kay-Sara; Martinez de LaPiscina, Idoia; Castaño, Luis; Esteva, Isabel; Camats, Núria (2019). Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. Frontiers in genetics, 10(746), p. 746. Frontiers Media SA 10.3389/fgene.2019.00746
Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522
Parween, Shaheena; Rojas Velazquez, Maria Natalia; Udhane, Sameer Sopanrao; Kagawa, Norio; Pandey, Amit Vikram (2019). Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase. Frontiers in Pharmacology, 10, p. 1187. Frontiers 10.3389/fphar.2019.01187
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; ... (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry (In Press). Journal of inherited metabolic disease Springer 10.1007/s10545-018-0238-4
Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7
Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037
Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück Pandey, Christa Emma (2018). GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. Frontiers in endocrinology, 9, p. 142. Frontiers Research Foundation 10.3389/fendo.2018.00142
Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003
Pandey, Amit Vikram; Henderson, Colin J; Ishii, Yuji; Kranendonk, Michel; Backes, Wayne L; Zanger, Ulrich M (2017). Editorial: Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function. Frontiers in Pharmacology, 8(881), p. 881. Frontiers 10.3389/fphar.2017.00881
Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007
Flück, Christa E. (2017). Mechanisms in endocrinology: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. European journal of endocrinology, 177(3), R99-R111. BioScientifica Ltd. 10.1530/EJE-17-0128
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
Haamberg, Tanja; Troendle, Amineh; Phan-Hug, Franziska; Wyniger, Brigitte; Flück Pandey, Christa Emma (2017). Adrenogenitales Syndrom bei 21-Hydroxylase-Mangel. Swiss medical forum, 17(12), pp. 284-290. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2017.02912
Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029
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
Prasad, Manoj; Walker, Anna N; Kaur, Jasmeet; Thomas, James L; Powell, Shirley A; Pandey, Amit Vikram; Whittal, Randy M; Burak, William E; Petruzzelli, Guy; Bose, Himangshu S (2016). Endoplasmic Reticulum Stress Enhances Mitochondrial Metabolic Activity in Mammalian Adrenals and Gonads. Molecular and cellular biology, 36(24), pp. 3058-3074. American Society for Microbiology 10.1128/MCB.00411-16
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
Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit Vikram; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. Molecular diagnosis & therapy, 20(2), pp. 125-133. Springer 10.1007/s40291-015-0182-z
Udhane, Sameer S; Parween, Shaheena; Pandey, Amit Vikram (2016). Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase. Hormone research in paediatrics, 86(Suppl. 1), p. 267. Karger 10.1159/000449142
Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265
Zhuang, Lei; Pandey, Amit Vikram; Villiger, Peter; Trueb, Beat (2015). Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochimica et biophysica acta - molecular cell research, 1853(10 Pt A), pp. 2273-2285. Elsevier 10.1016/j.bbamcr.2015.05.027
Udhane, Sameer S; Pandey, Amit Vikram (1 September 2015). Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis (Unpublished). In: Annual Meeting of European Society for Paediatric Endocrinology ESPE.
Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132
Pandey, Amit Vikram; Flück Pandey, Christa Emma (1 April 2015). Altered Drug and Steroid Metabolism by Mutations in Human NADPH Cytochrome P450 Reductase. FASEB journal, 29(Suppl 1), p. 522. Federation of American Societies for Experimental Biology
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
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Flück Pandey, Christa Emma; Pandey, Amit Vikram (2014). Steroidogenesis of the testis - new genes and pathways. Annales d'endocrinologie, 75(2), pp. 40-47. Elsevier 10.1016/j.ando.2014.03.002
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
von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044
Pandey, Amit Vikram; Sproll, Patrick (2014). Pharmacogenomics of human P450 oxidoreductase. Frontiers in Pharmacology, 5, p. 103. Frontiers 10.3389/fphar.2014.00103
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
Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089
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
Pandey, Amit Vikram; Flück, Christa E (2013). NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacology & therapeutics, 138(2), pp. 229-54. Amsterdam: Elsevier 10.1016/j.pharmthera.2013.01.010
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
Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691
Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21
Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169
Pandey, Amit Vikram (2012). Bioinformatics tools and databases for the study of human growth hormone. In: Developmental Biology of GH Secretion, Growth and Treatment. Endocrine Development: Vol. 23 (pp. 71-85). Basel: Karger 10.1159/000341755
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 Pandey, Christa Emma; Mallet, Delphine; Hofer, Gaby; Samara-Boustani, Dinane; Leger, Juliane; Polak, Michel; Morel, Yves; Pandey, Amit Vikram (2011). Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency. Biochemical and biophysical research communications, 412(4), pp. 572-577. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2011.08.001
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
Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024
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
Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245
Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172
Pandey, Amit Vikram; Miller, Walter L (2006). Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. Journal of biological chemistry, 280(14), pp. 13265-13271. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M414673200
Pandey, A V (2006). Biochemical analysis of mutations in P450 oxidoreductase. Biochemical Society transactions, 34(Pt 6), pp. 1186-1191. London: Portland Press 10.1042/BST0341186
Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617
Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874
Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber
Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag
Huang, Ningwu; Pandey, Amit Vikram; Agrawal, Vishal; Reardon, William; Lapunzina, Pablo D.; Mowat, David; Jabs, Ethylin Wang; Van Vliet, Guy; Sack, Joseph; Flück Pandey, Christa Emma; Miller, Walter L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American journal of human genetics, 76(5), pp. 729-749. Cell Press 10.1086/429417
Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838
Flück, Christa E.; Yaworsky, Dustin C.; Miller, Walter L. (2005). Effects of anticonvulsants on human p450c17 (17alpha-hydroxylase/17,20 lyase) and 3beta-hydroxysteroid dehydrogenase type 2. Epilepsia, 46(3), pp. 444-448. Wiley-Blackwell 10.1111/j.0013-9580.2005.38404.x
Pandey, Amit Vikram; Flück Pandey, Christa Emma; Huang, Ningwu; Tajima, Toshihiro; Fujieda, Kenji; Miller, Walter L. (2004). P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocrine research, 30(4), pp. 881-888. Informa Healthcare 10.1081/ERC-200044134
Flück, Christa; Yaworski, D.; Miller, W. L. (2004). Effect of anticonvulsants on activities of P450c17 and 3betaHSDII. Endocrine research, 30(4), pp. 955-956. Informa Healthcare
Miller, Walter L.; Huang, Ningwu; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2004). P450 oxidoreductase deficiency. Lancet, 364(9446), p. 1663. Elsevier 10.1016/S0140-6736(04)17344-3
Flück, Christa; Miller, Walter L. (2004). GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Molecular endocrinology, 18(5), pp. 1144-1157. Endocrine Society 10.1210/me.2003-0342
Flück Pandey, Christa Emma; Tajima, Toshihro; Pandey, Amit Vikram; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature genetics, 36(3), pp. 228-230. Nature America 10.1038/ng1300
Pandey, Amit Vikram; Babbarwal, Vinod K.; Okoyeh, Jude N.; Joshi, Ratan M.; Puri, Sunil K.; Singh, Ram L.; Chauhan, Virander S. (2003). Hemozoin formation in malaria: a two-step process involving histidine-rich proteins and lipids. Biochemical and biophysical research communications, 308(4), pp. 736-743. Academic Press 10.1016/S0006-291X(03)01465-7
Flück, Christa; Miller, Walter L.; Auchus, Richard J. (2003). The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway. Journal of clinical endocrinology and metabolism, 88(8), pp. 3762-3766. Endocrine Society 10.1210/jc.2003-030143
Pandey, Amit Vikram; Mellon, Synthia H.; Miller, Walter L. (2003). Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. Journal of biological chemistry, 278(5), pp. 2837-2344. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M209527200
Flück, Christa; Martens, John W. M.; Conte, Felix A.; Miller, Walter L. (2002). Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. Journal of clinical endocrinology and metabolism, 87(9), pp. 4318-4323. Endocrine Society 10.1210/jc.2002-020501
Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.
Pandey, Amit Vikram; Bisht, Himani; Babbarwal, Vinod K.; Srivastava, Jaya; Pandey, Kailash C.; Chauhan, Virander S. (2001). Mechanism of malarial haem detoxification inhibition by chloroquine. Biochemical journal, 355(Pt 2), pp. 333-338. Portland Press 10.1042/bj3550333
Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica
Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.
Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135
Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272
Pandey, Amit Vikram; Tekwani, Babu L.; Singh, Ram L.; Chauhan, Virander S. (1999). Artemisinin, an endoperoxide antimalarial, disrupts the hemoglobin catabolism and heme detoxification systems in malarial parasite. Journal of biological chemistry, 274(27), pp. 19383-19388. American Society for Biochemistry and Molecular Biology 10.1074/jbc.274.27.19383
Pandey, Amit Vikram; Singh, N.; Tekwani, B. L.; Puri, S. K.; Chauhan, V. S. (1999). Assay of β-hematin formation by malaria parasite. Journal of pharmaceutical and biomedical analysis, 20(1-2), pp. 203-207. Pergamon Press 10.1016/S0731-7085(99)00021-7
Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681
Pandey, Amit Vikram; Joshi, S. K.; Tekwani, B. L.; Chauhan, V. S. (1999). A colorimetric assay for heme in biological samples using 96-well plates. Analytical biochemistry, 268(1), pp. 159-161. Elsevier 10.1006/abio.1998.2997
Pandey, Amit Vikram; Joshi, Ratanmani; Tekwani, Babu L.; Singh, Ram L.; Chauhan, Virender S. (1997). Synthetic peptides corresponding to a repetitive sequence of malarial histidine rich protein bind haem and inhibit haemozoin formation in vitro. Molecular and biochemical parasitology, 90(1), pp. 281-287. Elsevier 10.1016/S0166-6851(97)00161-8
Pandey, Amit Vikram; Tekwani, Babu L. (1997). Depolymerization of malarial hemozoin: a novel reaction initiated by blood schizontocidal antimalarials. FEBS letters, 402(2-3), pp. 236-240. Elsevier 10.1016/S0014-5793(96)01536-0
Pandey, Amit Vikram; Tekwani, Babu L. (1996). Formation of haemozoin/β-haematin under physiological conditions is not spontaneous. FEBS letters, 393(2-3), pp. 189-192. Elsevier 10.1016/0014-5793(96)00881-2
Pandey, Amit Vikram; Tekwani, Babu L. (1996). Identification and quantification of haemozoin: Some additional facts. Parasitology today, 12(9), p. 370. Elsevier 10.1016/0169-4758(96)80825-8
