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Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O'Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ. Zhou J, et al. Among authors: zennaro mc. Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12. Nat Genet. 2021. PMID: 34385710 Free PMC 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. Among authors: zennaro mc. 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. 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: zennaro mc. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
135 results