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Dokumenttyp:
journal article 
Autor(en):
Beuschlein, Felix; Boulkroun, Sheerazed; Osswald, Andrea; Wieland, Thomas; Nielsen, Hang N; Lichtenauer, Urs D; Penton, David; Schack, Vivien R; Amar, Laurence; Fischer, Evelyn; Walther, Anett; Tauber, Philipp; Schwarzmayr, Thomas; Diener, Susanne; Graf, Elisabeth; Allolio, Bruno; Samson-Couterie, Benoit; Benecke, Arndt; Quinkler, Marcus; Fallo, Francesco; Plouin, Pierre-Francois; Mantero, Franco; Meitinger, Thomas; Mulatero, Paolo; Jeunemaitre, Xavier; Warth, Richard; Vilsen, Bente; Zennaro, Ma...    »
 
Titel:
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 
Abstract:
Primary aldosteronism is the most prevalent form of secondary hypertension. To explore molecular mechanisms of autonomous aldosterone secretion, we performed exome sequencing of aldosterone-producing adenomas (APAs). We identified somatic hotspot mutations in the ATP1A1 (encoding an Na(+)/K(+) ATPase ? subunit) and ATP2B3 (encoding a Ca(2+) ATPase) genes in three and two of the nine APAs, respectively. These ATPases are expressed in adrenal cells and control sodium, potassium and calcium ion hom...    »
 
Zeitschriftentitel:
Nat Genet 
Jahr:
2013 
Band / Volume:
45 
Heft / Issue:
Seitenangaben Beitrag:
440-4, 444e1-2 
Sprache:
eng 
Print-ISSN:
1061-4036 
TUM Einrichtung:
Institut für Humangenetik