Affinage

ANKRD11

Ankyrin repeat domain-containing protein 11 · UniProt Q6UB99

Length
2663 aa
Mass
297.9 kDa
Annotated
2026-06-09
100 papers in source corpus 20 papers cited in narrative 20 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

ANKRD11 is a large nuclear chromatin regulator that controls developmental gene expression by coupling transcription factors to histone-modifying and chromatin-architecture machinery (PMID:25556659, PMID:31788936, PMID:39847329). It functions as a p53 coactivator, physically associating with p53 and the acetyltransferases P/CAF and hADA3 to enhance p53 acetylation, p53 occupancy of the CDKN1A promoter, and p21 expression (PMID:18840648); loss-of-function and dominant-negative pathogenic variants reduce CDKN1A promoter activity and p21 transcription (PMID:33354850, PMID:38515699). Through its HDAC-binding domain it associates with chromatin and HDAC3 to set histone acetylation levels at target genes during neural development (PMID:25556659), and it bridges HDAC3 with the minor spliceosomal protein 65K/RNPC3 to drive their co-occupancy and H3K9 deacetylation at shared loci (PMID:38837887). ANKRD11 also acts as a broad enhancer repressor, recruited by AIB1 to TEAD-bound sites to restrain YAP-activated transcription, and its loss globally elevates H3K27 acetylation at oncogenic enhancers (PMID:31788936, PMID:37511268). Independently, a short N-terminal peptide binds the cohesin complex and competes with CTCF, linking ANKRD11 to genome architecture, while at the Setd5 promoter it recruits WDR5 to deposit H3K4 methylation and sustain rRNA production and translation (PMID:39847329, PMID:40520101). Nuclear import depends on a bipartite NLS (residues 53–87) that binds Importin α1, and protein abundance is controlled by C-terminal proteasomal degradation signals (PMID:37290286, PMID:25413698). In vivo, loss of Ankrd11 in neural crest cells produces craniofacial, palatal, skeletal, and cardiac outflow-tract defects, and in cortical neurons it governs histone-acetylation-dependent dendrite growth and radial migration via the BDNF/TrkB pathway (PMID:33996804, PMID:38951500, PMID:29274743); pathogenic ANKRD11 variants cause KBG syndrome through reduced protein stability or impaired transcriptional repression (PMID:35833929, PMID:37290286).

Mechanistic history

Synthesis pass · year-by-year structured walk · 20 steps
  1. 2007 Medium

    Established Ankrd11 as a genetic regulator of skeletal and craniofacial development in vivo, before any molecular mechanism was known.

    Evidence ENU mutagenesis screen and positional cloning of the Yoda missense mouse with bone density and skull phenotypes

    PMID:17986521

    Open questions at the time
    • Molecular pathway downstream of bone regulation not defined
    • Homozygous lethality precluded analysis of full loss of function
  2. 2008 High

    Defined a first molecular function — that ANKRD11 coactivates p53-dependent transcription — by linking it to acetyltransferases and a defined transcriptional readout.

    Evidence Reciprocal Co-IP with p53/P/CAF/hADA3, ChIP at CDKN1A, shRNA knockdown, acetyl-p53 western blot

    PMID:18840648

    Open questions at the time
    • Direct enzymatic versus scaffolding contribution to acetylation not separated
    • Structural basis of p53/P/CAF binding unknown
  3. 2011 Medium

    Extended the p53 link to oncogenic mutant p53, showing ANKRD11 can restore native conformation and dissociate mutant p53–p63 complexes to suppress malignant phenotypes.

    Evidence Inducible expression, conformational antibody and Co-IP assays, invasion and centrosome/mitosis analysis

    PMID:21986947

    Open questions at the time
    • Mechanism of conformational restoration not biochemically resolved
    • Single-lab cellular study
  4. 2011 Medium

    Showed ANKRD11 is predominantly nuclear in neurons and redistributes into nuclear inclusions on depolarization, hinting at activity-dependent regulation relevant to neural plasticity.

    Evidence Direct imaging and depolarization in neurons

    PMID:21782149

    Open questions at the time
    • Functional significance of nuclear inclusions not established
    • Single method, single lab
  5. 2012 Medium

    Linked ANKRD11 silencing to cancer by showing its promoter is methylated in breast tumors and reactivated by demethylation.

    Evidence Epityper methylation mapping, luciferase promoter assay, demethylating-agent treatment

    PMID:22538187

    Open questions at the time
    • Causal role of silencing in tumorigenesis not tested
    • Downstream consequences of loss not addressed in this study
  6. 2014 High

    Identified the chromatin/HDAC3 axis as ANKRD11's developmental mechanism, with genetic epistasis showing histone acetylation control drives neural precursor proliferation.

    Evidence Chromatin association, HDAC3 co-localization, Yoda HDAC-binding-domain point mutant, rescue by HDAC3 or HAT inhibition

    PMID:25556659

    Open questions at the time
    • Direct target gene set incompletely defined
    • How ANKRD11 selects loci not resolved
  7. 2014 Medium

    Defined how ANKRD11 abundance is controlled, attributing pathogenic accumulation to disruption of C-terminal D-box degradation signals.

    Evidence Cell-cycle protein abundance analysis, in silico D-box identification, analysis of 11 pathogenic variants

    PMID:25413698

    Open questions at the time
    • No in vitro reconstitution of proteasomal degradation
    • Responsible E3 ligase not identified
  8. 2017 High

    Placed ANKRD11 in a neuronal epigenetic circuit, showing it maintains acetylated H3/p53 at the TrkB promoter to drive BDNF/TrkB-dependent migration and dendrite growth.

    Evidence In utero electroporation knockdown, ChIP for acetylation and MeCP2/DNMT1 occupancy, TrkB overexpression rescue

    PMID:29274743

    Open questions at the time
    • Direct versus indirect occupancy of the TrkB promoter not separated
    • Link to human neurodevelopmental phenotypes inferred from mouse
  9. 2019 High

    Revealed a repressive chromatin function: ANKRD11/ANCO1 is recruited by AIB1 to TEAD sites to repress YAP-activated genes and restrain aberrant growth.

    Evidence Sequential ChIP, ChIP-seq, knockdown, 3D growth assay in breast epithelial cells

    PMID:31788936

    Open questions at the time
    • Mechanism of repression at TEAD sites not defined
    • Relationship to HDAC3-based repression not integrated
  10. 2020 Medium

    Confirmed clinically that pathogenic ANKRD11 variants abolish its CDKN1A transcriptional activation, validating the p53/p21 readout as disease-relevant.

    Evidence p21-promoter luciferase and endogenous p21 RT-PCR with wild-type versus mutant re-expression

    PMID:33354850

    Open questions at the time
    • Only two variants tested
    • In vivo consequence of impaired p21 activation not shown
  11. 2021 High

    Demonstrated a cell-autonomous requirement for Ankrd11 in neural crest for craniofacial bone and palate formation, with reduced precursor proliferation.

    Evidence Neural crest-specific conditional knockout, micro-CT, histology, BrdU/EdU proliferation assays

    PMID:33996804

    Open questions at the time
    • Molecular targets mediating the proliferation defect not identified
    • Chromatin mechanism not directly tested in this model
  12. 2022 Medium

    Resolved the genotype–mechanism relationship for KBG syndrome, showing missense variants act by either reduced stability or impaired repression and cluster in C-terminal repression domain 2.

    Evidence Cell-based stability and transcriptional-repression assays for 10 variants, variant clustering analysis

    PMID:35833929

    Open questions at the time
    • Two mechanisms not linked to distinct clinical outcomes
    • Single-lab functional assays
  13. 2023 Medium

    Mapped the nuclear import determinant, identifying a bipartite NLS that binds Importin α1 and is required for endogenous nuclear localization.

    Evidence Site-directed mutagenesis, GFP nuclear-import assay, Importin α1 binding, immunofluorescence in HeLa

    PMID:37290286

    Open questions at the time
    • Regulation of import not addressed
    • Single-lab study
  14. 2023 Medium

    Connected ANKRD11–HDAC3 activation to therapy resistance, showing a SERPINA3–ANKRD11–HDAC3 axis drives aromatase inhibitor resistance.

    Evidence Co-IP, HDAC3 activity assay, knockdown/overexpression, drug resistance assays

    PMID:37414914

    Open questions at the time
    • How ANKRD11 binding stimulates HDAC3 activity not defined
    • Single-lab cancer model
  15. 2023 Medium

    Defined ANKRD11/ANCO1 as a broad enhancer repressor, with loss elevating H3K27Ac at oncogenic enhancers enriched for AP-1, TEAD, STAT3 and NFκB motifs.

    Evidence H3K27Ac ChIP-seq in ANCO1-depleted TNBC cells, 3D invasion, xenograft

    PMID:37511268

    Open questions at the time
    • Direct recruitment mechanism to each enhancer class unresolved
    • Single-lab study
  16. 2024 High

    Established ANKRD11 as a conserved bridging factor coupling HDAC3 to the minor spliceosomal protein 65K/RNPC3 for chromatin co-occupancy and H3K9 deacetylation.

    Evidence Affinity purification in Drosophila, CRISPR deletions, Co-IP and CUT&Tag in human cells, domain mapping

    PMID:38837887

    Open questions at the time
    • Functional consequence of linking splicing factor to chromatin deacetylation unclear
    • Target gene network incompletely defined
  17. 2024 Medium

    Showed a truncating frameshift variant escapes NMD, over-accumulates as a nuclear-restricted protein, and dominant-negatively impairs p21 activation.

    Evidence NMD escape assay, localization, p21 luciferase, RT-PCR, western blot

    PMID:38515699

    Open questions at the time
    • Single variant studied
    • Dominant-negative mechanism inferred, not structurally shown
  18. 2024 High

    Extended the neural crest requirement to the heart, showing Ankrd11 controls cardiac outflow tract septation through transcription/chromatin and mTOR/BMP/TGF-β programs.

    Evidence Neural crest conditional knockout, echocardiography, histology, cardiac neural crest transcriptomics

    PMID:38951500

    Open questions at the time
    • Direct ANKRD11 targets in cardiac neural crest not pinpointed
    • Connection to specific chromatin complexes not tested in this model
  19. 2025 High

    Provided structural and genetic proof that ANKRD11 binds cohesin via an N-terminal peptide and competes with CTCF, with a single Y347A mutation perturbing gene expression and causing developmental anomalies.

    Evidence Crystal structure, biochemical binding/competition, Y347A knock-in mouse, mESC expression analysis

    PMID:39847329

    Open questions at the time
    • Genome-wide map of ANKRD11-dependent cohesin/CTCF sites not reported
    • Relationship between cohesin binding and HDAC3/repression functions not integrated
  20. 2025 Medium

    Identified a ribosome-biogenesis function in which ANKRD11 recruits WDR5 to the Setd5 promoter to drive H3K4 methylation, SETD5 expression, rRNA production and translation.

    Evidence ChIP for H3K4me at Setd5, ANKRD11–WDR5 Co-IP, rRNA quantification, polysome profiling, rescue

    PMID:40520101

    Open questions at the time
    • Direct versus scaffolded WDR5 recruitment not resolved
    • Tissue specificity of this axis not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ANKRD11's distinct activities — p53 coactivation, HDAC3/65K-mediated deacetylation, WDR5/H3K4 activation, ANCO1 enhancer repression, and cohesin/CTCF competition — are coordinated at the genome and which dominate in each developmental context remains unresolved.
  • No unified model integrating activating and repressive chromatin functions
  • No single study mapping all ANKRD11 partners on shared loci
  • Domain-level partitioning of the multiple interactions only partially mapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 4 GO:0003677 DNA binding 3 GO:0060090 molecular adaptor activity 3 GO:0042393 histone binding 2
Localization
GO:0005634 nucleus 3 GO:0005694 chromosome 3
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-4839726 Chromatin organization 4 R-HSA-74160 Gene expression (Transcription) 4 R-HSA-8953854 Metabolism of RNA 1
Partners
HDAC3KPNANCOA3PCAFRNPC3TADA3TP53WDR5
Complex memberships
ANKRD11–HDAC3–65K/RNPC3 complexcohesin complex

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 ANKRD11 localizes mainly to the nuclei of neurons and accumulates in discrete nuclear inclusions when neurons are depolarized, suggesting activity-dependent nuclear redistribution linked to neural plasticity. Subcellular localization by direct imaging in neurons; depolarization experiment American journal of human genetics Medium 21782149
2008 ANKRD11 is a p53 coactivator: it physically interacts with p53 and with p53 acetyltransferases P/CAF and hADA3, enhances p53 acetylation, increases p53 DNA-binding to the CDKN1A promoter, and elevates CDKN1A (p21) expression; shRNA knockdown of ANKRD11 reduces p53-dependent CDKN1A activation. Co-immunoprecipitation, shRNA knockdown, luciferase/promoter reporter assay, chromatin immunoprecipitation, western blot for acetylated p53 Journal of cell science High 18840648
2011 ANKRD11 suppresses oncogenic properties of mutant p53 by restoring a native conformation to mutant p53 protein and causing dissociation of the mutant p53–p63 complex, thereby alleviating centrosome abnormalities, mitotic defects, multinucleation, and mesenchymal-like invasion driven by mutant p53. Inducible expression system, immunoprecipitation to detect p53–p63 complex dissociation, conformational antibody assay, invasion assay, mitosis/centrosome analysis Oncogene Medium 21986947
2014 Ankrd11 acts as a chromatin regulator controlling histone acetylation during neural development: it associates with chromatin and co-localizes with HDAC3; a point mutation in its HDAC-binding domain (Yoda mouse) alters histone acetylation and expression of Ankrd11 target genes; knockdown-mediated decrease in neural precursor proliferation is rescued by inhibiting histone acetyltransferase activity or by expressing HDAC3. Chromatin association assay, co-localization with HDAC3, ENU point mutant mouse (Yoda), genetic rescue by HDAC3 overexpression or HAT inhibitor, gene expression analysis in neural precursors Developmental cell High 25556659
2014 The ANKRD11 C-terminus is required for proteasome-mediated degradation of the protein; wild-type ANKRD11 abundance is tightly regulated during the cell cycle, and pathogenic mutations (all affecting C-terminal regions) cause aberrant accumulation of mutant protein. In silico analysis identifies D-box sequences at the C-terminus as degradation signals. Cell-cycle analysis of protein abundance, in silico D-box identification, analysis of 11 pathogenic variants in human cells and Yoda mouse Human genetics Medium 25413698
2017 ANKRD11 regulates pyramidal neuron radial migration and dendritic differentiation in the developing cerebral cortex via epigenetic modification: knockdown suppresses acetylation of p53 and Histone H3, reduces TrkB/BDNF pathway mRNA, and causes the TrkB promoter to be occupied by MeCP2/DNMT1 instead of acetylated H3 and p53; overexpression of TrkB rescues abnormal dendrite growth. In utero electroporation knockdown, immunofluorescence, ChIP for histone acetylation and promoter occupancy, RT-PCR, TrkB overexpression rescue Neurobiology of disease High 29274743
2007 A missense mutation in a highly conserved region of Ankrd11 (Yoda mouse) causes reduced bone mineral density and craniofacial abnormalities, identifying Ankrd11 as a novel genetic regulator of bone homeostasis; homozygosity is embryonic lethal. ENU mutagenesis screen, positional cloning, heterozygous and homozygous phenotype analysis (bone mineral density, skull morphology) Physiological genomics Medium 17986521
2019 ANKRD11/ANCO1 mediates AIB1-YAP-dependent transcriptional repression at the 1q21.3 locus in breast epithelial cells: sequential ChIP and ChIP-seq show that ANCO1 is recruited by AIB1 at TEAD-bound genomic sites and represses a subset of YAP-activated genes; loss of ANCO1 reverts this repression, increases cell size, and enhances YAP-driven aberrant 3D growth. Sequential ChIP, ChIP-seq, gene expression analysis, 3D growth assay, ANCO1 knockdown EMBO reports High 31788936
2021 Conditional deletion of Ankrd11 in neural crest cells causes cleft palate, midfacial hypoplasia, retrognathia, and impaired intramembranous ossification, with reduced proliferation of palatal shelf cells and failure of calvarial ossification centers to expand/fuse, establishing Ankrd11 as a critical regulator of craniofacial bone and palate development. Neural crest-specific conditional knockout mouse (Ankrd11nchet and Ankrd11ncko), 3D micro-CT imaging, histology, BrdU/EdU proliferation assay Frontiers in cell and developmental biology High 33996804
2023 ANKRD11 interacts with HDAC3, and this interaction promotes HDAC3 activity; in a breast cancer model, downregulation of SERPINA3 leads to upregulation of ANKRD11, which binds and activates HDAC3 to confer aromatase inhibitor resistance; HDAC3 inhibition reverses this resistance. Co-immunoprecipitation, HDAC3 activity assay, gene knockdown/overexpression, drug resistance assays Communications biology Medium 37414914
2023 ANKRD11 loss globally increases H3K27Ac at breast-cancer-specific enhancers enriched for AP-1, TEAD, STAT3, and NFκB motifs, activating genes in PI3K-AKT, EMT, and senescence pathways; ChIP-seq in ANCO1-depleted early-stage TNBC cells identifies ANCO1 as a broad chromatin repressor. ChIP-seq for H3K27Ac, shRNA knockdown of ANCO1, 3D invasion assay, xenograft model International journal of molecular sciences Medium 37511268
2022 Pathogenic ANKRD11 missense variants cause loss-of-function via two independent mechanisms: reduced protein stability (proteolytic degradation) or decreased transcriptional repression activity; missense variants significantly cluster in repression domain 2 at the ANKRD11 C-terminus. Cell-based protein stability assays, transcriptional activity reporter assays, proteasome inhibition experiments, clustering analysis of variant locations Genetics in medicine Medium 35833929
2024 The minor spliceosomal protein 65K/RNPC3 interacts with ANKRD11, which acts as a bridging factor facilitating co-occupancy of HDAC3 and 65K on chromatin; ANKRD11 knockdown simultaneously reduces HDAC3 and 65K chromatin binding and decreases H3K9 deacetylation at their common target loci, altering gene expression; the interaction is conserved in both Drosophila and human cells, and the middle uncharacterized domain of HsANKRD11 mediates the Hs65K–HDAC3 association. Affinity purification in Drosophila lysates, CRISPR/Cas9 deletion mutants, CUT&Tag chromatin profiling, Co-IP in human cells, domain mapping, histone modification analysis Advanced science High 38837887
2025 ANKRD11 binds the cohesin complex via a short N-terminal peptide fragment with high affinity; the crystal structure of this peptide in complex with cohesin shows ANKRD11 competes with CTCF for cohesin binding; a single point mutation Y347A specifically disrupts ANKRD11–cohesin interaction, perturbs gene expression in mouse embryonic stem cells, and causes neural and craniofacial anomalies in Y347A knock-in mice. Crystal structure determination, biochemical binding assays, site-directed mutagenesis (Y347A), gene expression analysis in mESCs, knock-in mouse model Proceedings of the National Academy of Sciences of the United States of America High 39847329
2023 A bipartite nuclear localization signal (bNLS) between residues 53–87 of ANKRD11 mediates nuclear import via two binding sites for Importin α1; this bNLS is sufficient to drive nuclear import of GFP in HeLa cells and necessary for endogenous ANKRD11 nuclear localization; clinical variants within the bNLS provide a pathogenic mechanism for some KBG mutations. Site-directed mutagenesis, GFP-fusion nuclear import assay in HeLa cells, biochemical binding to Importin α1, immunofluorescence Biochemical and biophysical research communications Medium 37290286
2024 Conditional knockout of Ankrd11 in murine embryonic neural crest cells causes persistent truncus arteriosus, ventricular dilation, and impaired ventricular contractility due to aberrant cardiac neural crest cell organization and outflow tract septation failure; knockout impairs expression of transcription factors, chromatin remodelers, and mTOR/BMP/TGF-β signaling pathways in cardiac neural crest cells. Neural crest-specific conditional knockout mouse, echocardiography, histology, transcriptome analysis of cardiac neural crest cells Nature communications High 38951500
2025 ANKRD11 promotes rRNA expression and translation by upregulating SETD5 expression: ANKRD11 interacts with the Setd5 promoter and recruits WDR5 (a component of the H3K4 methyltransferase complex), increasing H3K4 methylation at the Setd5 promoter; ANKRD11 deficiency reduces H3K4me at Setd5, decreases SETD5 and rRNA levels, and impairs translation; overexpression of ANKRD11 or SETD5 rescues rRNA levels and translation. ChIP for H3K4 methylation at Setd5 promoter, Co-IP (ANKRD11–WDR5), rRNA quantification, polysome profiling/translation assay, overexpression rescue iScience Medium 40520101
2020 ANKRD11 loss-of-function variants reduce CDKN1A/p21 promoter-driven luciferase activity; re-introduction of wild-type ANKRD11 but not pathogenic variants (p.Lys1347del or p.Leu2143Val) restores p21 promoter activity and endogenous p21 mRNA levels, confirming the transcriptional activation function of ANKRD11 toward CDKN1A. p21-promoter luciferase reporter assay, RT-PCR for endogenous CDKN1A mRNA, re-expression of wild-type vs. mutant ANKRD11 American journal of medical genetics. Part A Medium 33354850
2024 A truncating frameshift ANKRD11 variant (p.Y761Qfs*20) escapes nonsense-mediated mRNA decay and produces a truncated protein that accumulates at higher levels than full-length ANKRD11 and localizes predominantly to the nucleus (unlike wild-type which distributes in both nucleus and cytoplasm); the truncated protein significantly reduces CDKN1A/p21-promoter luciferase activity and endogenous p21 mRNA, consistent with dominant-negative loss of transcriptional activation. NMD escape assay, immunofluorescence localization, p21-promoter luciferase reporter assay, RT-PCR, western blot for protein levels Heliyon Medium 38515699
2012 The ANKRD11 promoter is specifically methylated at three CpG sites in a 19 bp region in breast tumors compared to normal tissue; treatment of breast cancer cell lines with DNA demethylating agents upregulates ANKRD11 expression, linking promoter methylation to transcriptional silencing of ANKRD11. SEQUENOM Epityper methylation analysis, dual-luciferase reporter assay for promoter activity, demethylating agent treatment with expression measurement European journal of cancer Medium 22538187

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. American journal of human genetics 215 21782149
2014 Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Developmental cell 140 25556659
2002 Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen. The Journal of biological chemistry 114 12407114
1993 Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. American journal of human genetics 96 8503447
2014 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European journal of human genetics : EJHG 81 25424714
2016 Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. American journal of medical genetics. Part A 74 27605097
2017 ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. Neurobiology of disease 73 29274743
2008 Identification of ANKRD11 as a p53 coactivator. Journal of cell science 73 18840648
2017 Ammonium assimilation: An important accessory during aerobic denitrification of Pseudomonas stutzeri T13. Bioresource technology 71 28329725
2004 Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Human reproduction (Oxford, England) 71 15117905
2015 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Clinical genetics 69 25652421
2014 De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. American journal of medical genetics. Part A 66 24838796
2000 Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenatal diagnosis 64 10913961
2014 Phase II study of accelerated hypofractionated three-dimensional conformal radiotherapy for stage T1-3 N0 M0 non-small cell lung cancer: NCIC CTG BR.25. Journal of the National Cancer Institute 62 25074417
2011 Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11. Oncogene 62 21986947
2014 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Human genetics 53 25413698
2007 An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. Physiological genomics 53 17986521
2015 Activation of accumulated nitrite reduction by immobilized Pseudomonas stutzeri T13 during aerobic denitrification. Bioresource technology 48 25827250
1991 XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Human reproduction (Oxford, England) 46 1955545
2012 Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. American journal of medical genetics. Part A 45 22307766
2012 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 41 23184435
2002 Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? American journal of medical genetics 40 12407708
2020 Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. American journal of medical genetics. Part A 39 32476269
2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European journal of human genetics : EJHG 38 28422132
2014 First report of an Acanthamoeba genotype T13 isolate as etiological agent of a keratitis in humans. Parasitology research 37 24802868
2011 Metabolic and growth inhibitory effects of conjugated fatty acids in the cell line HT-29 with special regard to the conversion of t11,t13-CLA. Biochimica et biophysica acta 37 21889998
2006 ppGalNAc-T13: a new molecular marker of bone marrow involvement in neuroblastoma. Clinical chemistry 35 16873292
1988 Extension of the H-2 TLb molecular map. Isolation and characterization of T13, T14, and T15 from the C57BL/6 mouse. Immunogenetics 35 2831142
2005 A randomised controlled trial of pre-operative chemotherapy followed, if feasible, by resection versus radiotherapy in patients with inoperable stage T3, N1, M0 or T1-3, N2, M0 non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 30 15908042
2021 Biological stimulation with Fe(III) promotes the growth and aerobic denitrification of Pseudomonas stutzeri T13. The Science of the total environment 29 33647667
1979 Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11). Human genetics 29 422207
2012 pp-GalNAc-T13 induces high metastatic potential of murine Lewis lung cancer by generating trimeric Tn antigen. Biochemical and biophysical research communications 27 22306014
2021 The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development. Frontiers in cell and developmental biology 26 33996804
1980 Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother. Human genetics 26 7358383
2013 Trimeric Tn antigen on syndecan 1 produced by ppGalNAc-T13 enhances cancer metastasis via a complex formation with integrin α5β1 and matrix metalloproteinase 9. The Journal of biological chemistry 25 23814067
2014 A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. European journal of medical genetics 24 25464108
2012 Specific-site methylation of tumour suppressor ANKRD11 in breast cancer. European journal of cancer (Oxford, England : 1990) 24 22538187
2006 Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report. Human reproduction (Oxford, England) 23 16917122
2022 Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in medicine : official journal of the American College of Medical Genetics 22 35833929
2008 Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3. Journal of clinical pathology 22 18663058
2005 Induction chemotherapy with mitomycin, vindesine, and cisplatin for stage IIIA (T1-3, N2) unresectable non-small-cell lung cancer: final results of the Toronto phase II trial. Lung cancer (Amsterdam, Netherlands) 22 15603860
1991 Trisomy 16q23----qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Human genetics 22 1959917
2019 Loss of ANCO1 repression at AIB1/YAP targets drives breast cancer progression. EMBO reports 20 31788936
2015 Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. Molecular cytogenetics 19 25838844
2013 A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. American journal of medical genetics. Part A 19 23463723
2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. Molecular syndromology 17 23885231
2019 Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. BMC medical genetics 16 30642272
2016 Revisiting the human polypeptide GalNAc-T1 and T13 paralogs. Glycobiology 16 27913570
2017 Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. International journal of pediatric otorhinolaryngology 15 29224748
2023 ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human molecular genetics 14 36440975
2019 A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature. Molecular genetics & genomic medicine 14 31566922
1999 Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). Prenatal diagnosis 14 10451531
1978 Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11). Human genetics 14 730186
2014 A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. Annals of laboratory medicine 13 25187894
2013 Sperm nuclear architecture is locally modified in presence of a Robertsonian translocation t(13;17). PloS one 13 24205066
2021 Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. Genes 12 34440431
2020 Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review. Frontiers in genetics 12 33262785
1998 Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Annales de genetique 12 9599647
1997 Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2). American journal of medical genetics 12 9415677
1979 Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat. Human genetics 12 489007
2018 Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American journal of medical genetics. Part A 11 30088855
1979 Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages. Journal of medical genetics 11 469891
2023 SERPINA3-ANKRD11-HDAC3 pathway induced aromatase inhibitor resistance in breast cancer can be reversed by HDAC3 inhibition. Communications biology 10 37414914
2022 Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. International journal of molecular sciences 10 35682590
2021 Rhodotorula glutinis T13 as a potential source of microbial lipids for biodiesel generation. Journal of biotechnology 10 33711359
2021 Photon Versus Proton Beam Therapy for T1-3 Squamous Cell Carcinoma of the Thoracic Esophagus Without Lymph Node Metastasis. Frontiers in oncology 10 34235087
2020 Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway. American journal of medical genetics. Part A 10 33354850
2024 Minor Spliceosomal 65K/RNPC3 Interacts with ANKRD11 and Mediates HDAC3-Regulated Histone Deacetylation and Transcription. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 9 38837887
2019 A multiple breast cancer stem cell model to predict recurrence of T1-3, N0 breast cancer. BMC cancer 9 31340763
2013 Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation. Annals of pediatric endocrinology & metabolism 9 24904863
1989 Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example. Annales de genetique 9 2486064
2024 The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function. Nature communications 8 38951500
2024 Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search. Orphanet journal of rare diseases 8 39135054
2003 Higher degree of chromosome mosaicism in preimplantation embryos from carriers of robertsonian translocation t(13;14) in comparison with embryos from karyotypically normal IVF patients. Journal of assisted reproduction and genetics 7 12688594
2023 Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A 6 36628575
2023 The clinical significance of computed tomography texture features of renal cell carcinoma in predicting pathological T1-3 staging. Quantitative imaging in medicine and surgery 6 37064352
2023 Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer. International journal of molecular sciences 6 37511268
2020 [Analysis of ANKRD11 gene variant in a family affected with KBG syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 6 32820523
2012 Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15). Journal of assisted reproduction and genetics 6 22527900
2021 A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome. BMC medical genomics 5 33653342
2021 [Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 5 34247373
2017 The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. Clinical case reports 5 29375862
1981 Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members. Human genetics 5 7327568
2020 Transcriptome Analysis of High-NUE (T29) and Low-NUE (T13) Genotypes Identified Different Responsive Patterns Involved in Nitrogen Stress in Ramie (Boehmeria nivea (L.) Gaudich). Plants (Basel, Switzerland) 4 32575463
2025 ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome. Proceedings of the National Academy of Sciences of the United States of America 3 39847329
2024 Association between pathological characteristics and recurrence score by OncotypeDX in resected T1-3 and N0-1 breast cancer: a real-life experience of a North Hungarian regional center. Pathology oncology research : POR 3 38689824
2023 Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11. Biochemical and biophysical research communications 3 37290286
2021 Cryptic t(15;17) acute promyelocytic leukemia with a karyotype of add(11)(p15) and t(13,20)- A case report with a literature review. Bosnian journal of basic medical sciences 3 33052080
2016 Hypofractionated accelerated radiotherapy in T1-3 N0 cancer of the larynx: A prospective cohort study with historical controls. Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology 3 27698593
1996 Unusual chromosome aberration, t(13;14)(q32;q32.3), in a case of essential thrombocythemia with extreme thrombocytosis. Cancer genetics and cytogenetics 3 8908170
2025 ANKRD11 as a potential biomarker for brain metastasis from lung adenocarcinoma via cerebrospinal fluid liquid biopsy. Translational lung cancer research 2 40248734
2025 KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation. iScience 2 40520101
2024 Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome. Heliyon 2 38515699
2023 Urothelial bladder afferents selectively project to L6/S1 levels and are more peptidergic than those projecting to the T13/L1 levels in female rats. Heliyon 2 37534006
2020 T-13 and T-26, the novel taxanes with improved oral bioavailability in rats. Scientific reports 2 32081942
2016 A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2;q22.1). Journal of human reproductive sciences 2 27382241
1999 Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding. American journal of medical genetics 2 10494096
2025 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes 1 40004465
2025 A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review. Frontiers in pediatrics 1 40574944
2023 [Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 36584991

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