Diagnosis and treatment of primary aldosteronism
Reincke, Martin, Bancos, Irina, Mulatero, Paolo, Scholl, Ute I, Stowasser, Michael, Williams, Tracy Ann
Published in The lancet. Diabetes & endocrinology (01.12.2021)
Published in The lancet. Diabetes & endocrinology (01.12.2021)
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Journal Article
Kidney physiology and susceptibility to acute kidney injury: implications for renoprotection
Scholz, Holger, Boivin, Felix J., Schmidt-Ott, Kai M., Bachmann, Sebastian, Eckardt, Kai-Uwe, Scholl, Ute I., Persson, Pontus B.
Published in Nature reviews. Nephrology (01.05.2021)
Published in Nature reviews. Nephrology (01.05.2021)
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Journal Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, Henrike O, Baez-Nieto, David, Iqbal, Sumaiya, Palmer, Duncan S, Brunklaus, Andreas, May, Patrick, Johannesen, Katrine M, Lauxmann, Stephan, Lemke, Johannes R, Møller, Rikke S, Pérez-Palma, Eduardo, Scholl, Ute I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J, Wang, Hao-Ran, Pan, Jen, Daly, Mark J
Published in Science translational medicine (12.08.2020)
Published in Science translational medicine (12.08.2020)
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Journal Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Goh, Gerald, Scholl, Ute I, Healy, James M, Choi, Murim, Prasad, Manju L, Nelson-Williams, Carol, Kunstman, John W, Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S, Stålberg, Peter, Hellman, Per, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
Genetic causes of primary aldosteronism
Seidel, Eric, Schewe, Julia, Scholl, Ute I.
Published in Experimental & molecular medicine (06.11.2019)
Published in Experimental & molecular medicine (06.11.2019)
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Journal Article
K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi, Murim, Scholl, Ute I, Yue, Peng, Björklund, Peyman, Zhao, Bixiao, Nelson-Williams, Carol, Ji, Weizhen, Cho, Yoonsang, Patel, Aniruddh, Men, Clara J, Lolis, Elias, Wisgerhof, Max V, Geller, David S, Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Wang, Wenhui, Carling, Tobias, Lifton, Richard P
Published in Science (American Association for the Advancement of Science) (11.02.2011)
Published in Science (American Association for the Advancement of Science) (11.02.2011)
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Journal Article
Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline
Mulatero, Paolo, Scholl, Ute I, Fardella, Carlos E, Charmandari, Evangelia, Januszewicz, Andrzej, Reincke, Martin, Gomez-Sanchez, Celso E, Stowasser, Michael, Dekkers, Olaf M
Published in European journal of endocrinology (30.03.2024)
Published in European journal of endocrinology (30.03.2024)
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Journal Article
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, Murim, Scholl, Ute I, Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R, Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Aysin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2009)
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Journal Article
Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+)
Seidel, Eric, Schewe, Julia, Zhang, Junhui, Dinh, Hoang An, slund, Sofia K, Markó, Lajos, Hellmig, Nicole, Peters, Jörg, Muller, Dominik N, Lifton, Richard P, Nottoli, Timothy, Stölting, Gabriel, Scholl, Ute I
Published in Proceedings of the National Academy of Sciences - PNAS (27.04.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (27.04.2021)
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Journal Article
Integration of artificial intelligence and plasma steroidomics with laboratory information management systems: application to primary aldosteronism
Constantinescu, Georgiana, Schulze, Manuel, Peitzsch, Mirko, Hofmockel, Thomas, Scholl, Ute I., Williams, Tracy Ann, Lenders, Jacques W.M., Eisenhofer, Graeme
Published in Clinical chemistry and laboratory medicine (25.11.2022)
Published in Clinical chemistry and laboratory medicine (25.11.2022)
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Journal Article
KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)
Zhang, Chengbiao, Wang, Lijun, Zhang, Junhui, Su, Xiao-Tong, Lin, Dao-Hong, Scholl, Ute I., Giebisch, Gerhard, Lifton, Richard P., Wang, Wen-Hui
Published in Proceedings of the National Academy of Sciences - PNAS (12.08.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (12.08.2014)
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Journal Article
CLCN2 chloride channel mutations in familial hyperaldosteronism type II
Scholl, Ute I., Stölting, Gabriel, Schewe, Julia, Thiel, Anne, Tan, Hua, Nelson-Williams, Carol, Vichot, Alfred A., Jin, Sheng Chih, Loring, Erin, Untiet, Verena, Yoo, Taekyeong, Choi, Jungmin, Xu, Shengxin, Wu, Aihua, Kirchner, Marieluise, Mertins, Philipp, Rump, Lars C., Onder, Ali Mirza, Gamble, Cory, McKenney, Daniel, Lash, Robert W., Jones, Deborah P., Chune, Gary, Gagliardi, Priscila, Choi, Murim, Gordon, Richard, Stowasser, Michael, Fahlke, Christoph, Lifton, Richard P.
Published in Nature genetics (01.03.2018)
Published in Nature genetics (01.03.2018)
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Journal Article
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
Scholl, Ute I, Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T, Häusler, Martin G, Grimmer, Joanne, Tobe, Sheldon W, Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
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