ArticleNature genetics2013
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 292 papers, 1 of them a synthesis that pooled it.
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Who cites it
292 citing papers in PubMed, 1 synthesis or guideline pooled it, 528 citations in OpenAlex.
- Identification of risk loci for primary aldosteronism in genome-wide association studies.Nature communications · 2022Pooled it
- Evaluation of Aldosterone Suppression by Cinnarizine, a Putative Cav1.3 Inhibitor.The Journal of clinical endocrinology and metabolism · 2025Trial
- [Nature medicine · 2023Trial
- Aldosterone-Producing Lesions HarboringHypertension (Dallas, Tex. : 1979) · 2026Article
- Inter- and intratumoral heterogeneity of aldosterone-producing adenomas: recent advances and clinical implications.Endocrine journal · 2026Review
- Mechanism of Rescue of NaInternational journal of molecular sciences · 2026Article
- Aldosterone Synthase Inhibitors: Emerging Therapeutic Strategies in Resistant Hypertension.Life (Basel, Switzerland) · 2026Review
- On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).The Journal of general physiology · 2026Article
- CXCR4 reduces aldosterone synthesis via regulating CYP11B2 expression.Genes & diseases · 2026Article
- From bench to bedside: primary aldosteronism revisited.Endocrine connections · 2026Article
- Identification of novel functional sites in the CaProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Bilateral Adrenal Primary Aldosteronism Is Uniformly Present in Hypertensive Afro-Caribbean First-Generation Immigrants to Western Canada.Journal of the American Heart Association · 2026Article
- PASNA syndrome with overlappingJCEM case reports · 2026Article
- Primary aldosteronism.Nature reviews. Disease primers · 2026Review
- Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density-Dependent Mechanisms in Aldosterone-Producing Adenomas.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Increased Frequency and Distinct Genotypic Patterns of Somatic Aldosterone-Driver Mutations in Aldosterone-Producing Micronodules from Primary Aldosteronism Patients.Endocrine pathology · 2026Article
- ClC-2 Contributes to Hypotonicity-Induced Adrenal Aldosterone Secretion.Acta physiologica (Oxford, England) · 2026Article
- Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.European journal of endocrinology · 2026Article
- The genetics of hypertension.Nature reviews. Nephrology · 2026Review
- Emerging methods for subtype differentiation in primary aldosteronism.Journal of internal medicine · 2026Review
232 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors at 12 institutions in 5 countries.
Funding
Abstract
At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas (APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in ATP1A1 and ATP2A3 were reported to occur in APAs. We find that KCNJ5 mutations are common in APAs resembling cortisol-secreting cells of the adrenal zona fasciculata but are absent in a subset of APAs resembling the aldosterone-secreting cells of the adrenal zona glomerulosa. We performed exome sequencing of ten zona glomerulosa-like APAs and identified nine with somatic mutations in either ATP1A1, encoding the Na(+)/K(+) ATPase α1 subunit, or CACNA1D, encoding Cav1.3. The ATP1A1 mutations all caused inward leak currents under physiological conditions, and the CACNA1D mutations induced a shift of voltage-dependent gating to more negative voltages, suppressed inactivation or increased currents. Many APAs with these mutations were <1 cm in diameter and had been overlooked on conventional adrenal imaging. Recognition of the distinct genotype and phenotype for this subset of APAs could facilitate diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.