Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism
AbstractPrimary aldosteronism is the most common form of endocrine hypertension with a prevalence of 6% in the general population with hypertension. The genetic basis of the four familial forms of primary aldosteronism (familial hyperaldosteronism FH types I–IV) and the majority of sporadic unilateral aldosterone-producing adenomas has now been resolved. Familial forms of hyperaldosteronism are, however, rare. The sporadic forms of the disease prevail and these are usually caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. Aldosterone-producing adenomas frequently carry a causative somatic mutation in either of a number of genes with the KCNJ5 gene, encoding an inwardly rectifying potassium channel, a recurrent target harboring mutations at a prevalence of more than 40% worldwide. Other than genetic variations, gene expression profiling of aldosterone-producing adenomas has shed light on the genes and intracellular signalling pathways that may play a role in the pathogenesis and pathophysiology of these tumors. View Full-Text
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Aristizabal Prada, E.T.; Castellano, I.; Sušnik, E.; Yang, Y.; Meyer, L.S.; Tetti, M.; Beuschlein, F.; Reincke, M.; Williams, T.A. Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. Int. J. Mol. Sci. 2018, 19, 1124.
Aristizabal Prada ET, Castellano I, Sušnik E, Yang Y, Meyer LS, Tetti M, Beuschlein F, Reincke M, Williams TA. Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. International Journal of Molecular Sciences. 2018; 19(4):1124.Chicago/Turabian Style
Aristizabal Prada, Elke T.; Castellano, Isabella; Sušnik, Eva; Yang, Yuhong; Meyer, Lucie S.; Tetti, Martina; Beuschlein, Felix; Reincke, Martin; Williams, Tracy A. 2018. "Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism." Int. J. Mol. Sci. 19, no. 4: 1124.
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