ArticleJournal of human hypertension2016
ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.
Article in Journal of human hypertension, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Article
- The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.Orphanet journal of rare diseases · 2025Review
- Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance.Virchows Archiv : an international journal of pathology · 2024Review
- Primary aldosteronism: Pathophysiological mechanisms of cell death and proliferation.Frontiers in endocrinology · 2022Review
- Progress on Genetic Basis of Primary Aldosteronism.Biomedicines · 2021Review
- A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.BMC medical genomics · 2021Article
- Update on Genetics of Primary Aldosteronism.Biomedicines · 2021Review
- Unravelling the Genetic Basis of Primary Aldosteronism.Nutrients · 2021Review
- What Did We Learn from the Molecular Biology of Adrenal Cortical Neoplasia? From Histopathology to Translational Genomics.Endocrine pathology · 2021Review
- Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.Frontiers in endocrinology · 2021Review
- Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.Journal of the Endocrine Society · 2020Review
- Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia.Endocrine-related cancer · 2020Article
- Molecular Mechanisms of Primary Aldosteronism.Endocrinology and metabolism (Seoul, Korea) · 2019Review
- Molecular mechanisms ofCurrent opinion in endocrine and metabolic research · 2019Article
- ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.Journal of the American Heart Association · 2019Article
- The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity.Frontiers in medicine · 2018Review
- ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.PloS one · 2018Article
- ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).Journal of human hypertension · 2017Article
- Article
- Evolution of computed tomography-detectable adrenal nodules in patients with bilateral primary aldosteronism.Endocrine · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic hyperaldosteronism (IHA) due to bilateral adrenal hyperplasia is the most common subtype of primary aldosteronism (PA). The pathogenesis of IHA is still unknown, but the bilateral disease suggests a potential predisposing genetic alteration. Heterozygous germline mutations of armadillo repeat containing 5 (ARMC5) have been shown to be associated with hypercortisolism due to sporadic primary bilateral macronodular adrenal hyperplasia and are also observed in African-American PA patients. We investigated the presence of germline ARMC5 mutations in a group of PA patients who had bilateral computed tomography-detectable adrenal alterations. We sequenced the entire coding region of ARMC5 and all intron/exon boundaries in 39 patients (37 Caucasians and 2 black Africans) with confirmed PA (8 unilateral, 27 bilateral and 4 undetermined subtype) and bilateral adrenal lesions. We identified 11 common variants, 5 rare variants with a minor allele frequency <1% and 2 new variants not previously reported in public databases. We did not detect by in silico analysis any ARMC5 sequence variations that were predicted to alter protein function. In conclusion, ARMC5 mutations are not present in a fairly large series of Caucasian patients with PA associated to bilateral adrenal disease. Further studies are required to definitively clarify the role of ARMC5 in the pathogenesis of adrenal nodules and aldosterone excess in patients with PA.
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