Mullis, Primus E

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

Grunt, Sebastian; Steinlin, Maja; Weisstanner, Christian; Schöning, Martin; Mullis, Primus E; Flück, Christa E (2013). Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight. Hormone research in paediatrics, 80(1), pp. 57-63. Basel: Karger 10.1159/000348515

Ranke, Michael B; Lindberg, Anders; Mullis, Primus E; Geffner, Mitchell E; Tanaka, Toshi; Cutfield, Wayne S; Tauber, Maïthé; Dunger, David (2013). Towards optimal treatment with growth hormone in short children and adolescents: evidence and theses. Hormone research in paediatrics, 79(2), pp. 51-67. Basel: Karger 10.1159/000347121

Renehan, Andrew G; Solomon, Mattea; Zwahlen, Marcel; Morjaria, Reena; Whatmore, Andrew; Audí, Laura; Binder, Gerhard; Blum, Werner; Bougnères, Pierre; Santos, Christine Dos; Carrascosa, Antonio; Hokken-Koelega, Anita; Jorge, Alexander; Mullis, Primus E; Tauber, Maïthé; Patel, Leena; Clayton, Peter E (2012). Growth hormone receptor polymorphism and growth hormone therapy response in children: a bayesian meta-analysis. American journal of epidemiology, 175(9), pp. 867-877. Cary, N.C.: Oxford University Press 10.1093/aje/kwr408

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Nuoffer, Jean-Marc; Mullis, Primus E; Flück, Christa E (2012). Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology, 153(9), pp. 4354-66. Chevy Chase, Md.: Endocrine Society 10.1210/en.2012-1145

Hagemann, Kerstin; Zanolari Calderari, Maura; Perren, Aurel; Cree, Ian; Mullis, Primus E; Flück, Christa E (2011). Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis. Hormones - international journal of endocrinology and metabolism, 10(4), pp. 317-25. Athens: Hellenic Endocrine Soc.

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

Steinberg, Florian; Zhuang, Lei; Beyeler, Michael; Kälin, Roland E; Mullis, Primus E; Brändli, André W; Trueb, Beat (2010). The FGFRL1 receptor is shed from cell membranes, binds fibroblast growth factors (FGFs), and antagonizes FGF signaling in Xenopus embryos. Journal of biological chemistry, 285(3), pp. 2193-202. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/jbc.M109.058248

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

Petkovic, Vibor; Godi, Michela; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Robinson, Iain C; Mullis, Primus E (2010). Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. Endocrinology, 151(6), pp. 2650-8. Chevy Chase, Md.: Endocrine Society 10.1210/en.2009-1280

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

Lochmatter, Didier; Strom, Molly; Eblé, André; Petkovic, Vibor; Flück, Christa E; Bidlingmaier, Martin; Robinson, Iain C; Mullis, Primus E (2010). Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells. Endocrinology, 151(9), pp. 4400-9. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0196

Kempná, Petra; Hirsch, Andrea; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2010). Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells. Endocrinology, 151(8), pp. 3686-96. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0093

Peters, Catherine; Langham, Shirley; Mullis, Primus E; Dattani, Mehul T (2010). Use of combined liothyronine and thyroxine therapy for consumptive hypothyroidism associated with hepatic haemangiomas in infancy. Hormone research in paediatrics, 74(2), pp. 149-52. Basel: Karger 10.1159/000281884

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

Missaghian, Elika; Kempná, Petra; Dick, Bernhard; Hirsch, Andrea; Alikhani-Koupaei, Rasoul; Jégou, Bernard; Mullis, Primus E; Frey, Brigitte M; Flück, Christa E (2009). Role of DNA methylation in the tissue-specific expression of the CYP17A1 gene for steroidogenesis in rodents. Journal of endocrinology, 202(1), pp. 99-109. Bristol: BioScientifica 10.1677/JOE-08-0353

Alatzoglou, Kyriaki S; Turton, James P; Kelberman, Daniel; Clayton, Peter E; Mehta, Ameeta; Buchanan, Charles; Aylwin, Simon; Crowne, Elisabeth C; Christesen, Henrik T; Hertel, Niels T; Trainer, Peter J; Savage, Martin O; Raza, Jamal; Banerjee, Kausik; Sinha, Sunil K; Ten, Svetlana; Mushtaq, Talat; Brauner, Raja; Cheetham, Timothy D; Hindmarsh, Peter C; ... (2009). Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. Journal of clinical endocrinology and metabolism, 94(9), pp. 3191-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2008-2783

Mohamadi, Ali; Martari, Marco; Holladay, Cindy D; Phillips, John A; Mullis, Primus E; Salvatori, Roberto (2009). Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. Journal of clinical endocrinology and metabolism, 94(7), pp. 2565-70. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-0512

Mohaupt, Markus (2008). The role of adrenal steroidogenesis in arterial hypertension. In: Mullis, Primus E; Flück, Christa E; Miller, Walter L (eds.) Disorders of the Human Adrenal Cortex. Endocrine Development: Vol. 13 (pp. 133-144). Basel: Karger 10.1159/000134830

Salemi, Souzan; Yousefi, Shida; Lochmatter, Didier; Eblé, Andrée; Deladoëy, Johnny; Robinson, Iain C A F; Simon, Hans-Uwe; Mullis, Primus E (2007). Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis. Endocrinology, 148(1), pp. 45-53. Chevy Chase, Md.: Endocrine Society 10.1210/en.2006-0772

Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Pioglitazone inhibits androgen production in NCI-H295R cells by regulating gene expression of CYP17 and HSD3B2. Molecular pharmacology, 71(3), pp. 787-98. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/mol.106.028902

Petkovic, Vibor; Salemi, Souzan; Vassella, Erik; Karamitopoulou-Diamantis, Evanthia; Meinhardt, Udo J; Flück, Christa E; Mullis, Primus E (2007). Leydig-cell tumour in children: variable clinical presentation, diagnostic features, follow-up and genetic analysis of four cases. Hormone research, 67(2), pp. 89-95. Basel: Karger 10.1159/000096356

Petkovic, Vibor; Thevis, Mario; Lochmatter, Didier; Besson, Amélie; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity. European journal of endocrinology, 157 Suppl 1, S67-74. Bristol: BioScientifica Ltd.

Petkovic, Vibor; Lochmatter, Didier; Turton, James; Clayton, Peter E; Trainer, Peter J; Dattani, Mehul T; Eblé, Andrée; Robinson, Iain C; Flück, Christa E; Mullis, Primus E (2007). Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. Journal of clinical endocrinology and metabolism, 92(11), pp. 4427-35. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-0857

Petkovic, Vibor; Besson, Amélie; Thevis, Mario; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. Journal of clinical endocrinology and metabolism, 92(8), pp. 2893-901. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2006-2238

Samandari, Elika; Kempná, Petra; Nuoffer, Jean-Marc; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities. Journal of endocrinology, 195(3), pp. 459-72. Bristol: BioScientifica 10.1677/JOE-07-0166

Mullis, Primus E (2007). Genetics of growth hormone deficiency. Endocrinology and metabolism clinics of North America, 36(1), pp. 17-36. Philadelphia, Pa.: Elsevier 10.1016/j.ecl.2006.11.010

Salemi, Souzan; Yousefi, Shida; Eblé, Andrée; Deladoëy, Johnny; Mullis, Primus E (2006). Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis. Hormone research, 65(3), pp. 132-41. Basel: Karger 10.1159/000091607

Christ, Emanuel R; Zehnder, Monica; Boesch, Chris; Trepp, Roman; Mullis, Primus E; Diem, Peter; Décombaz, Jacques (2006). The effect of increased lipid intake on hormonal responses during aerobic exercise in endurance-trained men. European journal of endocrinology, 154(3), pp. 397-403. Bristol: BioScientifica Ltd. 10.1530/eje.1.02106

Fintini, Danilo; Salvatori, Roberto; Salemi, Souzan; Otten, Barto; Ubertini, Graziamaria; Cambiaso, Paola; Mullis, Primus E (2006). Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. Hormone research, 65(2), pp. 76-82. Basel: Karger 10.1159/000091033