Affinage

ANKRD11

Ankyrin repeat domain-containing protein 11 · UniProt Q6UB99

Length
2663 aa
Mass
297.9 kDa
Annotated
2026-04-28
100 papers in source corpus 18 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ANKRD11 is a nuclear chromatin regulator that controls gene expression during development and tumor suppression through multiple mechanistic arms: recruitment of histone deacetylase HDAC3 to modulate histone acetylation at target loci, coactivation of p53 via association with acetyltransferases P/CAF and hADA3 to drive CDKN1A/p21 transcription, competitive binding to the cohesin complex that displaces CTCF, and bridging HDAC3 with the minor spliceosome component 65K/RNPC3 at shared chromatin targets (PMID:25556659, PMID:18840648, PMID:39847329, PMID:38837887). ANKRD11 additionally promotes SETD5 expression by recruiting WDR5 to the Setd5 promoter for H3K4 methylation, thereby sustaining rRNA levels and translation (PMID:40520101). Loss of ANKRD11 function in neural crest and cortical precursor cells impairs proliferation, neuronal migration, dendritic differentiation, craniofacial ossification, and cardiac outflow tract septation, and haploinsufficiency causes KBG syndrome (PMID:25556659, PMID:33996804, PMID:38951500, PMID:39847329). In breast epithelial cells, ANKRD11 acts as a transcriptional repressor at AIB1/YAP-TEAD target genes, and its loss activates oncogenic enhancers enriched for AP-1, TEAD, and NF-κB motifs, promoting invasion and aneuploidy (PMID:31788936, PMID:37511268).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2008 High

    Establishing that ANKRD11 directly participates in p53-mediated transcription resolved how a previously uncharacterized ankyrin-repeat protein could function as a transcriptional coactivator: it bridges p53 with acetyltransferases P/CAF and hADA3, enhances p53 acetylation and DNA binding at the CDKN1A promoter, and upregulates p21 expression.

    Evidence Co-IP, ChIP, shRNA knockdown, and reporter assays in MCF-7 and MDA-MB-468 breast cancer cells

    PMID:18840648

    Open questions at the time
    • Whether the ANKRD11–P/CAF–hADA3 interaction is direct or requires additional scaffold factors
    • Whether ANKRD11 coactivates p53 targets beyond CDKN1A genome-wide
    • No structural information on the ANKRD11–p53 interface
  2. 2011 High

    Two studies expanded ANKRD11's functional scope: its nuclear localization in neurons with activity-dependent redistribution into nuclear inclusions suggested a role in neural plasticity, while its ability to restore native conformation to mutant p53 and dissociate the mutant-p53–p63 complex established a gain-of-function suppressor activity relevant to cancer.

    Evidence Subcellular imaging in depolarized neurons (PMID:21782149); inducible expression, conformational antibody assays, co-IP, and invasion assays (PMID:21986947)

    PMID:21782149 PMID:21986947

    Open questions at the time
    • Mechanism by which depolarization drives ANKRD11 into nuclear inclusions
    • Whether conformational rescue of mutant p53 occurs in vivo
    • No identification of the ANKRD11 domain responsible for p53 conformational correction
  3. 2014 High

    Identification of ANKRD11 as a chromatin-associated HDAC3 partner that controls histone acetylation in neural precursors defined its core developmental mechanism: Ankrd11 loss increases histone acetylation, reduces precursor proliferation and neurogenesis, and these defects are rescued by HDAC3 overexpression or HAT inhibition, placing ANKRD11 upstream of histone acetylation balance during cortical development.

    Evidence Knockdown in murine/human cortical precursors, Yoda point-mutant mouse, chromatin association and HDAC3 co-localization assays, epistasis rescue (PMID:25556659); cell cycle protein-level analysis of pathogenic C-terminal truncation variants (PMID:25413698)

    PMID:25413698 PMID:25556659

    Open questions at the time
    • Identity of specific ANKRD11 target genes regulated through HDAC3
    • Whether the C-terminal D-box-mediated proteasomal degradation is required for normal cell-cycle-dependent function in vivo
    • No genome-wide map of ANKRD11 chromatin binding sites in neural precursors
  4. 2017 High

    Demonstrating that ANKRD11 controls pyramidal neuron migration and dendritic differentiation through p53/histone H3 acetylation at the TrkB promoter linked the chromatin-regulatory and p53-coactivation arms into one pathway operating during cortical development.

    Evidence In utero electroporation knockdown, ChIP for acetylated H3 and p53 at TrkB promoter, TrkB overexpression rescue

    PMID:29274743

    Open questions at the time
    • Whether the TrkB–BDNF axis fully accounts for ANKRD11-dependent dendritic phenotypes
    • Contribution of HDAC3 versus p53 arms at the TrkB locus not dissected
  5. 2019 High

    ChIP-seq in breast epithelial cells revealed a distinct repressor function: ANKRD11 (ANCO1) is recruited by AIB1 to YAP-TEAD target genes, where it represses transcription; its loss activates YAP-dependent programs driving aberrant 3D growth, establishing ANKRD11 as a context-dependent repressor beyond its coactivator role at p53 targets.

    Evidence ChIP-seq, sequential ChIP, shRNA knockdown, 3D culture assays in breast epithelial cells

    PMID:31788936

    Open questions at the time
    • Whether ANKRD11 repression at YAP-TEAD targets operates through HDAC3 or an independent corepressor mechanism
    • Relevance of this repressor axis in non-epithelial contexts
  6. 2021 High

    Conditional deletion of Ankrd11 in neural crest cells established its requirement for intramembranous ossification and palate morphogenesis, extending the gene's developmental roles from brain to craniofacial skeleton and directly modeling KBG syndrome craniofacial features.

    Evidence Neural crest-specific conditional KO mice, 3D imaging, histology, and proliferation assays

    PMID:33996804

    Open questions at the time
    • Downstream transcriptional targets of ANKRD11 in osteoprogenitors not identified
    • Whether the craniofacial phenotype depends on HDAC3 or cohesin interactions
  7. 2023 High

    Multiple 2023 studies deepened the chromatin and disease mechanism: ANKRD11 loss in triple-negative breast cancer globally elevated H3K27Ac at oncogenic enhancers (AP-1, TEAD, STAT3, NF-κB), ANKRD11 was shown to interact with and upregulate HDAC3 deacetylase activity, a bipartite NLS was mapped to residues 53–87 mediating Importin-α1-dependent nuclear import, and pathogenic missense variants were shown to reduce either protein stability or transcriptional repression activity.

    Evidence ChIP-seq/shRNA/xenograft (PMID:37511268); Co-IP and HDAC3 activity assays (PMID:37414914); mutagenesis and GFP-import assays (PMID:37290286); cell-based stability and reporter assays on 10 missense variants (PMID:35833929)

    PMID:35833929 PMID:37290286 PMID:37414914 PMID:37511268

    Open questions at the time
    • Whether ANKRD11-dependent HDAC3 activation is allosteric or recruitment-based
    • Structural basis of the repression domain 2 clustering of pathogenic variants
    • Whether bipartite NLS mutations account for clinical cases beyond those tested
  8. 2024 High

    Two 2024 studies revealed new functional partnerships: ANKRD11 bridges HDAC3 and the minor spliceosome protein 65K/RNPC3 at shared chromatin loci to couple histone deacetylation with minor-intron gene regulation, and neural crest-specific Ankrd11 knockout causes persistent truncus arteriosus and impaired ventricular function through disrupted mTOR/BMP/TGF-β signaling in cardiac neural crest cells.

    Evidence Affinity purification, CUT&Tag, CRISPR KO in Drosophila and human cells (PMID:38837887); conditional neural crest KO mouse with cardiac phenotyping and transcriptomics (PMID:38951500); truncated variant NMD-escape and dominant-negative activity (PMID:38515699)

    PMID:38515699 PMID:38837887 PMID:38951500

    Open questions at the time
    • Whether bridging of HDAC3–65K is required for minor intron splicing per se or only for transcriptional regulation of minor-intron-containing genes
    • Specific cardiac neural crest target genes directly bound by ANKRD11
    • Whether dominant-negative truncated ANKRD11 variants operate through the HDAC3 or cohesin arm
  9. 2025 High

    A crystal structure of an ANKRD11 N-terminal peptide bound to the cohesin complex demonstrated that ANKRD11 competes with CTCF for the same cohesin binding surface; a Y347A knock-in mouse disrupting this single interaction recapitulated neural and craniofacial KBG syndrome features, establishing cohesin binding as a major independent axis of ANKRD11 function. Separately, ANKRD11 was shown to recruit WDR5 to the Setd5 promoter, promoting H3K4 methylation and SETD5-dependent rRNA biogenesis and translation.

    Evidence Crystal structure, biochemical competition assays, Y347A knock-in mice, gene expression in mESCs (PMID:39847329); ChIP, Co-IP, rRNA quantification, translational assays, rescue experiments (PMID:40520101)

    PMID:39847329 PMID:40520101

    Open questions at the time
    • Whether cohesin and HDAC3 interactions are coordinated at the same loci or operate at distinct gene sets
    • Global contribution of the SETD5–rRNA axis to KBG syndrome phenotypes
    • No full-length ANKRD11 structure to reveal inter-domain organization

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include how ANKRD11's multiple chromatin-regulatory arms (HDAC3 recruitment, cohesin binding, p53 coactivation, WDR5-mediated H3K4 methylation, minor spliceosome bridging) are coordinated or segregated at individual genomic loci, and which arm(s) are primarily responsible for each tissue-specific developmental phenotype in KBG syndrome.
  • No integrative multi-omic dataset mapping all ANKRD11 interaction arms genome-wide in a single cell type
  • Contribution of each mechanistic arm to specific KBG syndrome features (neurological vs. craniofacial vs. cardiac) not dissected
  • No full-length structural model of ANKRD11

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 8 GO:0042393 histone binding 4 GO:0098772 molecular function regulator activity 3
Localization
GO:0005694 chromosome 4 GO:0005634 nucleus 3
Pathway
R-HSA-74160 Gene expression (Transcription) 6 R-HSA-1266738 Developmental Biology 5 R-HSA-4839726 Chromatin organization 5 R-HSA-5357801 Programmed Cell Death 3
Partners
CTCFHDAC3KAT2BNCOA3RNPC3TADA3TP53WDR5

Evidence

Reading pass · 18 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 a role in neural plasticity. Subcellular localization by direct imaging in neurons with depolarization stimulus American journal of human genetics Medium 21782149
2008 ANKRD11 is a p53-interacting protein that acts as a coactivator of p53 transcriptional activity; it associates with p53 acetyltransferases P/CAF and hADA3, enhances levels of acetylated p53, and increases p53 DNA-binding to the CDKN1A (p21) promoter, thereby upregulating p21 expression. Co-immunoprecipitation, shRNA knockdown, reporter assays, ChIP, exogenous expression in MCF-7 and MDA-MB-468 cells Journal of cell science High 18840648
2011 ANKRD11 suppresses the oncogenic gain-of-function properties of mutant p53 by restoring a native conformation to mutant p53 protein and causing dissociation of the mutant p53–p63 complex, thereby alleviating mutant p53-driven centrosome amplification, mitotic defects, multinucleation, and invasion. Inducible expression, co-immunoprecipitation, conformational antibody assays, invasion assays Oncogene High 21986947
2014 Ankrd11 functions as a chromatin regulator during neural development by associating with chromatin and colocalizing with HDAC3; it controls histone acetylation levels, and its loss causes decreased neural precursor proliferation, reduced neurogenesis, and aberrant neuronal positioning. The proliferation defect is rescued by inhibiting histone acetyltransferase activity or by expressing HDAC3. Knockdown in murine/human cortical neural precursors, Yoda point-mutant mouse (HDAC-binding domain mutation), chromatin association assay, co-localization with HDAC3, gene expression and histone acetylation analysis, epistasis rescue experiments 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 all examined pathogenic truncating mutations in the C-terminal region result in aberrant accumulation of the mutant protein. D-box sequences (proteasome degradation signals) are present in the C-terminus. Cell cycle analysis of protein abundance, in silico D-box identification, functional comparison of 11 pathogenic ANKRD11 variants Human genetics Medium 25413698
2017 ANKRD11 regulates pyramidal neuron radial migration and dendritic differentiation in developing mouse cortex; its knockdown suppresses acetylation of p53 and histone H3, reduces mRNA levels of TrkB, BDNF, and neurite growth-related genes, and the TrkB promoter in ANKRD11-deficient neurons shows reduced acetylated H3 and p53 occupancy with increased MeCP2 and DNMT1 binding. Overexpression of TrkB rescues abnormal dendrite growth. In utero electroporation knockdown, histone/p53 acetylation assays, ChIP, qRT-PCR, TrkB overexpression rescue Neurobiology of disease High 29274743
2019 ANKRD11 (ANCO1) acts as a transcriptional repressor at AIB1/YAP-TEAD target genes in breast epithelial cells; it is recruited to chromatin by AIB1 and its loss reverses AIB1-YAP-dependent gene repression, increases cell size, and enhances YAP-driven aberrant 3D growth. ChIP-seq, sequential ChIP, gene expression analysis, shRNA knockdown, 3D culture assays EMBO reports High 31788936
2022 Pathogenic ANKRD11 missense variants cause KBG syndrome either by reducing ANKRD11 protein stability (6 of 10 tested variants) or by causing loss of transcriptional repression activity (one variant also decreased proteasome degradation); variants significantly cluster in repression domain 2 at the C-terminus. Cell-based stability assays, transcriptional reporter assays, in silico analysis, functional characterization of 10 missense variants Genetics in medicine Medium 35833929
2023 ANKRD11 interacts with HDAC3 and upregulates its deacetylase activity; in the context of aromatase inhibitor resistance in breast cancer, ANKRD11 acts downstream of SERPINA3 to promote resistance through this HDAC3 interaction. Co-immunoprecipitation, HDAC3 activity assays, knockdown/overexpression experiments Communications biology Medium 37414914
2023 A bipartite nuclear localization signal (bNLS) between residues 53 and 87 of ANKRD11 mediates its nuclear import via two binding sites for Importin α1; this bNLS is necessary and sufficient for nuclear localization, and mutations within it provide a pathogenic mechanism for certain clinical ANKRD11 variants. Site-directed mutagenesis, biochemical binding assays, GFP-fusion nuclear import assays in HeLa cells, immunofluorescence Biochemical and biophysical research communications Medium 37290286
2024 The minor spliceosomal protein 65K/RNPC3 interacts with ANKRD11, and ANKRD11 acts as a bridging factor that facilitates co-binding of HDAC3 and 65K/RNPC3 to common chromatin loci. ANKRD11 knockdown simultaneously reduces HDAC3 and 65K chromatin binding and decreases H3K9 deacetylation at shared target genes, linking the minor spliceosome to histone deacetylation-mediated gene regulation. Affinity purification (Drosophila and human), CRISPR/Cas9 deletion mutants, CUT&Tag assays, knockdown experiments, histone modification analysis Advanced science High 38837887
2024 Conditional knockout of Ankrd11 in embryonic neural crest cells leads to persistent truncus arteriosus, ventricular dilation, and impaired ventricular contractility due to aberrant cardiac neural crest cell organization and outflow tract septation failure; Ankrd11 knockout impairs expression of transcription factors, chromatin remodelers, and mTOR, BMP, and TGF-β signaling pathways in cardiac neural crest cells. Conditional neural crest-specific knockout mouse, cardiac morphology analysis, transcriptome analysis of cardiac neural crest cells Nature communications High 38951500
2021 Ankrd11 is required for intramembranous ossification and palate development; conditional deletion of Ankrd11 in neural crest cells causes cleft palate, retrognathia, midfacial hypoplasia, reduced calvarial growth, failure of ossification center expansion/fusion, and reduced proliferation of palatal shelves. Ankrd11 expression is closely associated with developing bony structures in the craniofacial complex. Neural crest-specific conditional heterozygous and homozygous knockout mice, 3D imaging, histology, proliferation assays Frontiers in cell and developmental biology High 33996804
2025 ANKRD11 binds to the cohesin complex via a short N-terminal peptide fragment with high affinity; crystal structure of the ANKRD11 peptide–cohesin complex shows ANKRD11 competes with CTCF for cohesin binding. A single Y347A point mutation in ANKRD11 disrupts the ANKRD11–cohesin interaction, perturbs gene expression in mouse embryonic stem cells, and causes neural and craniofacial anomalies in knock-in mice mirroring KBG syndrome. Crystal structure determination, biochemical binding assays, site-directed mutagenesis (Y347A knock-in mice), gene expression analysis in mESCs Proceedings of the National Academy of Sciences of the United States of America High 39847329
2025 ANKRD11 promotes SETD5 expression by binding to the Setd5 promoter and recruiting WDR5, a component of the H3K4 methyltransferase complex; reduced H3K4 methylation at the Setd5 promoter in ANKRD11-deficient cells leads to decreased SETD5, reduced ribosomal RNA (rRNA) levels, and impaired translation. Overexpression of ANKRD11 or SETD5 rescues rRNA and translational defects. ChIP (promoter binding, H3K4 methylation), co-immunoprecipitation (ANKRD11-WDR5), rRNA quantification, translational activity assays, rescue by overexpression iScience High 40520101
2023 Loss of ANCO1 (ANKRD11) in early-stage triple-negative breast cancer cells leads to global increase in H3K27Ac signals enriched at AP-1, TEAD, STAT3, and NFκB motifs, activating breast-cancer-specific enhancers and oncogenic PI3K-AKT, EMT, and senescence pathways; ANCO1 depletion causes aneuploidy and enhanced 3D invasion. ChIP-seq (H3K27Ac), shRNA knockdown, 3D invasion assays, xenograft mouse model International journal of molecular sciences High 37511268
2020 ANKRD11 can enhance transactivation of the p21 (CDKN1A) promoter; two loss-of-function ANKRD11 variants (p.Lys1347del and p.Leu2143Val) failed to restore p21-promoter luciferase activity or endogenous p21 mRNA levels when re-introduced, demonstrating their functional impairment in this transcriptional activity. p21-promoter luciferase reporter assay, knockdown and rescue with wild-type vs. mutant ANKRD11 in cell lines American journal of medical genetics. Part A Medium 33354850
2024 A truncated ANKRD11 protein generated by a frameshift variant escapes nonsense-mediated decay, accumulates at higher levels than wild-type, localizes predominantly to the nucleus (whereas wild-type distributes between nucleus and cytoplasm), and significantly reduces CDKN1A/p21-promoter luciferase activity and endogenous p21 mRNA, suggesting a dominant-negative loss of transcriptional activation function. RT-PCR (NMD assessment), Western blot, immunofluorescence, p21-promoter luciferase reporter assay in HEK293 cells Heliyon Medium 38515699

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 212 21782149
2014 Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Developmental cell 138 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 113 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 80 25424714
2017 ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. Neurobiology of disease 73 29274743
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 73 27605097
2008 Identification of ANKRD11 as a p53 coactivator. Journal of cell science 73 18840648
2004 Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Human reproduction (Oxford, England) 71 15117905
2017 Ammonium assimilation: An important accessory during aerobic denitrification of Pseudomonas stutzeri T13. Bioresource technology 69 28329725
2015 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Clinical genetics 67 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
2011 Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11. Oncogene 62 21986947
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 61 25074417
2014 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Human genetics 52 25413698
2007 An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. Physiological genomics 52 17986521
2015 Activation of accumulated nitrite reduction by immobilized Pseudomonas stutzeri T13 during aerobic denitrification. Bioresource technology 47 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 44 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 39 12407708
2020 Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. American journal of medical genetics. Part A 38 32476269
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
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 36 28422132
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
2006 ppGalNAc-T13: a new molecular marker of bone marrow involvement in neuroblastoma. Clinical chemistry 34 16873292
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 26 22306014
1980 Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother. Human genetics 26 7358383
2021 The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development. Frontiers in cell and developmental biology 25 33996804
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 24 23814067
2012 Specific-site methylation of tumour suppressor ANKRD11 in breast cancer. European journal of cancer (Oxford, England : 1990) 24 22538187
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 23 25464108
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
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
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 21 35833929
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 18 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 18 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
2016 Revisiting the human polypeptide GalNAc-T1 and T13 paralogs. Glycobiology 16 27913570
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 15 30642272
2023 ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human molecular genetics 14 36440975
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 14 29224748
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
2019 A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature. Molecular genetics & genomic medicine 13 31566922
2013 Sperm nuclear architecture is locally modified in presence of a Robertsonian translocation t(13;17). PloS one 13 24205066
2014 A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. Annals of laboratory medicine 12 25187894
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
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 11 34440431
2020 Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review. Frontiers in genetics 11 33262785
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
2018 Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American journal of medical genetics. Part A 10 30088855
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 9 33354850
2019 A multiple breast cancer stem cell model to predict recurrence of T1-3, N0 breast cancer. BMC cancer 9 31340763
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
2013 Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation. Annals of pediatric endocrinology & metabolism 8 24904863
2024 Minor Spliceosomal 65K/RNPC3 Interacts with ANKRD11 and Mediates HDAC3-Regulated Histone Deacetylation and Transcription. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 7 38837887
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
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
2023 Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A 5 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 5 37064352
2023 Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer. International journal of molecular sciences 5 37511268
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