Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Ute I. Scholl"'
Autor:
Shiwei Zhou, Laura Johanna Lenk, Yawei Gao, Yuhui Wang, Xiaoe Zhao, Menghao Pan, Shuhong Huang, Kexin Sun, Peter Kalds, Qi Luo, Simon Lillico, Tad Sonstegard, Ute I. Scholl, Baohua Ma, Bjoern Petersen, Yulin Chen, Xiaolong Wang
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background Rewriting the genomes of living organisms has been a long-standing aim in the biological sciences. The revelation of the CRISPR/Cas9 technology has revolutionized the entire biological field. Since its emergence, this technology h
Externí odkaz:
https://doaj.org/article/fe6acaf67d374afcb1799e84d928d22f
Autor:
Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Somatic gain-of-function mutations in the L-type calcium channel CaV1.3 (CACNA1D gene) cause adrenal aldosterone-producing adenomas and micronodules. De novo germline mutations are found in a syndrome of primary aldosteronism, seizures, and neurologi
Externí odkaz:
https://doaj.org/article/0f1408c346d041e89ff1b8c5e1468840
Publikováno v:
BMC Research Notes, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Objective Fibroblast growth factor receptor (FGFR) 2 regulates the development of the adrenal gland in mice. In addition, FGFR2-mediated signalling has been shown to prevent apoptosis and to enhance proliferation in adrenocortical precursor
Externí odkaz:
https://doaj.org/article/3f56f4cbb64c4636beca1791728db982
Autor:
Paul-Emmanuel Vanderriele, Qing Wang, Anne-Marie Mérillat, Frédérique Ino, Gilles Aeschlimann, Xavier Ehret, David Ancin Del Olmo, Verónica Ponce de León, Ute I. Scholl, Denise V. Winter, Alex Odermatt, Edith Hummler, Sophia N. Verouti
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13218 (2021)
Mutations within the glucocorticoid receptor (GR) gene locus lead to glucocorticoid resistance which is characterized by several clinical symptoms such as adrenal gland hyperplasia and salt-sensitive hypertension, although the underlying mechanisms a
Externí odkaz:
https://doaj.org/article/945acb9215ae4a059d9b46ed0d9568a5
Autor:
Georgiana Constantinescu, Manuel Schulze, Mirko Peitzsch, Thomas Hofmockel, Ute I. Scholl, Tracy Ann Williams, Jacques W.M. Lenders, Graeme Eisenhofer
Publikováno v:
Clinical Chemistry and Laboratory Medicine, 60, 12, pp. 1929-1937
Clinical Chemistry and Laboratory Medicine, 60, 1929-1937
Clinical Chemistry and Laboratory Medicine, 60, 1929-1937
Objectives Mass spectrometry-based steroidomics combined with machine learning (ML) provides a potentially powerful approach in endocrine diagnostics, but is hampered by limitations in the conveyance of results and interpretations to clinicians. We a
Autor:
Annika Etges, Nicole Hellmig, Gudrun Walenda, Bassam G. Haddad, Jan-Philipp Machtens, Thomas Morosan, Lars Christian Rump, Ute I. Scholl
Publikováno v:
Nephron. 146:418-428
Introduction: Pseudohypoaldosteronism type II (PHA II) is a Mendelian disorder, featuring hyperkalemic acidosis and low plasma renin levels, typically associated with hypertension. Mutations in WNK1, WNK4, CUL3, and KLHL3 cause PHA II, with dominant
Autor:
Ambika P. Ashraf, Farahnak Assadi, Thomas M. Barber, Filippo Ceccato, Stuti Fernandes, Cornelius J. Fernandesz, Maria Fleseriu, Rousseau Gama, David S. Geller, Iuri Martin Goemann, Guido Grassi, Tulay Guran, Fahmy W.F. Hanna, Nakysa Hooman, Pieter Jansen, Felix Jebasingh, Márta Korbonits, Ana Luiza Maia, Franco Mantero, Mojgan Mazaheri, Gabriela Mihai, Matthew A. Nazari, Dominic Oduro-Donkor, Katherine Ordidge, Karel Pacak, Joseph M. Pappachan, Ondřej Petrák, Oskar Ragnarsson, Anju Sahdev, Anna Sanders, Ute I. Scholl, Gino Seravalle, Fatemeh Ghane Sharbaf, Michael Stowasser, Constantine A. Stratakis, Naomi Szwarcbard, Nihal Thomas, Irene Tizianel, Duncan J. Topliss, Busra Gurpinar Tosun, Badhma Valaiyapathi, Elena V. Varlamov, Giacomo Voltan, Martin Wolley, Tomáš Zelinka
Publikováno v:
Endocrine Hypertension ISBN: 9780323961202
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d95b4fa36590a54b213c914f605d1b4
https://doi.org/10.1016/b978-0-323-96120-2.01002-5
https://doi.org/10.1016/b978-0-323-96120-2.01002-5
Publikováno v:
Endocrine Hypertension ISBN: 9780323961202
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a31fe5234645ad78110cfeafe3e568a
https://doi.org/10.1016/b978-0-323-96120-2.00023-6
https://doi.org/10.1016/b978-0-323-96120-2.00023-6
Autor:
Michael Stowasser, Tracy Ann Williams, Martin Reincke, Irina Bancos, Paolo Mulatero, Ute I. Scholl
Publikováno v:
The Lancet Diabetes & Endocrinology
Summary Primary aldosteronism is a common cause of secondary hypertension associated with excess cardiovascular morbidities. Primary aldosteronism is underdiagnosed because it does not have a specific, easily identifiable feature and clinicians can b
Autor:
Ute I. Scholl
Publikováno v:
eLS
In primary aldosteronism, the adrenal gland produces excessive amounts of the steroid hormone aldosterone, which causes hypertension. Common causes are aldosterone-producing adenomas (benign tumours) and bilateral adrenal hyperplasia. The majority of