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Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter.
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- Åkerström, Tobias (author)
- Uppsala universitet,Experimentell kirurgi
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- Crona, Joakim (author)
- Uppsala universitet,Experimentell kirurgi
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- Verdugo, Alberto Delgado (author)
- Uppsala universitet,Experimentell kirurgi
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- Cupisti, Kenko (author)
- Willenberg, Holger S (author)
- Knoefel, Wolfram T (author)
- Saeger, Wolfgang (author)
- Feller, Alfred (author)
- Ip, Julian (author)
- Soon, Patsy (author)
- Anlauf, Martin (author)
- Alesina, Pier F (author)
- Schmid, Kurt W (author)
- Decaussin, Myriam (author)
- Levillain, Pierre (author)
- Peix, Jean-Louis (author)
- Robinson, Bruce (author)
- Iwen, K Alexander (author)
- Kraimps, Jean-Louis (author)
- Dralle, Henning (author)
- Sidhu, Stan (author)
- Lehnert, Hendrik (author)
- Walz, Martin K (author)
- Carling, Tobias (author)
- Choi, Murim (author)
- Lifton, Richard P (author)
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- (creator_code:org_t)
- 2012-07-27
- 2012
- English.
- In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 7:7
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Aldosterone producing lesions are a common cause of hypertension, but genetic alterations for tumorigenesis have been unclear. Recently, either of two recurrent somatic missense mutations (G151R or L168R) was found in the potassium channel KCNJ5 gene in aldosterone producing adenomas. These mutations alter the channel selectivity filter and result in Na(+) conductance and cell depolarization, stimulating aldosterone production and cell proliferation. Because a similar mutation occurs in a Mendelian form of primary aldosteronism, these mutations appear to be sufficient for cell proliferation and aldosterone production. The prevalence and spectrum of KCNJ5 mutations in different entities of adrenocortical lesions remain to be defined.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- art (subject category)
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- MEDICAL AND HEALTH SCIENCES
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- Karolinska Institutet
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