The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands
Open accessAbstract
Significance: Primary aldosteronism (PA) represents the most common adrenal disease and cause of secondary hypertension. However, little is known regarding adrenal cellular origins. Recently, subcapsular aldosterone-producing cell clusters (APCCs) were observed in normal adrenals. We hypothesize that APCCs are a contributor to PA. Here, we characterized the APCC transcriptome and show that CYP11B2 expression is increased compared with the rest of the adrenal cortex. We also show that many APCCs harbor known aldosterone-producing adenoma (APA)-related ion channels/pumps ( ATPase, Na + /K + transporting, α1-polypeptide and calcium channel, voltage-dependent, L-type, α1D-subunit ) mutations that stimulate CYP11B2 expression and aldosterone production. Importantly, the mutation spectrum seen in APCCs differs from that reported for APA. These results provide molecular support for APCC as a precursor of PA.
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Cites
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Mutation of the mouse klotho gene leads to a syndrome resembling ageing
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Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
Azizan, E. A. B., Poulsen, H., Tuluc, P., Zhou, J., Clausen, M. V., Lieb, A., Maniero, C., Garg, S., Bochukova, E. G., Zhao, W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2716 · Cited by 544
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ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome
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Acute and chronic regulation of aldosterone production
Hattangady, N. G., Olala, L. O., Bollag, W. B., & Rainey, W. E. (2012) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.07.034 · Cited by 347
Self-citationGenetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma
Fernandes-Rosa, F. L., Williams, T. A., Riester, A., Steichen, O., Beuschlein, F., Boulkroun, S., Strom, T. M., Monticone, S., Amar, L., Meatchi, T., et al. (2014) · Hypertension · doi:10.1161/hypertensionaha.114.03419 · Cited by 310
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Cited by
The Unrecognized Prevalence of Primary Aldosteronism: A Cross-sectional Study
Brown, J. M., Siddiqui, M., Calhoun, D. A., Carey, R. M., Hopkins, P. N., Williams, G. H., & Vaidya, A. (2020) · Annals of Internal Medicine · doi:10.7326/m20-0065 · Cited by 649
The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease
Clausen, M. V., Hilbers, F., & Poulsen, H. (2017) · Frontiers in Physiology · doi:10.3389/fphys.2017.00371 · Cited by 511
Williams, B., MacDonald, T. M., Morant, S. V., Webb, D. J., Sever, P., McInnes, G. T., Ford, I., Cruickshank, J. K., Caulfield, M. J., Padmanabhan, S., et al. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30071-8 · Cited by 347
Diagnosis and treatment of primary aldosteronism: practical clinical perspectives
Young, W. F. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12831 · Cited by 325
Vaidya, A., Mulatero, P., Baudrand, R., & Adler, G. K. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00139 · Cited by 299
Metadata
- Authors
- Nishimoto, K., Tomlins, S. A., Kuick, R., Cani, A. K., Giordano, T. J., Hovelson, D. H., Liu, C.-J., Sanjanwala, A. R., Edwards, M. A., Gomez-Sanchez, C. E., Nanba, K., & Rainey, W. E.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2015-08-03
- Volume
- 112
- Issue
- 33
- Pages
- E4591-9
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1907427644
- Cited by
- 334
- References
- 10
- FWCI
- 26.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Nishimoto, K., Tomlins, S. A., Kuick, R., Cani, A. K., Giordano, T. J., Hovelson, D. H., Liu, C.-J., Sanjanwala, A. R., Edwards, M. A., Gomez-Sanchez, C. E., Nanba, K., & Rainey, W. E. (2015). Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1505529112
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