ArticleEBioMedicine2016
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Article in EBioMedicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
81 citing papers in PubMed, 2 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.Frontiers in endocrinology · 2024Pooled it
- Identification of risk loci for primary aldosteronism in genome-wide association studies.Nature communications · 2022Pooled it
- Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.Journal of the Endocrine Society · 2026Article
- Primary aldosteronism.Nature reviews. Disease primers · 2026Review
- Cation homeostasis-related prognostic genes uncovered by transcriptomic analysis in breast cancer.Translational cancer research · 2026Article
- Familial Hyperaldosteronism Type IV (FH-IV)-Clinical Phenotypes, Genetics and Management ofJournal of clinical medicine · 2026Review
- Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.BMC cardiovascular disorders · 2026Review
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.PLoS genetics · 2025Article
- Polymorphisms inGenes · 2025Article
- Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.The Journal of clinical endocrinology and metabolism · 2025Review
- Identification of critical biomarkers and immune landscape patterns in glioma based on multi-database.Discover oncology · 2025Article
- New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.Frontiers in medicine · 2025Article
- The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.Frontiers in endocrinology · 2025Review
- Article
- Genetic variants and down-regulation of CACNA1H in pheochromocytoma.Endocrine-related cancer · 2024Article
- The T-type calcium channelosome.Pflugers Archiv : European journal of physiology · 2024Review
- Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche.Epigenetics · 2023Article
- Electrophysiological characterization of a CaMolecular brain · 2023Article
- Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.Nature genetics · 2023Article
21 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
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A recurrent mutation in CACNA1H (coding for Cav3.2) was identified in a familial form of early onset PA. Here we performed whole exome sequencing (WES) in patients with different types of PA to identify new susceptibility genes. Four different heterozygous germline CACNA1H variants were identified. A de novo Cav3.2 p.Met1549Ile variant was found in early onset PA and multiplex developmental disorder. Cav3.2 p.Ser196Leu and p.Pro2083Leu were found in two patients with FH, and p.Val1951Glu was identified in one patient with APA. Electrophysiological analysis of mutant Cav3.2 channels revealed significant changes in the Ca
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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.