| Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series. | Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.
Salame AAM, Charchar HLS, de Oliveira Dourado JP, Mendonca B, Alencar GA, de Araújo LJT, Arantes PR, Rabelo NN, Figueiredo EG, Fragoso MCBV. | 06/28/2024 |
| Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms. | Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.
Piñar-Gutiérrez A, Mangas-Cruz MÁ, de Lara-Rodríguez I, Remón-Ruiz P, Del Can-Sánchez D, Tous Castillo M, Pumar-López A. | 04/1/2024 |
| ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans. | ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Luo H, Lao L, Au KS, Northrup H, He X, Forget D, Gauthier MS, Coulombe B, Bourdeau I, Shi W, Gagliardi L, Fragoso MCBV, Peng J, Wu J., Free PMC Article | 02/16/2024 |
| Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas. | Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.
Morelli V, Elli FM, Frigerio S, Vena W, Palmieri S, Lucca C, Maffini MA, Contarino A, Bagnaresi F, Mantovani G, Arosio M. | 08/28/2023 |
| Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease. | Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.
de Arruda Botelho MLA, Nishi MY, Ribeiro KB, Zerbini MCN. | 06/15/2023 |
| New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH). | New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).
Giacché M, Panarotto A, Mori L, Poliani PL, Lanzi R, Lena MS, Castellano M., Free PMC Article | 04/14/2023 |
| Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover. | Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.
Cavalcante IP, Rizk-Rabin M, Ribes C, Perlemoine K, Hantel C, Berthon A, Bertherat J, Ragazzon B. | 10/15/2022 |
| ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia. | ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.
Lao L, Bourdeau I, Gagliardi L, He X, Shi W, Hao B, Tan M, Hu Y, Peng J, Coulombe B, Torpy DJ, Scott HS, Lacroix A, Luo H, Wu J., Free PMC Article | 08/27/2022 |
| Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients. | Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Bouys L, Vaczlavik A, Jouinot A, Vaduva P, Espiard S, Assié G, Libé R, Perlemoine K, Ragazzon B, Guignat L, Groussin L, Bricaire L, Cavalcante IP, Bonnet-Serrano F, Lefebvre H, Raffin-Sanson ML, Chevalier N, Touraine P, Jublanc C, Vatier C, Raverot G, Haissaguerre M, Maione L, Kroiss M, Fassnacht M, Christin-Maitre S, Pasmant E, Borson-Chazot F, Tabarin A, Vantyghem MC, Reincke M, Kamenicky P, North MO, Bertherat J. | 05/28/2022 |
| Deubiquitylation and stabilization of ARMC5 by ubiquitin-specific processing protease 7 (USP7) are critical for RCC proliferation. | Deubiquitylation and stabilization of ARMC5 by ubiquitin-specific processing protease 7 (USP7) are critical for RCC proliferation.
Yan G, Liu N, Tian J, Fu Y, Wei W, Zou J, Li S, Wang Q, Li K, Wang J., Free PMC Article | 09/25/2021 |
| ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome. | ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome.
Maria AG, Tatsi C, Berthon A, Drougat L, Settas N, Hannah-Shmouni F, Bertherat J, Faucz FR, Stratakis CA., Free PMC Article | 08/28/2021 |
| Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation. | Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation.
Cavalcante IP, Vaczlavik A, Drougat L, Lotfi CFP, Perlemoine K, Ribes C, Rizk-Rabin M, Clauser E, Fragoso MCBV, Bertherat J, Ragazzon B. | 07/24/2021 |
| ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1). | ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1).
Damjanovic SS, Antic JA, Elezovic-Kovacevic VI, Dundjerovic DM, Milicevic IT, Beleslin-Cokic BB, Ilic BB, Rodic GS, Berthon A, Maria AG, Faucz FR, Stratakis CA., Free PMC Article | 02/27/2021 |
| The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans. | The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans.
Joseph JJ, Zhou X, Zilbermint M, Stratakis CA, Faucz FR, Lodish MB, Berthon A, Wilson JG, Hsueh WA, Golden SH, Lin S., Free PMC Article | 02/13/2021 |
| Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules. | Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.
Mariani BMP, Nishi MY, Wanichi IQ, Brondani VB, Lacombe AMF, Charchar H, Pereira MAA, Srougi V, Tanno FY, Ceccato F, Regazzo D, Barbot M, Occhi G, Albiger NME, Vieira-Corrêa M, Kater CE, Scaroni C, Chambô JL, Zerbini MCN, Mendonca BB, Almeida MQ, Fragoso MCBV., Free PMC Article | 02/6/2021 |
| ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study. | ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.
Zilbermint M, Gaye A, Berthon A, Hannah-Shmouni F, Faucz FR, Lodish MB, Davis AR, Gibbons GH, Stratakis CA., Free PMC Article | 11/21/2020 |
| ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules. | ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules.
Conceição BBD, Cavalcante IP, Kremer JL, Auricino TB, Bento EC, Zerbini MCN, Fragoso MCBV, Lotfi CFP., Free PMC Article | 10/3/2020 |
| Research Letter: familial hyperaldosteronism type II does not appear to be caused by germline ARMC5 variants. | ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).
De Sousa SMC, Stowasser M, Feng J, Schreiber AW, Wang P, Hahn CN, Gordon RD, Torpy DJ, Scott HS, Gagliardi L. | 06/1/2019 |
| the involvement of ARMC5 in controlling proliferation and regulating cell cycle in primary macronodular adrenocortical hyperplasia cell cultures. | The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH).
Cavalcante IP, Nishi M, Zerbini MCN, Almeida MQ, Brondani VB, Botelho MLAA, Tanno FY, Srougi V, Chambo JL, Mendonca BB, Bertherat J, Lotfi CFP, Fragoso MCBV. | 01/19/2019 |
| The ARMC5 germline alterations c.1214delG (p.(Gly405Alafs*56)), c.318delG (p.(Ser107Argfs*30)), c.2564delT (p.(Val855Glyfs*62)), c.622_623insC (p.(Gln208Profs*15)) and c.523delG (p.(Ala175Profs*7)) were identified in 5 out of the 23 (21.7%) sporadic primary bilateral macronodular adrenal hyperplasia patients. | ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.
Yu L, Zhang J, Guo X, Chen X, He Z, He Q., Free PMC Article | 03/31/2018 |
| ARMC5 mutations are not present in a fairly large series of Caucasian patients with primary aldosteronism associated with bilateral adrenal disease. | ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.
Mulatero P, Schiavi F, Williams TA, Monticone S, Barbon G, Opocher G, Fallo F. | 01/27/2018 |
| ARMC5 expression pattern in human tissues is reported. | Analysis of ARMC5 expression in human tissues.
Berthon A, Faucz F, Bertherat J, Stratakis CA., Free PMC Article | 11/25/2017 |
| ARMC5 mutations are frequent in cortisol-secreting primary bilateral macronodular adrenal hyperplasia and seem to be associated with a particular pattern of the adrenal masses. | A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
Albiger NM, Regazzo D, Rubin B, Ferrara AM, Rizzati S, Taschin E, Ceccato F, Arnaldi G, Pecori Giraldi F, Stigliano A, Cerquetti L, Grimaldi F, De Menis E, Boscaro M, Iacobone M, Occhi G, Scaroni C. | 08/19/2017 |
| This is the first report demonstrating germline deletion of ARMC5 in familial primary macronodular adrenal hyperplasia. | GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA.
Suzuki S, Tatsuno I, Oohara E, Nakayama A, Komai E, Shiga A, Kono T, Takiguchi T, Higuchi S, Sakuma I, Nagano H, Hashimoto N, Mayama T, Koide H, Sasano H, Nakatani Y, Imamoto T, Ichikawa T, Yokote K, Tanaka T. | 08/6/2016 |
| study describes members of a French-Canadian bilateral macronodular adrenal hyperplasia kindred with beta-adrenergic and V1-vasopressin regulation of cortisol including 7 with subclinical and 2 with clinical Cushing syndrome; a heterozygous germline ARMC5 mutation was identified in the index case that segregates with the disease | ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.
Bourdeau I, Oble S, Magne F, Lévesque I, Cáceres-Gorriti KY, Nolet S, Awadalla P, Tremblay J, Hamet P, Fragoso MC, Lacroix A. | 05/14/2016 |