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Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
Williams TA, Monticone S, Schack VR, Stindl J, Burrello J, Buffolo F, Annaratone L, Castellano I, Beuschlein F, Reincke M, Lucatello B, Ronconi V, Fallo F, Bernini G, Maccario M, Giacchetti G, Veglio F, Warth R, Vilsen B, Mulatero P. Williams TA, et al. Among authors: schack vr. Hypertension. 2014 Jan;63(1):188-95. doi: 10.1161/HYPERTENSIONAHA.113.01733. Epub 2013 Sep 30. Hypertension. 2014. PMID: 24082052 Free article.
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Beuschlein F, et al. Among authors: schack vr. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase.
Roenn CP, Li M, Schack VR, Forster IC, Holm R, Toustrup-Jensen MS, Andersen JP, Petrou S, Vilsen B. Roenn CP, et al. Among authors: schack vr. J Biol Chem. 2019 Jan 4;294(1):269-280. doi: 10.1074/jbc.RA118.004591. Epub 2018 Nov 8. J Biol Chem. 2019. PMID: 30409907 Free PMC article.
18 results