The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
Open accessAbstract
CONTEXT: Inactivating germline mutations of the probable tumor suppressor gene, armadillo repeat containing 5 (ARMC5), have recently been identified as a genetic cause of macronodular adrenal hyperplasia (MAH). OBJECTIVE: We searched for ARMC5 mutations in a large cohort of patients with MAH. The clinical phenotype of patients with and without ARMC5 mutations was compared. METHODS: Blood DNA from 34 MAH patients was genotyped using Sanger sequencing. Diurnal serum cortisol measurements, plasma ACTH levels, urinary steroids, 6-day Liddle's test, adrenal computed tomography, and weight of adrenal glands at adrenalectomy were assessed. RESULTS: Germline ARMC5 mutations were found in 15 of 34 patients (44.1%). In silico analysis of the mutations indicated that seven (20.6%) predicted major implications for gene function. Late-night cortisol levels were higher in patients with ARMC5-damaging mutations compared with those without and/or with nonpathogenic mutations (14.5 ± 5.6 vs 6.7 ± 4.3, P < .001). All patients carrying a pathogenic ARMC5 mutation had clinical Cushing's syndrome (seven of seven, 100%) compared with 14 of 27 (52%) of those without or with mutations that were predicted to be benign (P = .029). Repeated-measures analysis showed overall higher urinary 17-hydroxycorticosteroids and free cortisol values in the patients with ARMC5-damaging mutations during the 6-day Liddle's test (P = .0002). CONCLUSIONS: ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with MAH. Knowledge of a patient's ARMC5 status has important clinical implications for the diagnosis of Cushing's syndrome and genetic counseling of patients and their families.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Patients with ARMC5 mutations tend to display adrenal hyperplasia associated with multiple nodules (172-175).”
From Adrenal incidentaloma (2020) · cites this paper as [175]
Citations
Cites
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521
Stratakis, C. A., Kirschner, L. S., & Carney, J. A. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.9.7903 · Cited by 805
Self-citationTESTS OF PITUITARY-ADRENAL SUPPRESSIBILITY IN THE DIAGNOSIS OF CUSHING'S SYNDROME*
Liddle, G. W. (1960) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-20-12-1539 · Cited by 732
ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome
Assié, G., Libé, R., Espiard, S., Rizk-Rabin, M., Guimier, A., Luscap, W., Barreau, O., Lefèvre, L., Sibony, M., Guignat, L., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1304603 · Cited by 395
Self-citationStratakis, C. A., Sarlis, N. J., Kirschner, L. S., Carney, J. A., Doppman, J. L., Nieman, L. K., Chrousos, G. P., & Papanicolaou, D. A. (1999) · Annals of Internal Medicine · doi:10.7326/0003-4819-131-8-199910190-00006 · Cited by 250
Self-citationACTH-independent macronodular adrenal hyperplasia
Lacroix, A. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.011 · Cited by 200
Hsiao, H., Kirschner, L. S., Bourdeau, I., Keil, M. F., Boikos, S. A., Verma, S., Robinson-White, A. J., Nesterova, M., Lacroix, A., & Stratakis, C. A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0516 · Cited by 183
Self-citationDiagnostic tests for children who are referred for the investigation of Cushing syndrome
Batista, D. L., Riar, J., Keil, M., & Stratakis, C. A. (2007) · Pediatrics · doi:10.1542/peds.2006-2402 · Cited by 165
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Items 101–170 of 170
Republished: Clinicopathological correlates of adrenal Cushing's syndrome
Duan, K., Hernandez, K., & Mete, Ö. (2015) · Postgraduate Medical Journal · doi:10.1136/postgradmedj-2014-202612rep · Cited by 8
Panarelli, A., Schweizer, J. R. D. O. L., Stüfchen, I., Brüdgam, D., Zopp, S., Zimmermann, P., Mulatero, P., Deniz, S., Beuschlein, F., Reincke, M., et al. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf020 · Cited by 7
Mamedova, E., Vasilyev, E., Petrov, V. M., Izmailova, N. S., Алексеевна, Б. С., Rozhinskaya, L. Y., Tiulpakov, A. N., & Belaya, Z. E. (2019) · Problems of Endocrinology · doi:10.14341/probl9712 · Cited by 7
Yan, F., Zeng, J., Chen, Y., Cheng, Y., Yu, P., Zang, L., Chen, K., Gu, W., Du, J., Guo, Q., et al. (2022) · Endocrine · doi:10.1007/s12020-022-03077-w · Cited by 7
Etiopathogeny of Primary Adrenal Hypercortisolism
Vélayoudom‐Céphise, F., Haissaguerre, M., & Tabarin, A. (2016) · Frontiers of hormone research · doi:10.1159/000443863 · Cited by 6
Adrenal Pathology in the Adult: A Urological Pathologist’s Perspective
Hansel, D. E., & Reuter, V. E. (2016) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000120 · Cited by 6
The molecular genetics of adrenal cushing
Vaduva, P., & Bertherat, J. Y. (2024) · HORMONES · doi:10.1007/s42000-024-00608-0 · Cited by 5
Self-citationBonnet-Serrano, F., Barat, M., Vaczlavik, A., Jouinot, A., Bouys, L., Laguillier, C., Zientek, C., Simonneau, C., Larger, É., Guignat, L., et al. (2022) · Endocrine Connections · doi:10.1530/ec-22-0063 · Cited by 5
Self-citationGiacchè, M., Panarotto, A., Mori, L., Poliani, P. L., Lanzi, R., Lena, M. S., & Castellano, M. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2126 · Cited by 5
Salame, A. A. M., Charchar, H. L. S., Dourado, J. P. D. O., Mendonca, B. B., Alencar, G. A., de Araújo, L. J. T., Arantes, P. R., Rabelo, N. N., Figueiredo, E. G., & Fragoso, M. C. B. V. (2024) · Journal of Neuro-Oncology · doi:10.1007/s11060-024-04680-9 · Cited by 5
Wang, W., & Wei, F. (2022) · BMC Endocrine Disorders · doi:10.1186/s12902-022-01128-x · Cited by 5
Gene Mutations in Cushing’s Syndrome
Ojha, U., Ogunmwonyi, I., Xiang, J., & Ojha, H. (2022) · Molecular Syndromology · doi:10.1159/000524267 · Cited by 5
Elhassan, Y., Appenzeller, S., Landwehr, L., Lippert, J., Popat, D., Gilligan, L. C., Abdi, L., Goh, E., Díaz‐Cano, S. J., Kircher, S., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae106 · Cited by 4
Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders
Kim, S., Chaudhary, P. K., & Kim, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111341 · Cited by 4
Actualités du syndrome de Cushing d’origine surrénalienne
Haissaguerre, M., & Tabarin, A. (2014) · Annales d Endocrinologie · doi:10.1016/s0003-4266(14)70025-3 · Cited by 3
Chevais, A., Urusova, L. S., Kuznetzov, N. S., Derkatch, D. А., Yukina, M. Y., & Beltsevich, D. G. (2020) · Problems of Endocrinology · doi:10.14341/probl12516 · Cited by 3
Lodish, M. B., Keil, M. F., & Stratakis, C. A. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_15 · Cited by 3
Self-citationNadella, K. S., Berthon, A. S., Almeida, M. Q., Levy, I., Faucz, F. R., & Stratakis, C. A. (2021) · Endocrine · doi:10.1007/s12020-020-02583-z · Cited by 3
Self-citationWNT pathway deregulation in adrenal cortex tumorigenesis
Wilmouth, J., Olabe, J., Roucher‐Boulez, F., & Val, P. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.08.016 · Cited by 2
Piñar-Gutiérrez, A., Mangas-Cruz, M. Á., de Lara-Rodríguez, I., Remón-Ruiz, P., Can-Sánchez, D. J. D., Castillo, M. T., & Pumar-López, A. (2024) · Endocrinología Diabetes y Nutrición · doi:10.1016/j.endinu.2024.01.005 · Cited by 2
Advancements in the research of the structure, function, and disease-related roles of ARMC5
Qu, Y., Yang, F., Deng, Y., Li, H., Zhou, Y., & Zhang, X. (2025) · Frontiers of Medicine · doi:10.1007/s11684-024-1108-0 · Cited by 2
Keil, M. F., & Stratakis, C. A. (2013) · Humana Press eBooks · doi:10.1007/978-1-60761-395-4_14 · Cited by 2
Self-citationGenetic Basis of Bilateral Macronodular Hyperplasia
Ravikumar, A., & Levine, A. C. (2014) · Endocrine Practice · doi:10.4158/ep14518.ra · Cited by 2
Could Targeting Hormone Receptors be an Effective Strategy in Management of Adrenal Hyperplasia?
Lefèbvre, H., Prévost, G., & Louiset, E. (2014) · International Journal of Endocrine Oncology · doi:10.2217/ije.14.10 · Cited by 2
Pathophysiology and Genetic Landscape of Adrenocortical Tumors and Hyperplasias
Ghorayeb, N. E., Bourdeau, I., & Lacroix, A. (2017) · Contemporary Endocrinology · doi:10.1007/978-3-319-62470-9_7 · Cited by 2
Park, S. S., Lee, J., Lee, Y., Kim, T. M., Kim, Y.-G., Kim, S.-J., Lee, K. E., Choi, M. H., Seong, M., & Kim, J. S. (2026) · European Journal of Endocrinology · doi:10.1093/ejendo/lvag014 · Cited by 1
Germline and somatic genetic drivers of adrenocortical tumours
Bouys, L., & Bertherat, J. Y. (2026) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2026.102099 · Cited by 1
Self-citationCushing’s Syndrome and Glucocorticoid Excess
Koch, C. A. (2018) · Updates in hypertension and cardiovascular protection · doi:10.1007/978-3-319-59918-2_28 · Cited by 1
The role of ARMC5 in adrenal pathology: a brief review
Smith, S. J. (2022) · Diagnostic histopathology · doi:10.1016/j.mpdhp.2022.05.003 · Cited by 1
Cushing-szindrómát okozó macronodularis mellékvese-hyperplasia ARMC5-génmutáció következtében.
Hella, Z., Tõke, J., Patócs, A., Varga, Z. A., Dabasi, G., Kovács, G. L., & Tóth, M. (2023) · Orvosi Hetilap · doi:10.1556/650.2023.32817 · Cited by 1
Piñar-Gutiérrez, A., Mangas-Cruz, M. Á., de Lara-Rodríguez, I., Remón-Ruiz, P., Can-Sánchez, D. J. D., Castillo, M. T., & Pumar-López, A. (2024) · Endocrinología Diabetes y Nutrición (English ed ) · doi:10.1016/j.endien.2024.03.016 · Cited by 1
Genetics of Benign Adrenocortical Tumors
Hannah‐Shmouni, F., & Stratakis, C. A. (2016) · Springer eBooks · doi:10.1007/978-3-319-44136-8_3 · Cited by 1
Self-citationLirov, R., & Gauger, P. G. (2018) · Springer eBooks · doi:10.1007/978-981-10-1124-5_26 · Cited by 1
Stratakis, C. A. (2024) · HORMONES · doi:10.1007/s42000-024-00607-1 · Cited by 1
Self-citationCorrelação da expressão de GLUT1, HK1, HK2 e HK3 com alta captação de 18 F-FDG em hiperplasia
Cavalcante, I. P. (2014)
Síndrome de Cushing adrenal dependiente de hormona luteinizante
Arias, E. A. S., & Castillo, V. A. (2016) · Revista Argentina de Endocrinología y Metabolismo · doi:10.1016/j.raem.2016.05.006
Molecular Pathogenesis of Primary Adrenal Cushing’s Syndrome
Ghorayeb, N. E., Bourdeau, I., & Lacroix, A. (2016) · Springer eBooks · doi:10.1007/978-3-319-45950-9_4
Genetic Disorders of Adrenocortical Function
Hannah‐Shmouni, F., & Stratakis, C. A. (2016) · Endocrinology · doi:10.1007/978-3-319-27318-1_29-1
Self-citationGenetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
Libé, R., Assié, G., Groussin, L., Bertherat, J. Y., & BERTAGNA, X. Y. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800892-8.00015-4
Self-citationMolecular and cellular regulation of primary macronodular adrenal hyperplasia
Fragoso, M. C. B. V., & Lotfi, C. F. P. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.08.007
La indumentaria púnica representada en las terracotas de Ibiza
Pedraz, M. P. S. N. (1983) · Archivo Español de Arqueología
El antimilitarismo en el movimiento antiguerra
Barranco, C. P. (2003) · Africa América Latina, cuadernos: Revista de análisis sur-norte para una cooperación solidaria
Genetic Disorders of Adrenocortical Function
Hannah‐Shmouni, F., & Stratakis, C. A. (2017) · Endocrinology · doi:10.1007/978-3-319-27318-1_29-2
Self-citationGenetic Disorders of Adrenocortical Function
Hannah‐Shmouni, F., & Stratakis, C. A. (2018) · Endocrinology · doi:10.1007/978-3-319-44675-2_29
Self-citationAlexandraki, K., & Grossman, A. B. (2022) · Springer eBooks · doi:10.1007/978-3-030-90684-9_8
Genetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and Hyperplasias
Drougat, L., & Stratakis, C. A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64349-0
Self-citationPrimary Bilateral Macronodular Adrenal Hyperplasia
Lacroix, A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64318-0
(2022) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477251-4
Molecular tools for diagnosing diseases of the adrenal cortex
Faucz, F. R., Maria, A. G., & Stratakis, C. A. (2023) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000809
Self-citationLerário, A. M., Mohan, D. R., Giordano, T. J., & Hammer, G. D. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00013-7
He, W.-T., Wang, X., Song, W., Song, X., Lu, Y., Lv, Y.-K., He, T., Yu, X., & Hu, S.-H. (2021) · Figshare · doi:10.6084/m9.figshare.14570281
Hereditary Predisposition to Adrenal Cortical Lesions
(2024) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477473-07
Primary bilateral macronodular adrenal hyperplasia
Lacroix, A. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00270-3
Wang, F., Luo, Y., Liu, Z., & Xie, J. (2025) · Diagnostic Pathology · doi:10.1186/s13000-025-01671-w
de Araújo, L. J. T., Salame, A. A. M., Charchar, H. L. S., Mangone, F. R., Mariani, B. M. P., Souza, L. M. D. S. E., Ledesma, F. L., Nishi, M. Y., Almeida, M. Q., Lerário, A. M., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-7134493/v1
Barlas, T., Kayhan, G., Yalçın, M. M., Cerit, E. T., Aktürk, M., Törüner, F. B., Sözen, T., Poyraz, A., Karakoç, M. A., & Altınova, A. E. (2025) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/a-2676-1138
Luo, H., Lao, L., Au, K. S., Northrup, H., He, X., Forget, D., Gauthier, M., Coulombe, B., Bourdeau, I., Shi, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26667849
He, W.-T., Wang, X., Song, W., Song, X.-D., Lu, Y.-J., Lv, Y.-K., He, T., Yu, X.-F., & Hu, S.-H. (2021) · Figshare · doi:10.6084/m9.figshare.14570278
Luo, H., Lao, L., Au, K. S., Northrup, H., He, X., Forget, D., Gauthier, M., Coulombe, B., Bourdeau, I., Shi, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26667852
Tang, P., Zhang, J., Peng, S., Yan, X., Wang, Y., Wang, S., Zhang, Y., Liu, G., Xu, J., Huang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22619873
Tang, P., Zhang, J., Peng, S., Yan, X., Wang, Y., Wang, S., Zhang, Y., Liu, G., Xu, J., Huang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22619870
Tang, P., Zhang, J., Peng, S., Yan, X., Wang, Y., Wang, S., Zhang, Y., Liu, G., Xu, J., Huang, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22619867
Adrenal tumors causing Cushing syndrome: Genetics, molecular advances, diagnosis, and treatment
Vaduva, P., Violon, F., & Bertherat, J. Y. (2026) · Elsevier eBooks · doi:10.1016/b978-0-323-96100-4.00017-x
Self-citationCushing syndrome in pediatrics: From molecular pathogenesis to therapeutic management
Nicolaides, N. C., & Stratakis, C. A. (2026) · Elsevier eBooks · doi:10.1016/b978-0-323-96100-4.00021-1
Self-citationGenetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and Hyperplasias
Drougat, L., & Stratakis, C. A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00417-9
Self-citationBonnet-Serrano, F. (2021) · theses.fr (ABES) · doi:10.70675/022bf2ffz5b62z4303z9460z55629099aab6
Chasseloup, F. (2022) · theses.fr (ABES) · doi:10.70675/ddec5b6dzf376z4aadz9970zf0bf052c6f02
Arai, M., Ono, M., Inoue, R., Tajima, K., Aomori, K., Tatenuma, T., Suzuki, S., Yamanaka, S., Fujii, S., Terauchi, Y., et al. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1852080
Metadata
- Authors
- Faucz, F. R., Zilbermint, M., Lodish, M. B., Szarek, E., Trivellin, G., Sinaii, N., Berthon, A., Libé, R., Assié, G., Espiard, S., Drougat, L., Ragazzon, B., Bertherat, J., & Stratakis, C. A.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- National Institutes of Health (US)
- Inserm (FR)
- Corresponding author
- Stratakis, Constantine A.
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2014-06
- Volume
- 99
- Issue
- 6
- Pages
- E1113-E1119
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4037724
- OpenAlex
- W2040928761
- Cited by
- 166
- References
- 22
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 16 · 2023: 11 · 2022: 14 · 2021: 9 · 2020: 18 · 2019: 13 · 2018: 16 · 2017: 11 · 2016: 14 · 2015: 18 · 2014: 9
- FWCI
- 17.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion, public-domain)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Keywords
- macronodular adrenal hyperplasia, ARMC5, germline mutations, Cushing's syndrome, cortisol, ACTH, urinary 17-hydroxycorticosteroids, tumor suppressor, genetic counseling
- MeSH terms
- Adult, Cushing Syndrome, DNA Mutational Analysis, Female, Gene Frequency, Humans, Male, Middle Aged, Cohort Studies, Genetic Predisposition to Disease, Mutation, Missense, Tumor Suppressor Proteins, Armadillo Domain Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
