Molecular Aspects of Sex Development in Mammals: New Insight for Practice

by Laura Audí, Silvano Bertelloni, Christa E. Flück
Published 2020-11-01

Oligogenic Origin of Differences of Sex Development in Humans

by Núria Camats, Christa E Flück, Laura Audí
Published 2020-03-01

Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities.

by Nesa Marti, Nadia Bouchoucha, Kay-Sara Sauter, Christa E Flück
Published 2017-01-01

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-...

by Sameer Udhane, Petra Kempna, Gaby Hofer, Primus E Mullis, Christa E Flück
Published 2013-01-01

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

by Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Published 2018-03-01

Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43.

by Maria Consolata Miletta, Vibor Petkovic, Andrée Eblé, Roland A Ammann, Christa E Flück, Primus-E Mullis
Published 2014-01-01

In Silico Structural and Biochemical Functional Analysis of a Novel <i>CYP21A2</i> Pathogenic Variant

by Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano
Published 2020-08-01

Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells.

by Andrea Hirsch, Dagmar Hahn, Petra Kempná, Gaby Hofer, Primus E Mullis, Jean-Marc Nuoffer, Christa E Flück
Published 2012-01-01

Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems

by Sameer S. Udhane, Balazs Legeza, Nesa Marti, Damian Hertig, Gaëlle Diserens, Jean-Marc Nuoffer, Peter Vermathen, Christa E. Flück
Published 2017-08-01

Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn2+ for Normal...

by Maria Consolata Miletta, Andreas Bieri, Kristin Kernland, Martin H. Schöni, Vibor Petkovic, Christa E. Flück, Andrée Eblé, Primus E. Mullis
Published 2013-01-01

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

by Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V. Pandey, Amit V. Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Luis Castaño, Laura Audi, Christa E. Flück, Christa E. Flück
Published 2018-04-01

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

by Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats
Published 2019-08-01

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

by Mónica Fernández-Cancio, Núria Camats, Christa E. Flück, Adam Zalewski, Bernhard Dick, Brigitte M. Frey, Raquel Monné, Núria Torán, Laura Audí, Amit V. Pandey
Published 2018-04-01

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

by Christa E Flück, Amit V Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E Mullis, Laura Audi
Published 2011-01-01

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations bey...

by Jana Malikova, Núria Camats, Mónica Fernández-Cancio, Karen Heath, Isabel González, María Caimarí, Miguel del Campo, Marian Albisu, Stanislava Kolouskova, Laura Audí, Christa E Flück
Published 2014-01-01

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

by Efstathios Katharopoulos, Natascia Di Lorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück
Published 2020-08-01

Variants of <i>STAR, AMH</i> and <i>ZFPM2/FOG2</i> May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of <i>NR5A1</i>

by Idoia Martínez de LaPiscina, Rana AA Mahmoud, Kay-Sara Sauter, Isabel Esteva, Milagros Alonso, Ines Costa, Jose Manuel Rial-Rodriguez, Amaia Rodríguez-Estévez, Amaia Vela, Luis Castano, Christa E. Flück
Published 2020-11-01

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

by Núria Camats, Mónica Fernández-Cancio, Laura Audí, Primus E Mullis, Francisca Moreno, Isabel González Casado, Juan Pedro López-Siguero, Raquel Corripio, José Antonio Bermúdez de la Vega, José Antonio Blanco, Christa E Flück
Published 2015-01-01

Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.

by Nasser A Dhayat, Nesa Marti, Zahraa Kollmann, Amineh Troendle, Lia Bally, Geneviève Escher, Michael Grössl, Daniel Ackermann, Belen Ponte, Menno Pruijm, Michael Müller, Bruno Vogt, Martin H Birkhäuser, Murielle Bochud, Christa E Flück, members of the SKIPOGH Study Group
Published 2018-01-01