Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Adrenal aldosterone-producing adenomas (APAs) constitutively produce the salt-retaining hormone aldosterone and are a common cause of severe hypertension. Recurrent mutations in the potassium channel KCNJ5 that result in cell depolarization and Ca(2+) influx cause ~40% of these tumors(1). We found f...

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Main Authors: Scholl, Ute I., Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D., Fonseca, Annabelle L., Korah, Reju, Starker, Lee F., Kunstman, John W., Prasad, Manju L., Hartung, Erum A., Mauras, Nelly, Benson, Matthew R., Brady, Tammy, Shapiro, Jay R., Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3876926/
https://ncbi.nlm.nih.gov/pubmed/23913001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2695
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