ArticlePloS one2018
ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.
Article in PloS one, 2018. 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, 41 citations in OpenAlex.
- Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with anFrontiers in endocrinology · 2026Article
- A case report of primary bilateral macronodular adrenal hyperplasia caused by a novelFrontiers in medicine · 2026Article
- A NovelJCEM case reports · 2025Article
- Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.Endocrine connections · 2025Article
- PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.The Journal of clinical endocrinology and metabolism · 2025Article
- Nodule density on CT-scan correlates with CYP11B1 expression in a patient with ARMC5 mutated primary bilateral macronodular adrenal hyperplasia.Diagnostic pathology · 2025Article
- Advancements in the research of the structure, function, and disease-related roles of ARMC5.Frontiers of medicine · 2025Review
- The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.Orphanet journal of rare diseases · 2025Review
- Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation.European journal of endocrinology · 2024Article
- Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.Journal of neuro-oncology · 2024Article
- New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).Molecular genetics & genomic medicine · 2023Article
- A NovelDiagnostics (Basel, Switzerland) · 2022Article
- Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.Nature reviews. Endocrinology · 2022Review
- A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report.BMC endocrine disorders · 2022Article
- Heterogeneous circulating miRNA profiles of PBMAH.Frontiers in endocrinology · 2022Article
- A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.BMC medical genomics · 2021Article
- Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia.Journal of the Endocrine Society · 2021Article
- Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women.Human molecular genetics · 2020Article
- Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia.Endocrine-related cancer · 2020Article
- ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report.Case reports in endocrinology · 2020Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. PBMAH family members with ARMC5 pathogenic germline mutations displayed various clinical manifestations. ARMC5 pathogenic germline mutations were identified in 5 sporadic PBMAH patients among whom one patient displayed both hypercortisolism and primary aldosteronism. We detected a total of 10 ARMC5 pathogenic mutations, of which 8 had not been previously reported. Our results suggest that ARMC5 pathogenic germline mutations are common in familial and sporadic Chinese PBMAH patients, and demonstrate the importance of ARMC5 screening in PBMAH family members to detect patients with insidious PBMAH.
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