Affinage

ANKRD26

Ankyrin repeat domain-containing protein 26 · UniProt Q9UPS8

Length
1710 aa
Mass
196.4 kDa
Annotated
2026-06-09
48 papers in source corpus 19 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ANKRD26 is a membrane- and centrosome-associated scaffold protein that controls cell proliferation, differentiation, and energy homeostasis, primarily through restraint of cytokine-receptor and ERK signaling (PMID:24430186, PMID:36794499, PMID:21669876). It binds and shapes the plasma membrane through an N-terminal amphipathic structure and self-associates into clusters in response to retinoic acid, organizing signaling platforms required for differentiation (PMID:38493476). In hematopoiesis, ANKRD26 is expressed in early erythroid, megakaryocyte, and granulocyte progenitors and is progressively silenced as differentiation proceeds; this silencing is enforced by RUNX1 and FLI1 binding within its 5' UTR (PMID:24430186, PMID:36794499, PMID:38757516). ANKRD26 physically interacts with the type I cytokine receptors MPL, EPOR, and G-CSFR and prevents their internalization, so that failure to silence it sustains receptor signaling and ERK activation, impairing proplatelet formation and causing inherited thrombocytopenia (THC2); ERK inhibition rescues the proplatelet defect (PMID:24430186, PMID:36794499). Disease-causing 5' UTR mutations, N-terminal truncating mutations, and a WAC-ANKRD26 fusion all act through sustained or ectopic ANKRD26 expression and MAPK/ERK activation rather than loss of function (PMID:21211618, PMID:28100250, PMID:33857290). At the centriole, ANKRD26 is a distal-appendage protein that recruits PIDD1 to mature centrioles to activate the PIDDosome (PIDD1-RAIDD-Caspase-2) in response to centrosome amplification, limiting proliferation; a tumor-associated mutation disrupts this recruitment (PMID:33350495, PMID:33350486). ANKRD26 also cooperates with TALPID3 to recruit FBF1 to ciliary transition fibers, a function conserved from C. elegans (PMID:32366837). In metabolism, loss of Ankrd26 in mice causes obesity, hyperphagia, primary cilia defects in appetite-controlling hypothalamic neurons, and enhanced adipose insulin sensitivity, with constitutive ERK activation driving adipogenesis through C/EBPδ, KLF15, and PPARγ2 (PMID:18162531, PMID:21669876, PMID:24633808, PMID:21842266).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 2007 Medium

    Establishing whether ANKRD26 has a physiological role required an in vivo model; partial inactivation in mice defined it as a regulator of energy homeostasis and growth.

    Evidence Mutant mouse with partial gene inactivation, metabolic phenotyping and hypothalamic immunohistochemistry

    PMID:18162531

    Open questions at the time
    • Molecular mechanism linking ANKRD26 loss to hyperphagia not defined
    • Partial rather than complete inactivation
    • phospho-Akt/mTOR elevation correlative
  2. 2011 Medium

    Connecting the obesity phenotype to a signaling defect, ANKRD26 loss was shown to drive adipogenesis via constitutive ERK activation and to regulate adipose insulin responsiveness independent of obesity.

    Evidence Ankrd26-/- MEFs with adipogenesis assays and MEK inhibitor rescue; pair-fed mutant mice with glucose tolerance and phospho-insulin receptor readouts

    PMID:21669876 PMID:21842266

    Open questions at the time
    • How ANKRD26 normally suppresses ERK is unresolved
    • Single lab
    • no direct molecular link from ANKRD26 to MEK/ERK
  3. 2011 Medium

    Distinguishing the pathomechanism of THC2 5' UTR mutations, reporter assays showed they increase ANKRD26 expression, indicating gain-of-function rather than haploinsufficiency.

    Evidence Luciferase reporter assay with wild-type and mutant 5' UTR

    PMID:21211618

    Open questions at the time
    • Reporter system rather than endogenous locus
    • downstream signaling consequence not addressed here
  4. 2012 Medium

    To identify the molecular partners through which ANKRD26 acts in adipogenesis, an interaction screen defined TRIO, GPS2, DIPA, and HMMR as binding partners that each suppress adipocyte differentiation.

    Evidence Yeast two-hybrid and Co-IP, siRNA knockdown and adipogenesis assays in 3T3-L1, subcellular localization

    PMID:22666460

    Open questions at the time
    • Functional hierarchy among partners unclear
    • C-terminus-driven GPS2/DIPA relocalization mechanism undefined
    • single lab
  5. 2014 High

    Defining the mechanism of THC2, the silencing of ANKRD26 by RUNX1/FLI1 was shown to be disrupted by patient mutations, and the resulting sustained expression impairs proplatelet formation through ERK.

    Evidence Patient primary megakaryocytes, ChIP/binding for RUNX1 and FLI1, proplatelet assays, ERK inhibition rescue

    PMID:24430186

    Open questions at the time
    • Direct ANKRD26 effector linking to ERK not yet identified at this stage
    • thrombopoietin/MPL coupling mechanism not molecularly resolved here
  6. 2014 Medium

    Linking the metabolic phenotype to organelle biology, Ankrd26 loss was shown to cause primary cilia defects in appetite-controlling hypothalamic neurons, framing the obesity as ciliopathy-like.

    Evidence Ankrd26-/- mice with immunofluorescence of primary cilia in arcuate nucleus

    PMID:24633808

    Open questions at the time
    • Causal chain from cilia defect to hyperphagia not established
    • ANKRD26 role at neuronal cilia molecularly undefined
  7. 2017 Medium

    Generalizing the gain-of-function model, N-terminal truncating mutations were shown to yield stable isoforms that strongly activate MAPK/ERK and associate with overexpression, connecting ANKRD26 to leukemia predisposition.

    Evidence Cell transfection, western blotting of truncated isoforms, ERK activation assays, patient samples

    PMID:28100250

    Open questions at the time
    • Mechanism by which truncation activates ERK undefined
    • single lab
  8. 2017 Medium

    Showing ANKRD26 is also epigenetically regulated, promoter CpG hypermethylation in obese adipose tissue was shown to silence ANKRD26 and enhance pro-inflammatory adipocyte secretion.

    Evidence Bisulfite sequencing and ChIP for p300/DNMT/H4ac/Pol II, high-fat diet mice, 3T3-L1 functional assays

    PMID:28266632

    Open questions at the time
    • Link between silencing and inflammation mechanistically indirect
    • single lab
  9. 2020 High

    Revealing a distinct cell-cycle function, ANKRD26 was identified as a centriolar distal-appendage protein that recruits PIDD1 to activate the PIDDosome after centrosome amplification, limiting proliferation.

    Evidence Genome-wide screen, Co-IP, super-resolution microscopy, loss-of-function and PIDDosome/Caspase-2 activation assays in two independent papers

    PMID:33350486 PMID:33350495

    Open questions at the time
    • Structural basis of ANKRD26-PIDD1 binding undefined
    • how centrosome amplification triggers recruitment unresolved
  10. 2020 High

    Defining a conserved ciliary role, ANKRD26 and TALPID3 were shown to form a complex recruiting FBF1 to ciliary transition fibers across C. elegans and mammalian cells.

    Evidence Forward genetic screen in C. elegans, Co-IP, fluorescence microscopy, RNAi co-depletion in mammalian cells

    PMID:32366837

    Open questions at the time
    • Functional consequence for ciliary signaling not fully resolved
    • relationship to distal-appendage PIDD1 function unclear
  11. 2023 High

    Identifying the direct effector mechanism in hematopoiesis, ANKRD26 was shown to bind MPL, EPOR, and G-CSFR and block their internalization, so excess ANKRD26 causes cytokine hypersensitivity.

    Evidence Cell line, primary, and iPSC differentiation models, Co-IP, receptor internalization and proliferation/differentiation assays

    PMID:36794499

    Open questions at the time
    • Structural detail of receptor binding undefined
    • how ANKRD26 mechanically prevents internalization unresolved
  12. 2024 High

    Resolving the molecular basis of ANKRD26 action, it was shown to bind and bend the plasma membrane via an N-terminal amphipathic structure and cluster upon retinoic acid, with AML-truncating mutants losing this activity and differentiation function.

    Evidence Live-cell imaging, membrane fractionation, amphipathic-helix mutagenesis, gain- and loss-of-function/rescue differentiation assays

    PMID:38493476

    Open questions at the time
    • Link between membrane shaping and downstream ERK signaling not directly established
    • single lab
  13. 2024 Medium

    Broadening the pathogenic network, ANKRD26 was shown to retain ETV6 in the cytoplasm via GPS2-mediated bridging, deregulating ETV6 transcriptional repression and uniting related thrombocytopenias on a common axis.

    Evidence Co-IP, subcellular localization, transcriptional reporter and overexpression assays

    PMID:39791724

    Open questions at the time
    • Single lab
    • in vivo relevance to patient thrombocytopenia not shown
  14. 2024 Medium

    Confirming the FLI1 silencing element at single-nucleotide resolution, a c.-107C>T variant disrupting FLI1 binding was shown to sustain ANKRD26 expression and impair megakaryocyte maturation.

    Evidence Reporter assay, qPCR in differentiated PBMCs, proplatelet formation assays from patient cells

    PMID:38757516

    Open questions at the time
    • Single lab
    • limited patient cohort
  15. 2021 Medium

    Demonstrating that ectopic expression alone is sufficient for disease, a WAC-ANKRD26 fusion driven by the WAC promoter was shown to phenocopy THC2.

    Evidence Long-read whole-genome sequencing and functional fusion-transcript studies in patient cells

    PMID:33857290

    Open questions at the time
    • Single case/family
    • signaling consequences of fusion not detailed
  16. 2026 Medium

    Identifying an alternative apoptotic pathway in megakaryopoiesis, elevated ANKRD26 was shown to drive polyploid megakaryocyte apoptosis via JUNB-mediated CDKN1A activation independent of the p53-PIDDosome axis, with centrosomal localization in megakaryocytes.

    Evidence Single-cell transcriptomics of THC2 patient bone marrow, confocal imaging, ex vivo functional profiling

    PMID:41538704

    Open questions at the time
    • Mechanism connecting ANKRD26 to JUNB undefined
    • single lab
    • relationship to receptor-signaling model unresolved
  17. 2026 Medium

    Extending the membrane-anchoring principle to oncogenic fusions, ANKRD26-RET was shown to use ANKRD26 membrane-association and coiled-coil self-association to drive constitutive RET phosphorylation and proliferation.

    Evidence Domain-mutant transfection, phospho-RET western blotting, proliferation/colony assays, RET inhibitor treatment

    PMID:42127640

    Open questions at the time
    • Single lab
    • in vivo tumorigenicity not assessed
    • partial inhibitor efficacy unexplained

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ANKRD26's membrane-shaping, receptor-retention, centriolar/PIDDosome, and ERK-suppressing activities are mechanistically unified into a single biochemical function remains unresolved.
  • No structural model of full-length ANKRD26
  • no direct biochemical link between membrane scaffolding and ERK output
  • integration of cilia/centrosome and signaling roles unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0005198 structural molecule activity 2 GO:0098772 molecular function regulator activity 2 GO:0008289 lipid binding 1
Localization
GO:0005815 microtubule organizing center 3 GO:0005634 nucleus 2 GO:0005886 plasma membrane 2 GO:0005929 cilium 2
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 3 R-HSA-5357801 Programmed Cell Death 3 R-HSA-1266738 Developmental Biology 2 R-HSA-1640170 Cell Cycle 2
Partners
EPORETV6G-CSFRGPS2HMMRMPLPIDD1TRIO
Complex memberships
PIDDosomecentriolar distal appendage

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2014 THC2-associated mutations in the 5' UTR of ANKRD26 disrupt binding of transcription factors RUNX1 and FLI1, which normally silence ANKRD26 during late megakaryopoiesis. Persistent ANKRD26 expression increases signaling via the thrombopoietin/MPL pathway and impairs proplatelet formation; ERK inhibition completely rescues the proplatelet formation defect in vitro. Primary megakaryocytes from THC2 patients and healthy subjects; ChIP/binding assays for RUNX1 and FLI1; functional proplatelet formation assays; pharmacological ERK inhibition The Journal of clinical investigation High 24430186
2020 ANKRD26 is a centriolar distal appendage protein that interacts with and recruits the PIDDosome component PIDD1 to centriole distal appendages. This interaction is required for PIDDosome activation following centrosome amplification in non-transformed cells, limiting cell proliferation. A recurrent tumor-associated ANKRD26 mutation disrupts PIDD1 localization and PIDDosome activation. Genome-wide screen; Co-IP; super-resolution and confocal microscopy; genetic loss-of-function; quantification of PIDDosome activation after centrosome amplification The EMBO journal High 33350486 33350495
2020 PIDD1 is recruited to mature centrosomes by the centriolar distal appendage protein ANKRD26. PIDDosome-dependent Caspase-2 activation requires both PIDD1 centrosomal localization (mediated by ANKRD26) and PIDD1 autoproteolysis. Following cytokinesis failure, supernumerary centrosome clustering appears necessary for PIDDosome activation. Immunofluorescence localization; ANKRD26 depletion/rescue; Caspase-2 activation assays; cytokinesis failure models The EMBO journal High 33350486
2020 In C. elegans, ANKR-26 (ANKRD26 homolog) and TALP-3 (TALPID3 homolog) form a complex with the cilia gating component DYF-19 (FBF1 homolog) at transition fibers; co-depletion of TALP-3 and ANKR-26 specifically impairs FBF1/DYF-19 recruitment to transition fibers. In mammalian cells, TALPID3 and ANKRD26 play a conserved role in recruiting FBF1 to transition fibers. Forward genetic screen in C. elegans; co-immunoprecipitation; fluorescence microscopy; RNAi co-depletion in mammalian cells Nature communications High 32366837
2007 Partial inactivation of Ankrd26 in mice causes extreme obesity, insulin resistance, increased body size, and hyperphagia without reduction in energy expenditure. The ANKRD26 protein is expressed in the arcuate and ventromedial hypothalamic nuclei, ependyma, and circumventricular organs. In enlarged hearts of mutant mice, phospho-Akt and mTOR levels are elevated. Mutant mouse model (partial gene inactivation); metabolic phenotyping; immunohistochemistry; western blotting for phospho-Akt and mTOR Proceedings of the National Academy of Sciences of the United States of America Medium 18162531
2011 Ankrd26 knockout MEFs show higher spontaneous and induced adipogenesis than wild-type MEFs. ERK is constitutively activated in Ankrd26-/- MEFs, and MEK inhibitors block ERK activation, decrease adipogenesis, and reduce expression of C/EBPδ, KLF15, PPARγ2, CD34, and Pref-1, indicating that ERK activation downstream of Ankrd26 loss drives adipocyte differentiation. Mouse embryonic fibroblasts from Ankrd26-/- mice; adipogenesis induction assays; lipid droplet staining; qPCR for adipogenic markers; MEK inhibitor treatment; western blotting for phospho-ERK The Journal of biological chemistry Medium 21669876
2012 ANKRD26 interacts with TRIO, GPS2, DIPA, and HMMR as identified by yeast two-hybrid and co-immunoprecipitation. Selective knockdown of each partner (Ankrd26, Trio, Gps2, Hmmr, or Dipa) increases adipogenesis in 3T3-L1 cells. Introducing the C-terminus of ANKRD26 into cells causes GPS2 and DIPA to translocate from the nucleus to the cytoplasm. Yeast two-hybrid; co-immunoprecipitation; siRNA knockdown; adipogenesis assays in 3T3-L1 cells; subcellular localization by microscopy PloS one Medium 22666460
2011 The luciferase reporter assay indicates that THC2-associated 5' UTR mutations in ANKRD26 enhance ANKRD26 expression, suggesting the pathomechanism involves overexpression rather than haploinsufficiency. Luciferase reporter assay with wild-type and mutant 5' UTR sequences American journal of human genetics Medium 21211618
2014 Ankrd26 knockout mice display defects in primary cilia in CNS regions controlling appetite and energy homeostasis (arcuate nucleus and related areas), identifying a ciliopathy-like mechanism underlying the hyperphagia phenotype. Ankrd26-/- mouse model; immunofluorescence microscopy of primary cilia in brain sections Brain structure & function Medium 24633808
2011 Partial inactivation of Ankrd26 in mice on a pair-feeding diet results in better glucose tolerance and enhanced phosphorylation of the insulin receptor specifically in white adipose tissue, demonstrating a direct role of ANKRD26 in regulating insulin responsiveness of adipose tissue independently of obesity. Ankrd26 mutant mice under pair-feeding dietary regimen; glucose tolerance tests; western blotting for phospho-insulin receptor Diabetologia Medium 21842266
2017 N-terminal truncating mutations of ANKRD26 (c.3G>A and c.105C>G) produce stable N-terminal truncated isoforms that strongly activate the MAPK/ERK signaling pathway. One such mutation is associated with strong ANKRD26 overexpression in vivo, consistent with the proposed AML predisposition mechanism. Cell transfection; western blotting for truncated isoforms; ERK pathway activation assays; patient sample analysis Journal of hematology & oncology Medium 28100250
2023 ANKRD26 is expressed during early erythroid, megakaryocyte, and granulocyte differentiation and is required for progenitor cell proliferation; its expression is progressively silenced as differentiation proceeds. ANKRD26 interacts with and modulates the activity of the type I cytokine receptors MPL, EPOR, and G-CSFR; higher than normal ANKRD26 levels prevent receptor internalization, leading to increased downstream signaling and cytokine hypersensitivity. In vitro differentiation models (cell lines, primary patient cells, patient-derived iPSCs); Co-IP for receptor interactions; receptor internalization assays; proliferation/differentiation assays with gain- and loss-of-function Haematologica High 36794499
2024 ANKRD26 is a plasma membrane-binding and -shaping protein that uses an N-terminal amphipathic structure for membrane binding and bending. In response to retinoic acid, ANKRD26 self-associates and forms clusters at the plasma membrane. An AML-associated N-terminal truncating ANKRD26 mutant lacks this amphipathic structure and loses membrane association and shaping abilities, rendering it inactive in retinoic acid/BDNF-induced neuroblastoma differentiation in both gain-of-function and loss-of-function/rescue studies. Live-cell imaging; membrane fractionation; mutagenesis of amphipathic helix; gain-of-function and loss-of-function/rescue differentiation assays; comparison of wild-type and AML-mutant ANKRD26 Cell reports High 38493476
2024 ANKRD26 interacts with ETV6 and retains it in the cytoplasm, phenocopying ETV6-RT-related mutants. GPS2 (a component of the NCoR complex) binds both ANKRD26 and ETV6 and mediates this interaction. ANKRD26 overexpression deregulates ETV6 transcriptional repression, suggesting a common ANKRD26-ETV6-GPS2 pathogenic axis across related thrombocytopenias. Co-immunoprecipitation; subcellular localization by microscopy; transcriptional reporter assays; overexpression studies in cell lines Cells Medium 39791724
2021 A large complex structural variant (paired-duplication inversion) produces a pathogenic gain-of-function WAC-ANKRD26 fusion transcript that phenocopies THC2, demonstrating that ectopic/sustained ANKRD26 expression driven by a WAC promoter is sufficient to cause the thrombocytopenia phenotype. Long-read whole-genome sequencing; functional studies of fusion transcript in patient cells The Journal of experimental medicine Medium 33857290
2017 CpG hypermethylation at specific sites (-436 and -431 bp) in the Ankrd26 promoter in visceral adipose tissue of diet-induced obese mice impairs p300 binding, causes histone H4 hypoacetylation, and reduces RNA Pol II occupancy at the TSS, thereby silencing Ankrd26 expression. Ankrd26 downregulation enhances secretion of pro-inflammatory mediators by adipocytes. Bisulfite sequencing; ChIP for p300, DNMT3a/3b, MBD2, histone H4 acetylation, RNA Pol II; 3T3-L1 adipocyte functional assays; high-fat diet mouse model Scientific reports Medium 28266632
2024 The FLI1 binding site within the 5' UTR of ANKRD26 (at position c.-107) is required for ANKRD26 silencing during megakaryocyte differentiation. A c.-107C>T variant predicted to disrupt FLI1 binding causes sustained ANKRD26 expression, impaired megakaryocyte maturation, and impaired proplatelet formation in patient-derived PBMCs; a reporter assay confirms increased ANKRD26 promoter activity with this variant. Sequencing; luciferase reporter assay; qPCR for ANKRD26 expression in differentiated PBMCs; proplatelet formation assays Clinical genetics Medium 38757516
2026 In the ANKRD26-RET papillary thyroid carcinoma fusion, ANKRD26 provides plasma membrane anchoring (via its N-terminal membrane-association domain) and self-association (via its coiled-coil domain), which together with RET kinase domain activity lead to constitutive RET phosphorylation (Y905, Y981, Y1015, Y1062), strongly increased cell proliferation, and colony formation. These effects are suppressible by RET inhibitors agerafenib and pralsetinib, though with partial efficacy on proliferation. Cell transfection with ANKRD26-RET construct and domain mutants; phosphorylation analysis by western blot; cell proliferation and colony formation assays; pharmacological inhibitor treatment Biomedicine & pharmacotherapy Medium 42127640
2026 Single-cell transcriptomics of THC2 patient bone marrow revealed that elevated ANKRD26 expression induces apoptosis in polyploid megakaryocytes via JUNB-mediated transcriptional activation of CDKN1A (p21), independently of the canonical p53-PIDDosome axis. Confocal imaging localized ANKRD26 to the centrosome in megakaryocytes, implicating it in mitotic regulation during maturation. Single-cell transcriptomics of primary bone marrow from 4 THC2 patients; confocal imaging; ex vivo functional profiling; genetic/transcriptional pathway analysis Blood Medium 41538704
2024 PIDDosome activation requires ANKRD26 targeting of PIDD1 to mother centrioles in cardiomyocytes during postnatal heart development. In this context, PIDDosome-imposed ploidy restriction is p53-independent but requires p21/Cdkn1a, as demonstrated by nuclear RNA sequencing and genetic deletion experiments in mice. Mouse genetic KO of PIDDosome components; DNA content analysis; nuclear RNA sequencing; genetic deletion of p21 bioRxivpreprint Medium

Source papers

Stage 0 corpus · 48 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 227 21467542
2011 Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. American journal of human genetics 178 21211618
2014 Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. The Journal of clinical investigation 143 24430186
2020 ANKRD26 recruits PIDD1 to centriolar distal appendages to activate the PIDDosome following centrosome amplification. The EMBO journal 63 33350495
2020 Centriolar distal appendages activate the centrosome-PIDDosome-p53 signalling axis via ANKRD26. The EMBO journal 62 33350486
2007 A model for obesity and gigantism due to disruption of the Ankrd26 gene. Proceedings of the National Academy of Sciences of the United States of America 61 18162531
2012 Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia. Thrombosis and haemostasis 50 23223974
2011 Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts. The Journal of biological chemistry 46 21669876
2017 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. Journal of hematology & oncology 37 28100250
2017 Specific CpG hyper-methylation leads to Ankrd26 gene down-regulation in white adipose tissue of a mouse model of diet-induced obesity. Scientific reports 37 28266632
2014 A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice. Brain structure & function 30 24633808
2012 ANKRD26 and its interacting partners TRIO, GPS2, HMMR and DIPA regulate adipogenesis in 3T3-L1 cells. PloS one 30 22666460
2017 Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases. Journal of thrombosis and haemostasis : JTH 28 28976612
2010 Tumor Suppressor RARRES1 Regulates DLG2, PP2A, VCP, EB1, and Ankrd26. Journal of Cancer 26 20842219
2022 Exosome‑derived lncRNA‑Ankrd26 promotes dental pulp restoration by regulating miR‑150‑TLR4 signaling. Molecular medicine reports 25 35244185
2022 Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases. Platelets 24 35587581
2021 Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. The Journal of experimental medicine 24 33857290
2020 TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating. Nature communications 23 32366837
2022 ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms. Current hematologic malignancy reports 19 35751752
2011 Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice. Diabetologia 19 21842266
2016 Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. Platelets 18 27123948
2019 Epigenetic silencing of the ANKRD26 gene correlates to the pro-inflammatory profile and increased cardio-metabolic risk factors in human obesity. Clinical epigenetics 16 31801613
2018 An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). Clinical case reports 16 30147876
2019 ANKRD26-RET - A novel gene fusion involving RET in papillary thyroid carcinoma. Cancer genetics 15 31425920
2017 Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation. Platelets 15 29185836
2023 ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis. Haematologica 11 36794499
2020 Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome. Journal of investigative medicine high impact case reports 9 32618208
2020 Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study. Platelets 6 32659145
2017 Idiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia. Mediterranean journal of hematology and infectious diseases 5 28698781
2023 Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26-related thrombocytopenia. Platelets 4 37852929
2025 Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia. International journal of molecular sciences 3 40806462
2024 Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26. Clinical genetics 3 38757516
2023 Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non-Langerhans cell histiocytosis: Case report and literature review. Journal of cutaneous pathology 3 36753059
2020 A novel RUNX1 mutation with ANKRD26 dysregulation is related to thrombocytopenia in a sporadic form of myelodysplastic syndrome. Aging clinical and experimental research 3 32944898
2020 Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene. Stem cell research 3 32979630
2019 Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant. Case reports in hematology 3 31281687
2016 ANKRD26 normocytic thrombocytopenia: a family report. Annales de biologie clinique 3 27108925
2024 Ankrd26 is a retinoic acid-responsive plasma membrane-binding and -shaping protein critical for proper cell differentiation. Cell reports 2 38493476
2023 A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications. Journal of clinical medicine 2 37176611
2026 Single-cell profiling of ANKRD26 thrombocytopenia reveals progenitor expansion and polyploid apoptosis via JUNB-p21. Blood 1 41538704
2025 Modeling ANKRD26 5'-UTR mutation-related thrombocytopenia. Disease models & mechanisms 1 40170493
2024 Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree. Platelets 1 39212265
2023 ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia. Cureus 1 37065357
2026 Generation of an induced pluripotent stem cell line CGOi001-A from a patient with hereditary thrombocytopenia and a germline ANKRD26 mutation. Stem cell research 0 41643484
2026 Cancer-linked ANKRD26-RET uses an unusual combination of pathomechanisms leading to strongly increased cell proliferation. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 0 42127640
2025 ANKRD26 Gene Mutation and Thrombocytopenia-Is the Risk of Malignancy Dependent on the Mutation Variant? Hematology reports 0 40863182
2025 Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia. British journal of haematology 0 40954090
2024 Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6. Cells 0 39791724

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