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A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: boulkroun s. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.
Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.
Boulkroun S, Beuschlein F, Rossi GP, Golib-Dzib JF, Fischer E, Amar L, Mulatero P, Samson-Couterie B, Hahner S, Quinkler M, Fallo F, Letizia C, Allolio B, Ceolotto G, Cicala MV, Lang K, Lefebvre H, Lenzini L, Maniero C, Monticone S, Perrocheau M, Pilon C, Plouin PF, Rayes N, Seccia TM, Veglio F, Williams TA, Zinnamosca L, Mantero F, Benecke A, Jeunemaitre X, Reincke M, Zennaro MC. Boulkroun S, et al. Hypertension. 2012 Mar;59(3):592-8. doi: 10.1161/HYPERTENSIONAHA.111.186478. Epub 2012 Jan 23. Hypertension. 2012. PMID: 22275527
Integrating genetics and genomics in primary aldosteronism.
Zennaro MC, Jeunemaitre X, Boulkroun S. Zennaro MC, et al. Among authors: boulkroun s. Hypertension. 2012 Sep;60(3):580-8. doi: 10.1161/HYPERTENSIONAHA.111.188250. Epub 2012 Jul 16. Hypertension. 2012. PMID: 22802222 Review. No abstract available.
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: boulkroun s. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production.
Berthon A, Drelon C, Ragazzon B, Boulkroun S, Tissier F, Amar L, Samson-Couterie B, Zennaro MC, Plouin PF, Skah S, Plateroti M, Lefèbvre H, Sahut-Barnola I, Batisse-Lignier M, Assié G, Lefrançois-Martinez AM, Bertherat J, Martinez A, Val P. Berthon A, et al. Among authors: boulkroun s. Hum Mol Genet. 2014 Feb 15;23(4):889-905. doi: 10.1093/hmg/ddt484. Epub 2013 Oct 1. Hum Mol Genet. 2014. PMID: 24087794
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