Zobrazeno 1 - 10
of 218
pro vyhledávání: '"Christa E. Flück"'
Autor:
Rawda Naamneh Elzenaty, Chrysanthi Kouri, Idoia Martinez de Lapiscina, Kay-Sara Sauter, Francisca Moreno, Núria Camats-Tarruella, Christa E. Flück
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10109 (2024)
Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of phenotypes across individuals with disorders of sex development (DSDs). Oligo
Externí odkaz:
https://doaj.org/article/0492857898e14b29818dd7e79d180155
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E. Flück, Amit V. Pandey
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3143 (2024)
Rabson–Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-year-old gir
Externí odkaz:
https://doaj.org/article/1a966dda846b4c77a79ad9bbe8da962d
Autor:
Cécily Lucas, Kay-Sara Sauter, Michael Steigert, Delphine Mallet, James Wilmouth, Julie Olabe, Ingrid Plotton, Yves Morel, Daniel Aeberli, Franca Wagner, Hans Clevers, Amit V. Pandey, Pierre Val, Florence Roucher-Boulez, Christa E. Flück
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 4 (2023)
Disorders of isolated mineralocorticoid deficiency, which cause potentially life-threatening salt-wasting crisis early in life, have been associated with gene variants of aldosterone biosynthesis or resistance; however, in some patients no such varia
Externí odkaz:
https://doaj.org/article/7c038c7fdaca42ca83fa509abb64c789
Autor:
Insa Korten, Elisabeth Kieninger, Linn Krueger, Marina Bullo, Christa E. Flück, Philipp Latzin, Carmen Casaulta, Claudia Boettcher
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundThe effect of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on glucose tolerance and/or cystic-fibrosis-related diabetes (CFRD) is not well understood. We performed an observational study on the short-term effects of ELX/TEZ/IVA on glucose
Externí odkaz:
https://doaj.org/article/c53d8597246a4f28a9fc85406245ff06
Publikováno v:
Journal of Diabetes Research, Vol 2022 (2022)
Introduction. Lower HbA1c targets and increasingly complex diabetes management with substantially increasing costs dominate today’s type 1 diabetes therapy in children and adolescents. Objective. To evaluate metabolic control in children and adoles
Externí odkaz:
https://doaj.org/article/304dce15a1544449b539e75a055cbe44
Autor:
Sameer S. Udhane, Balazs Legeza, Nesa Marti, Damian Hertig, Gaëlle Diserens, Jean-Marc Nuoffer, Peter Vermathen, Christa E. Flück
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Abstract Metformin is an antidiabetic drug, which inhibits mitochondrial respiratory-chain-complex I and thereby seems to affect the cellular metabolism in many ways. It is also used for the treatment of the polycystic ovary syndrome (PCOS), the most
Externí odkaz:
https://doaj.org/article/2e71df7527134047b6b90c88fc3b0776
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 23, p 9146 (2020)
Disorders (or differences) of sex development (DSD) are congenital conditions characterized by atypical development of genetic, gonadal or phenotypic sex [...]
Externí odkaz:
https://doaj.org/article/cbae2b9a4030464a88384e4621d6f2e5
Autor:
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
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 22, p 8554 (2020)
Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the i
Externí odkaz:
https://doaj.org/article/2bb1eafc7a2f441f9424248c71a6a3e7
Autor:
Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 6185 (2020)
Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone exces
Externí odkaz:
https://doaj.org/article/7fb218f7a74642a6ada2c3a2879fc31b