ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

doi:10.1210/jc.2013-4237

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Aug 2014

Alencar Guilherme Asmar, Lerario Antonio Marcondes, Nishi Mirian Yumie, Mariani Beatriz Marinho de Paula, Almeida Madson Queiroz, Tremblay Johanne, Hamet Pavel, Bourdeau Isabelle, Zerbini Maria Claudia Nogueira, Pereira Maria Adelaide Albergaria, Gomes Gilberto Carlos, Rocha Manoel de Souza, Chambo Jose Luis, Lacroix André, Mendonca Berenice Bilharinho, Fragoso Maria Candida Barisson Villares

Abstract excerpt

CONTEXT: Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. OBJECTIVE: The aim of the present study was to identify the gene responsible for familial PMAH. PATIENTS AND METHODS:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Armadillo Domain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brazil

Share to Cushing Syndrome

Share to Genetic Linkage

Share to Germ-Line Mutation

Share to Mutation, Missense

Share to Pedigree

Share to Tumor Suppressor Proteins

Source

Open in PubMed

Identifiers

PMID: 24708098
DOI: 10.1210/jc.2013-4237

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.PMID 24708098Read ↗

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an updateSemantic proximity Read ↗

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.Semantic proximity Read ↗

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.Semantic proximity Read ↗

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.Semantic proximity Read ↗

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional ConsequencesSemantic proximity Read ↗

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Semantic proximity Read ↗

Molecular and Clinical Evidence for an<i>ARMC5</i>Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and MeningiomaSemantic proximity Read ↗

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.Semantic proximity Read ↗

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.Semantic proximity Read ↗

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patientsSemantic proximity Read ↗

Novel ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family reportSemantic proximity Read ↗

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.