ArticleNature genetics2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
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 320 papers, 1 of them a synthesis that pooled it.
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Who cites it
320 citing papers in PubMed, 1 synthesis or guideline pooled it, 607 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
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- A Drug-Referenced Machine-Learning Framework for Prioritizing Korean Herbal Formulations in Hypertension Using Linear SVM and Graph Convolutional Networks.International journal of molecular sciences · 2026Article
- Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.Hypertension (Dallas, Tex. : 1979) · 2026Article
- Systematic benchmarking of multi-ancestry fine-mapping under variant heterogeneity and LD mismatch.Briefings in bioinformatics · 2026Article
- CXCR4 reduces aldosterone synthesis via regulating CYP11B2 expression.Genes & diseases · 2026Article
- Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.Journal of the Endocrine Society · 2026Article
- Identification of novel functional sites in the CaProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Calcium signaling pathway implicates a shared genetic basis between psychiatric and cardiovascular diseases.Translational psychiatry · 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
- FES eQTL suppresses the progression of primary aldosteronism by regulating CD3 on TD CD8br immune cells: Mendelian randomization and mediation analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Molecular pathology of primary aldosteronism and hypercortisolism: Impact on adrenal surgery.iScience · 2026Review
- 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
- Regulation of Aldosterone Secretion by Substance P and the Neurokinin Type 1 Receptor in Aldosterone-Producing Adenomas.Journal of the American Heart Association · 2026Article
260 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 9 institutions in 3 countries.
Funding
Abstract
Adrenal aldosterone-producing adenomas (APAs) constitutively produce the salt-retaining hormone aldosterone and are a common cause of severe hypertension. Recurrent mutations in the potassium channel gene KCNJ5 that result in cell depolarization and Ca(2+) influx cause ∼40% of these tumors. We identified 5 somatic mutations (4 altering Gly403 and 1 altering Ile770) in CACNA1D, encoding a voltage-gated calcium channel, among 43 APAs without mutated KCNJ5. The altered residues lie in the S6 segments that line the channel pore. Both alterations result in channel activation at less depolarized potentials; Gly403 alterations also impair channel inactivation. These effects are inferred to cause increased Ca(2+) influx, which is a sufficient stimulus for aldosterone production and cell proliferation in adrenal glomerulosa. We also identified de novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities. These findings implicate gain-of-function Ca(2+) channel mutations in APAs and primary aldosteronism.
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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.