Affinage

ARMC5

Armadillo repeat-containing protein 5 · UniProt Q96C12

Length
935 aa
Mass
97.7 kDa
Annotated
2026-06-09
66 papers in source corpus 14 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ARMC5 is a cytosolic armadillo repeat- and BTB domain-containing substrate adaptor for a CUL3-RBX1 E3 ubiquitin ligase that directs ubiquitination and proteasomal degradation of selected substrates to control transcriptional capacity and cell fate (PMID:35687106, PMID:35862218). Its principal substrate is RNA Polymerase II: CRL3-ARMC5 ubiquitinates RPB1/POLR2A and, in fact, all twelve Pol II subunits, restraining the cellular Pol II pool such that ARMC5 loss causes RPB1 accumulation and dysregulation of a defined subset of effector genes (PMID:35687106, PMID:38225631). ARMC5 selectively recognizes excess and defective promoter-proximal, chromatin-bound Pol II that is CDK9-phosphorylated and SPT5-deficient, engaging this pool through its BTB domain and targeting it for VCP/p97-dependent degradation, while the Integrator gatekeeper INTS8 cooperates to prevent release of transcriptionally incompetent Pol II into elongation (PMID:39667934, PMID:39854452). Beyond Pol II, ARMC5 uses its armadillo repeat domain to bind and degrade the SCAP-free pool of full-length SREBF/SREBP transcription factors, governing SREBF2 target genes in adrenocortical cells and stearoyl-CoA desaturase-driven fatty acid desaturation in adipocytes, and it controls the half-life of the antioxidant regulator NRF1 (PMID:35862218, PMID:39491648, PMID:36040830). ARMC5 is itself a CUL3 substrate, interacting with CUL3 via its BTB domain and undergoing CUL3-dependent ubiquitination and degradation, and is stabilized by the deubiquitinase USP7 (PMID:32023208, PMID:33544460). Functionally, ARMC5 is essential for early mouse embryonic development and gastrulation, supports T-cell proliferation and Th1/Th17 differentiation, and acts as an adrenocortical tumor suppressor by promoting apoptosis and restraining cell-cycle progression, with patient-derived inactivating mutations in the BTB or armadillo domains abrogating CUL3 binding, substrate binding, and degradation activity (PMID:28911199, PMID:28169274, PMID:32023208, PMID:35862218). Inactivating ARMC5 mutations cause primary bilateral macronodular adrenocortical hyperplasia by enlarging the Pol II pool and dysregulating steroidogenic effector genes (PMID:35687106, PMID:28911199).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2013 Medium

    Established ARMC5 as a candidate adrenocortical tumor suppressor, the first functional clue to its biological role.

    Evidence ARMC5 inactivation and overexpression in adrenocortical cell-culture models scoring steroidogenesis and cell survival

    PMID:24283224

    Open questions at the time
    • No molecular mechanism for tumor suppression
    • No substrate or pathway identified
    • Single lab cell-culture phenotype
  2. 2015 Medium

    Showed that ARMC5 promotes apoptosis and that disease-associated mutations abolish this activity, linking loss of function to disease.

    Evidence Overexpression of wild-type vs mutant (missense, p.F700del) ARMC5 in H295R and HeLa cells with apoptosis assays

    PMID:25853793

    Open questions at the time
    • Mechanism connecting ARMC5 to apoptosis machinery unknown
    • Overexpression-based readout
    • No endogenous-level validation
  3. 2017 High

    Defined ARMC5's organismal requirements — embryonic gastrulation, adrenal steroidogenesis/Wnt signaling, and T-cell immunity — placing it in development and immune function.

    Evidence Armc5 knockout and heterozygous mice with histology, hormone and PKA/Wnt readouts, and T-cell proliferation/differentiation/apoptosis assays in EAE and LCMV models

    PMID:28169274 PMID:28911199

    Open questions at the time
    • Molecular substrate driving these phenotypes not yet identified
    • Connection between adrenal and immune roles unclear
    • Causal mediator of Wnt/PKA changes undefined
  4. 2017 Low

    Provided first interactome and disease-relevant cell evidence, hinting ARMC5 acts through multiple protein partners while confirming proliferative/steroidogenic control in PMAH cells.

    Evidence Yeast 2-hybrid screen identifying 16 binding partners; siRNA and overexpression in primary PMAH cell cultures

    PMID:28169274 PMID:28676429

    Open questions at the time
    • Y2H interactions not validated by orthogonal methods
    • Individual partners not functionally confirmed
    • Biochemical activity of ARMC5 still unknown
  5. 2020 High

    Identified ARMC5 as a CUL3 partner via its BTB domain, revealing it is itself an E3 ligase substrate and connecting it to cell-cycle control and patient mutations.

    Evidence Reciprocal Co-IP, proteasome inhibition, flow-cytometry cell cycle analysis, and BTB-mutant expression in cell lines

    PMID:32023208

    Open questions at the time
    • Whether ARMC5 acts as adaptor versus substrate of CUL3 not resolved here
    • Functional substrates of an ARMC5-CUL3 complex unknown
    • Mechanism linking CUL3 to cyclin E unclear
  6. 2021 Medium

    Showed USP7 deubiquitinates and stabilizes ARMC5, establishing post-translational regulation of ARMC5 abundance with cell-cycle and proliferation consequences.

    Evidence Deubiquitinase library screen, Co-IP in vivo and in vitro, knockdown/overexpression in renal cancer cells

    PMID:33544460

    Open questions at the time
    • Physiological context of USP7-ARMC5 regulation beyond renal cancer cells unclear
    • Single lab
    • Whether USP7 regulates ARMC5 substrate output not tested
  7. 2022 High

    Resolved the central mechanism: ARMC5 is a CUL3-RBX1 substrate adaptor that ubiquitinates RNA Pol II (RPB1), with loss enlarging the Pol II pool and dysregulating genes, and disease mutants showing altered RPB1 binding.

    Evidence Co-IP, in vitro and cellular ubiquitination assays, Armc5 KO mice with RPB1 quantification, RNA-seq, and patient-sample IHC

    PMID:35687106

    Open questions at the time
    • Which Pol II states are selected not yet defined
    • How enlarged Pol II pool causes specific gene dysregulation unclear
    • Other substrates not yet enumerated
  8. 2022 High

    Extended substrate range to SREBF and NRF1, showing ARMC5 uses distinct domains (Armadillo for SREBF, BTB for CUL3) to degrade lipogenic and antioxidant regulators.

    Evidence Biochemical purification with SREBF bait, Co-IP, colocalization, ubiquitination and half-life assays, siRNA and SREBF2-rescue in H295R and adrenocortical cells

    PMID:35862218 PMID:36040830

    Open questions at the time
    • Selectivity rules distinguishing SREBF/NRF1 substrates from Pol II unknown
    • NRF1 work single lab/Medium confidence
    • Relative contribution of each substrate to PBMAH unresolved
  9. 2024 High

    Defined the Pol II degradation mechanism at genome scale: CRL3-ARMC5 clears excess/defective promoter-proximal and free-pool Pol II, with INTS8 acting as a release gatekeeper, and showed ARMC5 controls all 12 Pol II subunits with a human disease link to spina bifida.

    Evidence ARMC5/INTS8 KO human cells with ChIP-seq, RNA-seq, Pol II occupancy and epistasis; Armc5 KO mouse proteomics of all Pol II subunits; Co-IP with NTD patient mutants

    PMID:38225631 PMID:39667934

    Open questions at the time
    • How ARMC5 distinguishes defective from productive Pol II not fully defined
    • Mechanistic relationship with INTS8 incompletely mapped
    • Generality of NTD association across patient cohorts limited
  10. 2025 High

    Pinpointed the molecular recognition signal: ARMC5 targets chromatin-bound, CDK9-phosphorylated, SPT5-deficient promoter-proximal Pol II for VCP/p97-dependent degradation in a BTB-dependent manner, defining a phospho-dependent degradation model.

    Evidence Unbiased proteomics, genome-wide ChIP, Co-IP with CDK9 inhibitors, BTB-domain mutants

    PMID:39854452

    Open questions at the time
    • Direct phospho-mark read by ARMC5 not structurally defined
    • Interplay of CDK9 phosphorylation and SPT5 absence not fully dissected
    • Role of VCP/p97 versus proteasome partitioning unclear
  11. 2024 High

    Demonstrated tissue-specific substrate selectivity in lipid metabolism: ARMC5 degrades only the SCAP-free pool of full-length SREBF1, and is required for fatty acid desaturation in adipocytes.

    Evidence Adipocyte-specific Armc5 KO mice with ATAC-seq and lipidomics, 3T3-L1 adipocytes, CHO Scap-deficiency and SCAP competition assays

    PMID:39491648

    Open questions at the time
    • Mechanism by which SCAP shields SREBF1 from ARMC5 not structurally resolved
    • Why increased full-length SREBF1 yields decreased transcriptional output unexplained
    • Link between adipocyte and adrenal substrate logic unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single CUL3-ARMC5 adaptor achieves selectivity among structurally unrelated substrates (Pol II subunits, SREBF, NRF1) and how this maps onto the distinct developmental, immune, adrenal, and metabolic phenotypes remains unresolved.
  • No structural model of ARMC5 substrate recognition
  • Substrate hierarchy/competition in different tissues unknown
  • Causal substrate(s) for each disease phenotype not isolated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 4 GO:0060090 molecular adaptor activity 3 GO:0016874 ligase activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005634 nucleus 2 GO:0005829 cytosol 1
Pathway
R-HSA-392499 Metabolism of proteins 4 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1430728 Metabolism 2 R-HSA-1640170 Cell Cycle 2
Partners
CDK9CUL3INTS8NRF1POLR2ARBX1SREBF1USP7
Complex memberships
CUL3-RBX1 E3 ubiquitin ligase (CRL3-ARMC5)

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 ARMC5 inactivation decreased steroidogenesis in vitro, and its overexpression altered cell survival, establishing ARMC5 as a putative tumor suppressor gene in adrenocortical cells. Cell-culture models with ARMC5 inactivation and overexpression The New England journal of medicine Medium 24283224
2015 ARMC5 missense mutants and the p.F700del deletion are unable to induce apoptosis in H295R and HeLa cell lines, unlike wild-type ARMC5, demonstrating that ARMC5 promotes apoptosis and disease-associated mutations abrogate this function. Overexpression of wild-type and mutant ARMC5 in H295R and HeLa cells with apoptosis assays The Journal of clinical endocrinology and metabolism Medium 25853793
2017 Armc5 knockout mice die during early embryonic development around E6.5–E8.5 and fail to undergo gastrulation (absence of mesoderm at E7.5), establishing an essential role for ARMC5 in early embryonic development. Armc5 knockout mouse model with histological analysis at E7.5 Human molecular genetics High 28911199
2017 Armc5 haploinsufficiency (Armc5+/- mice) leads to age-dependent decrease in corticosterone associated with decreased PKA catalytic subunit α (Cα) expression, followed later by hypercorticosteronemia with increased PKA/Cα expression and abnormal activation of Wnt/β-catenin signaling in zona fasciculata cells. Armc5 heterozygous mouse model with hormone measurements, RNA/protein expression analysis, and adrenocortical tissue immunohistochemistry at multiple ages Human molecular genetics High 28911199
2017 Armc5 deletion in mice compromises T-cell proliferation, differentiation into Th1 and Th17 cells, and increases T-cell apoptosis, establishing a role for ARMC5 in T-cell immune responses. Armc5 knockout mouse model with T-cell proliferation assays, differentiation assays, and apoptosis measurements; in vivo infection models (EAE, LCMV) Nature communications High 28169274
2017 Yeast 2-hybrid assays identified 16 ARMC5-binding partners, establishing that ARMC5 functions through interaction with multiple signaling pathway proteins. Yeast 2-hybrid assay Nature communications Low 28169274
2017 ARMC5 silencing in non-mutated PMAH cell cultures decreased steroidogenesis-related gene expression and increased CCNE1 mRNA expression and proliferative capacity without affecting cell viability, while ARMC5 overexpression induced cell death in PMAH-mutated cell cultures. siRNA silencing and overexpression in primary PMAH cell cultures with RT-PCR, proliferation, and viability assays Molecular and cellular endocrinology Medium 28676429
2020 ARMC5 interacts with CUL3 via its BTB domain; this interaction leads to ARMC5 ubiquitination and proteasomal degradation. ARMC5 alters cell cycle progression (G1/S phases and cyclin E accumulation), and this effect is blocked by CUL3. BTB-domain missense mutations found in patients abolish CUL3 interaction and ARMC5 degradation. Co-immunoprecipitation, proteasome inhibitor treatment, flow cytometry cell cycle analysis, mutant ARMC5 expression in cell lines Endocrine-related cancer High 32023208
2021 USP7 interacts with ARMC5 in vivo and in vitro, deubiquitinates ARMC5, and stabilizes it via the ubiquitin-proteasome pathway; USP7-mediated ARMC5 stabilization regulates G1/S cell cycle transition and renal cancer cell proliferation. Co-immunoprecipitation, deubiquitinase library screen, Western blot, overexpression and knockdown assays in renal cancer cells Journal of cellular and molecular medicine Medium 33544460
2022 ARMC5 functions as a substrate adaptor in a CUL3-RBX1 E3 ubiquitin ligase complex that ubiquitinates RPB1 (the largest subunit of RNA Pol II). ARMC5 deletion reduces RPB1 ubiquitination and causes accumulation of RPB1 and an enlarged Pol II pool, dysregulating a subset of genes. Mutant ARMC5 from PBMAH patients shows altered binding with RPB1. Co-immunoprecipitation, ubiquitination assays in vitro and in cells, Armc5 knockout mice with RPB1 protein quantification, RNA-seq transcriptome analysis, patient sample immunohistochemistry Nucleic acids research High 35687106
2022 ARMC5 interacts with full-length SREBF (SREBP) through its Armadillo repeat domain and with CUL3 through its BTB domain, and promotes proteasome-dependent degradation of full-length SREBF via ubiquitination. ARMC5 missense mutations in its Armadillo repeat attenuate SREBF interaction; BMAH-associated mutations abolish SREBF degradation. In H295R cells, ARMC5 silencing increases full-length SREBFs and upregulates SREBF2 target genes; ARMC5-siRNA-mediated cell growth is abrogated by simultaneous SREBF2 knockdown. Biochemical purification with SREBF as bait, Co-IP, colocalization assays, proteasome inhibitor treatment, siRNA knockdown in H295R cells, mutant ARMC5 expression JCI insight High 35862218
2022 ARMC5 is involved in NRF1 ubiquitination and controls NRF1 half-life in adrenocortical cells. ARMC5 inactivation increases NRF1 expression, elevates antioxidant enzymes (SODs and peroxiredoxins), alters adrenocortical steroidogenesis via the p38 pathway, decreases cell sensitivity to ferroptosis, and increases cell viability. siRNA knockdown in adrenocortical cells, ubiquitination assays, half-life measurements, Western blot for NRF1/SOD/PRDX, p38 pathway inhibitor studies, ferroptosis sensitivity assays Endocrine-related cancer Medium 36040830
2024 CRL3ARMC5 targets excessive and defective RNA Pol II at initial stages of the transcription cycle (promoter-proximal zone and free pool). Upon ARMC5 loss, RNA Pol II accumulates in the free pool and promoter-proximal zone but is not released into elongation. Integrator subunit 8 (INTS8) acts as a gatekeeper preventing release of excess Pol II into gene bodies. Combined loss of ARMC5 and INTS8 leads to uncontrolled release of transcriptionally incompetent Pol II into early elongation, with detrimental effects on cell growth. ARMC5 knockout and INTS8 knockout human cells, ChIP-seq, RNA-seq, genome-wide Pol II occupancy analysis, cell growth assays, double-mutant epistasis Molecular cell High 39667934
2024 ARMC5 controls degradation of not only POLR2A but also most of the other 11 Pol II subunits, indicating ARMC5-dependent E3 ligase activity controls degradation of the entire Pol II complex. ARMC5 knockout dysregulates 106 genes in neural progenitor cells including FOLH1. ARMC5 mutations identified in spina bifida patients impair ARMC5 interaction with Pol II and reduce Pol II ubiquitination. Armc5 knockout mice with proteomic quantification of all Pol II subunits, RNA-seq in neural progenitor cells, ubiquitination assays, Co-IP with patient mutants, NTD incidence scoring Genome biology High 38225631
2025 ARMC5 acts as a CUL3 adaptor targeting promoter-proximal, chromatin-bound Pol II lacking SPT5 for VCP/p97-dependent degradation. ARMC5 targets promoter-proximal Pol II in a BTB domain-dependent manner. Interaction between ARMC5 and Pol II requires CDK9, supporting a phospho-dependent degradation model. Unbiased proteomic screening, genome-wide ChIP analysis, Co-IP, biochemical interaction assays with CDK9 inhibitors, BTB domain mutants Science advances High 39854452
2024 ARMC5 selectively degrades SCAP-free full-length SREBF1 (but not SCAP-associated SREBF1) and is essential for fatty acid desaturation in adipocytes. Adipocyte-specific Armc5 KO mice show dramatic downregulation of all stearoyl-CoA desaturases (Scd), decreased unsaturated fatty acids, increased saturated fatty acids, and paradoxically diminished SREBF1 transcriptional activity at Scd1 locus despite increased full-length SREBF1 protein. Adipocyte-specific Armc5 KO mice, ATAC-seq, fatty acid composition analysis, Armc5-deficient 3T3-L1 adipocytes, CHO cells with Scap deficiency, SCAP overexpression competition assay The Journal of biological chemistry High 39491648

Source papers

Stage 0 corpus · 66 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. The New England journal of medicine 287 24283224
2015 ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. The Journal of clinical endocrinology and metabolism 138 25853793
2014 Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. The Journal of clinical endocrinology and metabolism 125 24601692
2014 ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism 118 24708098
2014 ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. The Journal of clinical endocrinology and metabolism 96 24905064
2015 Primary Aldosteronism and ARMC5 Variants. The Journal of clinical endocrinology and metabolism 87 25822102
2015 Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. The Journal of clinical endocrinology and metabolism 78 25279498
2016 A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype. Endocrine 64 27094308
2022 Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients. European journal of endocrinology 47 35521700
2017 Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function. Human molecular genetics 45 28911199
2015 The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia. European journal of endocrinology 44 26162405
2017 Armc5 deletion causes developmental defects and compromises T-cell immune responses. Nature communications 43 28169274
2016 ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia. European journal of endocrinology 43 26604299
2017 The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH). Molecular and cellular endocrinology 39 28676429
2015 ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions. Journal of human hypertension 39 26446392
2016 Analysis of ARMC5 expression in human tissues. Molecular and cellular endocrinology 32 27568465
2022 ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia. Nucleic acids research 31 35687106
2020 Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation. Endocrine-related cancer 24 32023208
2019 ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers. Journal of the Endocrine Society 22 31555754
2019 Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology. Current opinion in endocrine and metabolic research 21 32864505
2020 Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules. Frontiers in endocrinology 17 32117062
2024 CRL3ARMC5 ubiquitin ligase and Integrator phosphatase form parallel mechanisms to control early stages of RNA Pol II transcription. Molecular cell 16 39667934
2022 ARMC5-CUL3 E3 ligase targets full-length SREBF in adrenocortical tumors. JCI insight 15 35862218
2021 Deubiquitylation and stabilization of ARMC5 by ubiquitin-specific processing protease 7 (USP7) are critical for RCC proliferation. Journal of cellular and molecular medicine 15 33544460
2015 GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 15 26214113
2022 Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover. Endocrine-related cancer 13 36040830
2020 The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans. The Journal of clinical endocrinology and metabolism 13 32436940
2020 ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case reports in endocrinology 13 32934851
2017 Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia. Endocrine journal 13 29279458
2016 Do patients with incidentally discovered bilateral adrenal nodules represent an early form of ARMC5-mediated bilateral macronodular hyperplasia? Endocrine 13 27306888
2025 The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update. Orphanet journal of rare diseases 11 39910635
2024 ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans. Genome biology 11 38225631
2021 A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia. BMC medical genomics 11 33971873
2025 SPT5 regulates RNA polymerase II stability via Cullin 3-ARMC5 recognition. Science advances 10 39854452
2019 High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia. The Journal of steroid biochemistry and molecular biology 10 31014964
2020 Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X)). Endocrine journal 9 32713866
2018 Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report. Journal of medical case reports 9 29343284
2018 A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report. BMC medical genetics 9 29587644
2017 ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH). Endocrinology, diabetes & metabolism case reports 9 28458897
2023 Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations. BMC endocrine disorders 7 37029354
2022 A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing. Diagnostics (Basel, Switzerland) 7 36553033
2020 ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of clinical endocrinology and metabolism 7 32901291
2020 ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules. Archives of endocrinology and metabolism 6 32267363
2024 ARMC5 selectively degrades SCAP-free SREBF1 and is essential for fatty acid desaturation in adipocytes. The Journal of biological chemistry 5 39491648
2023 Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease. Endocrine pathology 5 37043100
2022 Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia. Frontiers in genetics 5 35368666
2020 ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome. Endocrine-related cancer 5 32638579
2024 The role of oxidative stress, glucocorticoid receptor and ARMC5 in lipid metabolism. Endocrine journal 4 38925988
2023 New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH). Molecular genetics & genomic medicine 4 36727580
2022 A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report. BMC endocrine disorders 4 35996143
2024 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 3 38630387
2024 Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation. JCEM case reports 2 38222860
2023 Allelic Variant of Armadillo Repeat Containing Protein 5 (ARMC5) in Myelolipoma Mimicking Pheochromocytoma: A Case Report. Cureus 2 36874660
2019 [Hereditary Cushing's syndrome caused by primary bilateral macronodular adrenal hyperplasia due to ARMC5 mutation with concomitant primary hyperparathyroidism: the first known case in Russia]. Problemy endokrinologii 2 31271710
2025 Advancements in the research of the structure, function, and disease-related roles of ARMC5. Frontiers of medicine 1 39960568
2025 ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report. BMC medical genomics 1 40065289
2025 Unexplained Hypokalemia in a Patient With Obesity Harboring an Armadillo Repeat-Containing 5 (ARMC5) Gene Variant: A Case Report. Cureus 1 40130155
2025 Association between ARMC5 mutation with bilateral macronodular adrenal hyperplasia and primary aldosteronism: A case report. Clinical nephrology 1 40205919
2025 Bilateral Adrenalectomy for Primary Bilateral Macronodular Adrenocortical Hyperplasia With a Novel ARMC5 Mutation Site. Journal of clinical medicine research 1 41488724
2023 [Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.]. Orvosi hetilap 1 37573559
2026 Primary Bilateral Macronodular Adrenal Hyperplasia Associated With ARMC5 Variant and Pituitary Microadenoma. JCEM case reports 0 41503047
2025 Efficacy of Propranolol Combined with Different Modalities of Unilateral Adrenalectomy in a Case Series of 4 ARMC5-mutated Patients. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 0 40355100
2025 A NEW-FOUND ARMC5 GERMLINE VARIANT IN PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA USING WHOLE-EXOME SEQUENCING AND PROTEIN PREDICTIVE ANALYSIS. Acta endocrinologica (Bucharest, Romania : 2005) 0 40530093
2025 Nodule density on CT-scan correlates with CYP11B1 expression in a patient with ARMC5 mutated primary bilateral macronodular adrenal hyperplasia. Diagnostic pathology 0 40739578
2025 A Novel ARMC5 Germline Variant in Siblings With Primary Bilateral Macronodular Adrenal Hyperplasia and Colonic Adenomas. JCEM case reports 0 40895499
2023 ARMC5-negative primary bilateral macronodular adrenal hyperplasia. BMJ case reports 0 37419498

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