Affinage

MEF2C

Myocyte-specific enhancer factor 2C · UniProt Q06413

Length
473 aa
Mass
51.2 kDa
Annotated
2026-06-10
100 papers in source corpus 49 papers cited in narrative 49 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MEF2C is a MADS-box transcription factor that establishes and maintains cell-type-specific gene programs across muscle, cardiovascular, skeletal, hematopoietic/immune, and neuronal lineages, acting as a signal-integrating node downstream of multiple kinase cascades (PMID:9988769, PMID:18955699, PMID:29431698). Its activity is gated by direct phosphorylation: p38 MAPK phosphorylates three residues in the C-terminal transactivation domain to drive skeletal myogenesis and B-cell differentiation (PMID:9988769, PMID:18955699), CaMKII and ERK5 transduce calcium and growth-factor signals (PMID:16356629, PMID:31614133), and MARK/SIK kinases phosphorylate Ser222 and relieve HDAC4-mediated repression to sustain MEF2C output in leukemia (PMID:29431698, PMID:29526696). MEF2C is held in check by class IIa histone deacetylases (HDAC4, HDAC5, HDAC7) whose calcium-dependent nuclear export releases MEF2C, and by additional repressors including Ki-1/57 and the methyltransferase G9a (PMID:17336904, PMID:25271055, PMID:26900922, PMID:27667720, PMID:15862299); activated MEF2C recruits the coactivator p300 and acts as a pioneer factor to remodel chromatin at cardiac loci (PMID:37315521). Through partnerships with lineage transcription factors (Nkx2.5, EBF1, SOX18, Gli2) and direct binding to dozens of target promoters and enhancers, MEF2C controls ventricular and outflow-tract development (PMID:19035347, PMID:26811383, PMID:30521808), B-lymphopoiesis and myeloid/megakaryocyte fate (PMID:26900922, PMID:19211936, PMID:35194174), osteoclast differentiation via c-FOS/NFATc1 (PMID:33424022), and excitatory and inhibitory cortical circuit assembly (PMID:27779093, PMID:32418612, PMID:38848814). Its abundance is further tuned by APC/C-CDC20-mediated mitotic degradation requiring a D-box and phospho-degrons and by m6A/HuR-dependent mRNA stabilization (PMID:25789873, PMID:35573410, PMID:29678826). MEF2C haploinsufficiency, caused by missense mutations in its conserved DNA-binding domain that abolish DNA binding, produces a neurodevelopmental syndrome with autism/intellectual-disability-like phenotypes (PMID:32418612).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 1999 High

    Established that MEF2C is a downstream effector of a kinase pathway in differentiation, linking p38 MAPK signaling to muscle-specific transcription.

    Evidence p38 inhibition, MKK6/p38 overexpression and MEF2-site reporter assays in fibroblast and myoblast lines

    PMID:9988769

    Open questions at the time
    • Specific phosphoacceptor residues not mapped in this study
    • Did not address other tissues
  2. 2001 High

    Defined how Mef2c transcription is initiated and sustained, revealing a bHLH-initiated, MEF2-maintained positive autoregulatory loop in skeletal muscle.

    Evidence Transgenic lacZ reporter mice with enhancer mutagenesis and EMSA

    PMID:11714687

    Open questions at the time
    • Restricted to skeletal muscle enhancer
    • Other lineage-specific enhancers not examined
  3. 2008 High

    Mapped the p38 phosphorylation sites on MEF2C and demonstrated an essential cell-autonomous role in adaptive immunity, identifying cyclin D2 and Bcl-xL as proliferative/survival targets downstream of BCR/calcineurin signaling.

    Evidence Conditional B-cell Mef2c knockout mice with phospho-site mapping and BCR stimulation assays

    PMID:18438409 PMID:18955699

    Open questions at the time
    • Signal selectivity (BCR vs TLR/CD40) mechanism incompletely defined
    • Direct vs indirect target relationships not fully resolved
  4. 2009 High

    Established MEF2C as a node in heart and blood development by demonstrating cooperative protein partnerships (Nkx2.5) and upstream transcriptional control (Scl/Tal1, Foxj3).

    Evidence Co-IP, mammalian two-hybrid, double-knockout and conditional knockout mouse genetics, ChIP-chip

    PMID:19035347 PMID:19211936 PMID:19914232

    Open questions at the time
    • Direct genomic targets in each lineage only partially catalogued
    • Mechanism of partner cooperativity at promoters unresolved
  5. 2009 High

    Implicated MEF2C in leukemic cell behavior, showing it drives homing and invasiveness in MLL-rearranged leukemia rather than initial transformation.

    Evidence Retroviral overexpression and conditional knockout leukemia models with target expression profiling

    PMID:19584403

    Open questions at the time
    • Direct vs indirect regulation of MMP/chemokine targets not dissected
  6. 2007 High

    Quantified MEF2C activity as the balance point against HDAC4 corepression in skeletal development, using genetic epistasis to show stoichiometric opposition controls endochondral ossification.

    Evidence Multiple MEF2C transgenic alleles crossed with Hdac4 knockout, with histology

    PMID:17336904

    Open questions at the time
    • Chondrocyte target genes not enumerated
    • Signal controlling HDAC4 in this context not defined
  7. 2015 High

    Resolved post-translational control of MEF2C abundance, defining an APC/C-CDC20 degradation pathway dependent on a D-box and two phospho-degrons, and a Calmodulin-CaMKII-HDAC enhancer-activation cascade in neural crest.

    Evidence Degron mutagenesis with CDC20 co-IP; CRISPR enhancer deletion and pathway manipulation in mice

    PMID:25789873 PMID:26160899

    Open questions at the time
    • Physiological consequence of failed mitotic degradation not established in tissue
    • Kinase responsible for the APC/C phospho-degrons not identified
  8. 2015 High

    Demonstrated MEF2C controls SOST/sclerostin in osteocytes via a distal enhancer and acts to suppress endothelial inflammation through NF-κB inhibition and KLF2 induction, broadening its tissue repertoire.

    Evidence ChIP for MEF2C/HDAC5/H3K27ac, HDAC5 knockout mice, endothelial conditional knockout and leukocyte adhesion assays

    PMID:25271055 PMID:25474999

    Open questions at the time
    • Direct vs indirect KLF2 regulation not fully resolved
    • Cross-talk between osteocyte and inflammatory roles unexamined
  9. 2016 High

    Established MEF2C as a repressor in cortical excitatory neurons that sets the excitatory/inhibitory synaptic balance and as a genome-wide co-regulator with EBF1 in B-cell fate, while defining direct cardiac developmental targets (Tdgf1).

    Evidence Conditional knockouts with electrophysiology/behavior, ChIP-seq with EBF1, HDAC7 co-IP, and AHF-specific enhancer/ChIP analysis

    PMID:26811383 PMID:26900922 PMID:27779093 PMID:27989458

    Open questions at the time
    • How MEF2C switches between activator and repressor modes not mechanistically resolved
    • Direct neuronal target genes only partially defined
  10. 2018 High

    Identified phosphorylation-dependent MEF2C activity as a therapeutic dependency in AML, mapping a MARK/LKB1-SIK3-HDAC4 axis that sustains acetylation at MEF2C enhancers and is pharmacologically targetable.

    Evidence S222A knock-in mice, functional proteomics, domain-focused CRISPR screen, ChIP-seq and SIK inhibitor treatment of AML

    PMID:29431698 PMID:29526696

    Open questions at the time
    • Full set of phospho-dependent target enhancers not catalogued
    • Selectivity of SIK inhibition for leukemic vs normal MEF2C function unclear
  11. 2018 High

    Dissected the cell-lineage origin of MEF2C's cardiovascular requirement, showing the vascular phenotype is secondary to an early myocardial requirement.

    Evidence Nkx2-5Cre vs Etv2::Cre lineage-specific conditional knockouts with phenotyping

    PMID:30521808

    Open questions at the time
    • Myocardial target program driving lethality not fully defined
  12. 2020 High

    Linked MEF2C DNA-binding-domain mutations to a haploinsufficiency neurodevelopmental syndrome and separated its neuronal versus microglial contributions to distinct behavioral domains.

    Evidence Patient mutation functional analysis with cell-type-specific heterozygous knockouts, electrophysiology, behavior, and RNA-seq

    PMID:32418612

    Open questions at the time
    • Microglial MEF2C target genes underlying behavior not identified
    • Mechanism of non-cell-autonomous microglial effect unresolved
  13. 2020 High

    Extended MEF2C function to sleep homeostasis and activity-dependent neuronal gene expression, showing its phosphorylation status couples sleep loss to synaptic strength regulation.

    Evidence Postnatal forebrain conditional knockout with EEG/SWA, synaptic assays, phospho-MEF2C analysis; GluN3A knockdown with p38 pathway analysis

    PMID:32393578 PMID:32851972

    Open questions at the time
    • Kinase/phosphatase controlling sleep-regulated MEF2C phosphorylation not pinpointed
    • Direct sleep-regulated target genes only partly defined
  14. 2022 High

    Defined metabolic and inflammatory roles for MEF2C: licensing IL-2/IL-15-driven lipid metabolism in NK cells via SREBP, and driving M1 macrophage IL-12 transcription, with direct human haploinsufficiency relevance for NK function.

    Evidence CRISPR knockout screens in NK cells, patient-cell analysis, myeloid-specific knockout mice with infection/colitis models and ChIP/reporter assays

    PMID:35194174 PMID:38589619

    Open questions at the time
    • Direct vs indirect SREBP pathway regulation not fully resolved
    • Whether the same kinase inputs operate in immune cells untested
  15. 2023 High

    Revealed MEF2C as a pioneer/chromatin-remodeling factor that recruits p300 and cardiogenic factors during cardiomyocyte reprogramming, and connected microglial cGAS-IFN-I signaling to suppression of the neuronal MEF2C network in tauopathy.

    Evidence ChIP-seq for MEF2C/p300 with p300 inhibition in iCM reprogramming; Cgas conditional knockout and inhibition in tauopathy mice

    PMID:37095396 PMID:37315521

    Open questions at the time
    • How IFN-I lowers the MEF2C network molecularly not resolved
    • Pioneer-factor mechanism (nucleosome engagement) not directly demonstrated
  16. 2024 High

    Established a developmental-stage-specific requirement for MEF2C in parvalbumin interneuron maturation, refining the cellular basis of MEF2C-associated cortical dysfunction.

    Evidence Embryonic vs postnatal conditional Mef2c deletion in PV-INs with slice/in vivo electrophysiology and behavior

    PMID:38848814

    Open questions at the time
    • Target genes driving PV-IN maturation not identified
    • Why the requirement is temporally restricted unexplained

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how the same MEF2C molecule is mechanistically switched between transcriptional activation and repression, and how its many upstream kinase and cofactor inputs are integrated into cell-type-specific target selection.
  • No unified model of activator-to-repressor switching
  • Genome-wide cofactor occupancy not jointly mapped across cell types
  • Isoform-specific (e.g. γ+) target codes incompletely defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 7 GO:0140110 transcription regulator activity 7
Localization
GO:0005634 nucleus 3
Pathway
R-HSA-1266738 Developmental Biology 6 R-HSA-162582 Signal Transduction 5 R-HSA-168256 Immune System 5 R-HSA-74160 Gene expression (Transcription) 5
Partners
CDC20EBF1GLI2HDAC4HDAC5HDAC7NKX2-5SOX18

Evidence

Reading pass · 49 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 p38 MAPK directly activates MEF2C (a known substrate of p38) during skeletal muscle differentiation, and MEF2C protein and MEF2-binding sites are required for p38 to regulate muscle creatine kinase reporter gene transcription; inhibition of p38 with SB203580 blocked myoblast fusion and MEF2 family member expression. Pharmacological inhibition (SB203580), overexpression of MKK6/p38, reporter gene assays in 10T1/2 fibroblasts and L8 cells The Journal of biological chemistry High 9988769
2001 The Mef2c skeletal muscle-specific control region is a direct transcriptional target of myogenic bHLH proteins (e.g., MyoD) and MEF2 proteins themselves; mutagenesis showed the E-box (bHLH binding site) is essential for initiation of Mef2c transcription, while the adjacent MEF2 site is required for maintenance, establishing a positive autoregulatory loop. Transgenic reporter (lacZ) mice, in vivo mutagenesis of the Mef2c enhancer, EMSA Development (Cambridge, England) High 11714687
2001 MEF2C directly interacts with SOX18 in endothelial cell nuclei; MEF2C potentiates SOX18-mediated transcription and regulates the SOX18 activation domain, but fails to interact with or co-activate transcription with the disease-causing Ra or RaJ mutant SOX18 proteins. Co-immunoprecipitation, co-expression transcriptional activation assays in cell culture, in vivo co-localization in endothelial cell nuclei Biochemical and biophysical research communications Medium 11554755
2004 MEF2C activates the alphaT-catenin (CTNNA3) promoter in cardiac cells; co-transfection studies and in vivo transgenic reporter analysis established MEF2C as a regulator of tissue-specific CTNNA3 expression. Co-transfection reporter assays in P19 cells, promoter mutant analysis in HL-1 cardiac cells, transgenic mice with LacZ reporter Nucleic acids research Medium 15302915
2005 MEF2C DNA-binding activity is inhibited through direct interaction with the regulatory protein Ki-1/57; under pressure overload Ki-1/57 exits the nucleus, reducing this co-localization and de-repressing MEF2C. Yeast two-hybrid, GST pull-down (in vitro), co-immunoprecipitation (in vivo), EMSA, immunofluorescence co-localization in rat myocytes FEBS letters Medium 15862299
2005 ERK5 activates MEF2C in insulin-stimulated pre-adipocytes; ERK5 siRNA inhibited MEF2C activation, and dominant-negative FTase blocked ERK5 nuclear translocation and MEF2C activation, demonstrating an ERK5→MEF2C axis downstream of prenylation in adipogenesis. siRNA knockdown of ERK5, dominant-negative FTase overexpression, MEF2C activation assays in pre-adipocyte cells Molecular and cellular endocrinology Medium 16356629
2007 MEF2C controls chondrocyte hypertrophy and endochondral bone development; endochondral bone formation is exquisitely sensitive to the balance between MEF2C and the corepressor HDAC4, such that Hdac4 mutation rescues bone deficiency of Mef2c mutant mice, and a heterozygous Mef2c mutation diminishes ectopic ossification in Hdac4-null mice. Conditional/dominant-negative/superactivating MEF2C transgenic mice, genetic epistasis with Hdac4 knockout, histology, molecular marker analysis Developmental cell High 17336904
2007 MEF2C binds the MEF2 sites in the CARK (TNNI3K) promoter and is an essential positive regulator of CARK cardiac-specific transcription, as demonstrated by EMSA supershift and MEF2C antisense downregulation of CARK. Truncation/mutation analysis of CARK promoter, EMSA with supershift, co-transfection, MEF2C antisense in cardiac cells Journal of cellular and molecular medicine Medium 18021318
2008 p38 MAPK directly phosphorylates MEF2C via three residues in the C-terminal transactivation domain in B cells downstream of BCR stimulation; conditional Mef2c deletion in B cells resulted in severe defects in B-cell proliferation, reduced immune response, and defective germinal center formation. Conditional B-cell-specific Mef2c knockout mice, p38 phosphorylation mapping of MEF2C, in vitro and in vivo immune response assays Proceedings of the National Academy of Sciences of the United States of America High 18955699
2008 Calcineurin-regulated MEF2C is required for BCR-induced B-cell proliferation and survival; loss of Mef2c caused defects in proliferation and survival after BCR (but not TLR or CD40) stimulation, and MEF2C-dependent targets include cyclin D2 and Bcl-xL. Conditional Mef2c knockout in B cells, BCR stimulation proliferation/survival assays, target gene expression analysis Nature immunology High 18438409
2008 Nkx2.5 and MEF2C directly interact via co-immunoprecipitation and mammalian two-hybrid; genetic interaction studies show Nkx2.5−/−;Mef2c−/− double mutants lack identifiable ventricles due to defective ventricular cell differentiation, demonstrating cooperative requirement for ventricular formation. Co-immunoprecipitation, mammalian two-hybrid, double-knockout mouse genetics, histology and molecular marker analysis Developmental dynamics High 19035347
2009 Mef2c is a direct downstream target of Scl/Tal1 in megakaryocytic cells (confirmed by ChIP-microarray hybridization); Mef2c deficiency impairs megakaryopoiesis and platelet function (reduced counts, increased size, altered shape/granularity), and Mef2c is also required for B-lymphoid homeostasis. Conditional Mef2c knockout (VavCre), ChIP-chip analysis, platelet phenotyping, in vitro megakaryopoiesis assays Blood High 19211936
2009 MEF2C overexpression in cooperation with Irf8 deficiency induces myelomonocytic leukemia; conditional Mef2c deletion in MLL/ENL leukemia cells does not impair LSC establishment but compromises homing and invasiveness, with MEF2C-dependent targets including matrix metalloproteinases and chemokine ligands/receptors. Retroviral overexpression, conditional knockout mouse model, gene expression analysis of MEF2C targets Blood High 19584403
2009 Foxj3 transcriptionally activates Mef2c through a conserved forkhead binding site in the Mef2c skeletal muscle enhancer; Foxj3 mutant mice have fewer Type I slow-twitch myofibers, impaired muscle function, and decreased Mef2c expression. Foxj3 knockout mice, transcriptional reporter assays in C2C12 cells, EMSA/ChIP for Foxj3 binding at Mef2c enhancer Developmental biology Medium 19914232
2011 Gli2 and MEF2C directly interact (co-IP) and bind each other's regulatory elements (ChIP) in differentiating P19 cells, activating each other's expression and synergizing on cardiomyogenesis-related promoters containing Gli- and MEF2-binding elements. Co-immunoprecipitation, ChIP, dominant-negative mutant analysis, transcriptional reporter assays in P19 cells Nucleic acids research Medium 22199256
2012 Notch3 inhibits Mef2c activity most likely by increasing the p38 phosphatase Mkp1 (which inhibits the Mef2c-activating p38 MAP kinase); conversely, Mef2c induces miR-1 and miR-206, which directly downregulate Notch3, forming a mutual antagonism circuit during myoblast differentiation. Overexpression/knockdown in differentiating myoblasts, luciferase reporter assays, p38 pathway analysis The Journal of biological chemistry Medium 23055528
2012 Tbx1 is a negative modulator of Mef2c: Tbx1 occupies conserved regulatory regions of the Mef2c locus (suggesting direct transcriptional repression) and also interferes with the Gata4→Mef2c regulatory pathway; Mef2c is upregulated in the second heart field of Tbx1 null embryos and decreased in Tbx1 gain-of-function embryos. Microarray transcriptomics across Tbx1 allelic series, ChIP for Tbx1 at Mef2c locus, in vivo immunostaining Human molecular genetics Medium 22367967
2013 Mef2c binds two conserved MEF2 sites in the Crtl1 5' flanking region in vivo during cardiovascular development, and Mef2c expression is required for Crtl1 transcription in fetal mitral valve interstitial cells. ChIP, MEF2 binding site mutagenesis, loss-of-function in VICs PloS one Medium 23468913
2015 HDAC5 binds and inhibits MEF2C in osteocytes; ChIP mapped endogenous MEF2C binding to a distal SOST enhancer 45 kb downstream of the TSS; HDAC5 deficiency increases MEF2C chromatin association, H3K27ac, and SOST expression, while HDAC5 overexpression decreases SOST. MEF2C knockdown abolishes the HDAC5-shRNA-induced increase in sclerostin, confirming MEF2C is the key HDAC5 target for SOST regulation. HDAC5 shRNA and overexpression in osteocytic cells, HDAC5 knockout mice, ChIP for MEF2C/HDAC5/H3K27ac at SOST enhancer, co-IP, double knockdown rescue experiments Journal of bone and mineral research High 25271055
2015 MEF2C degradation during mitosis requires the Anaphase Promoting Complex/Cyclosome (APC/C); this mechanism requires a D-box (R-X-X-L) and two phospho-motifs (pSer98 and pSer110) on MEF2C, mediated through interaction with APC/C co-activator CDC20; both D-box and pSer110 are encoded by the ubiquitous alternate α1 exon. Cell cycle synchronization, proteasome inhibition, D-box and phospho-site mutagenesis, co-immunoprecipitation with CDC20, cell cycle progression assays Cell cycle High 25789873
2015 MEF2C suppresses endothelial cell inflammation by inhibiting NF-κB activation and inducing KLF2; MEF2C knockdown upregulated pro-inflammatory molecules and stimulated leukocyte adhesion, while MEF2C overexpression repressed TNF-α-induced NF-κB and inflammatory responses; endothelial-specific MEF2C ablation in mice increased LPS-induced leukocyte adhesion to the retinal vasculature. shRNA knockdown and adenovirus-mediated overexpression in endothelial cells, endothelial-specific conditional knockout mice, leukocyte adhesion assays Journal of cellular physiology High 25474999
2015 Endothelin signaling activates Mef2c expression in the neural crest through a conserved enhancer; CRISPR deletion of this neural crest Mef2c enhancer abolishes Endothelin induction; mechanistically, Endothelin de-represses MEF2C via a Calmodulin-CaMKII-HDAC cascade, and MEF2C participates in a positive-feedback loop to maintain its own expression. CRISPR enhancer deletion in mice, transgenic reporter analysis, CaMKII/HDAC pathway manipulation, neural crest-specific conditional approaches Development (Cambridge, England) High 26160899
2016 MEF2C functions as a cell-autonomous transcriptional repressor in cortical excitatory neurons; conditional embryonic deletion in Emx1-lineage neurons causes a dramatic increase in inhibitory and decrease in excitatory synaptic transmission, increased inhibitory synapse density and decreased excitatory synapse density, and autism/ID-like behaviors. Conditional Mef2c knockout (Emx1-Cre), in vivo EEG/electrophysiology, synapse density morphology, behavior assays, differential gene expression analysis eLife High 27779093
2016 MEF2C co-regulates B cell-specific transcription with EBF1; MEF2C and EBF1 co-occupy a subset of B cell-specific gene loci genome-wide; p38 MAPK activates MEF2C to drive B cell differentiation; MEF2C interacts with HDAC7 to repress the myeloid transcription program. Genome-wide ChIP-seq for MEF2C and EBF1, Mef2c knockout mice, co-immunoprecipitation with HDAC7, gene expression analysis PLoS genetics High 26900922
2016 G9a (lysine methyltransferase) inhibits MEF2C transcriptional activity by interacting with MEF2C and its co-repressor HDAC5; in the presence of G9a, calcium signaling-dependent phosphorylation and nuclear export of HDAC5 is blocked, leading to enhanced MEF2C–HDAC5 association and repression of sarcomere gene expression. Co-immunoprecipitation (G9a with MEF2C and HDAC5), HDAC5 nuclear export assays, constitutively active CaMK rescue, sarcomere gene expression analysis Scientific reports Medium 27667720
2016 MEF2C in postnatal excitatory layer 2/3 neocortical neurons differentially regulates local versus long-range excitatory synaptic inputs in an experience-dependent manner; cell-autonomous postsynaptic deletion suppressed local excitatory connections while promoting contralateral neocortical inputs, both requiring normal whisking experience. Sparse postnatal conditional Mef2c deletion, in vivo electrophysiology/optogenetics, whisker deprivation Neuron High 27989458
2016 MEF2C identifies and directly activates Tdgf1 (Cripto/Nodal co-receptor) transcription through an AHF-restricted enhancer in the outflow tract; loss of Mef2c in the anterior second heart field causes outflow tract alignment defects ranging from overriding aorta to dextro-transposition. Conditional Mef2c knockout in AHF (Isl1-Cre), transgenic enhancer reporter analysis, ChIP for MEF2C at Tdgf1 AHF enhancer Development (Cambridge, England) High 26811383
2017 HuR (RNA-binding protein) stabilizes MEF2C mRNA by binding it (RIP assay), increasing MEF2C protein levels; elevated MEF2C then enhances SCN5A transcription by binding a MEF2C site in the SCN5A promoter (confirmed by ChIP and EMSA); MEF2C siRNA attenuates HuR-induced SCN5A upregulation. RIP assay, ChIP-qPCR, EMSA, siRNA knockdown, overexpression in cardiomyocytes Journal of the American Heart Association Medium 29678826
2017 NOTCH1 intracellular domain upregulates SNAIL1 expression in embryonal rhabdomyosarcoma, which suppresses MEF2C (a myogenic differentiation transcription factor), enabling de-differentiation into self-renewing myf5+ tumor-propagating cells. Zebrafish transgenic ERMS model, human ERMS cell overexpression/knockdown, tumor propagation assays Cell reports Medium 28614716
2018 MEF2C S222 phosphorylation (induced by MARK kinases) is required for leukemia stem cell maintenance; Mef2c knock-in mice blocking MEF2C S222 phosphorylation were resistant to MLL-AF9-induced leukemogenesis; MARK/SIK inhibitor MRT199665 caused apoptosis and chemosensitivity in MEF2C-phosphorylated AML. Functional proteomics of patient AML, Mef2c S222A knock-in mice, MARK kinase inhibitor treatment, AML cell line and primary patient specimen assays Cancer discovery High 29431698
2018 LKB1 and Salt-Inducible Kinases (SIK3, with partial redundancy from SIK2) maintain MEF2C function in AML through phosphorylation of HDAC4 (a repressive cofactor of MEF2C); targeting LKB1 or SIK3 diminishes histone acetylation at MEF2C-bound enhancers; chemical SIK inhibition blocks MEF2C function. Domain-focused CRISPR screen, genetic validation of LKB1/SIK3/HDAC4 pathway, ChIP-seq for histone acetylation at MEF2C enhancers, SIK inhibitor treatment of AML cells Molecular cell High 29526696
2018 Lipin1 regulates MEF2c expression via the PKCμ/HDAC5 pathway; lipin1 deficiency suppresses PKC isoform activity and HDAC5 nuclear export, thereby blocking MEF2c and MyoD expression; restoration of diacylglycerol signaling by PMA transiently restored HDAC5 export and MEF2c expression. Myf5-cre conditional Lipin1 knockout mice, phorbol ester rescue, HDAC5 nuclear export imaging, gene expression analysis The Journal of physiology Medium 30511745
2018 Cardiovascular development and lethality depend on MEF2C function specifically in the early myocardial lineage (Nkx2-5Cre deletion recapitulates global knockout phenotype), but early endothelial-specific deletion (Etv2::Cre) has no overt vascular defects, demonstrating that MEF2C's vascular requirement is secondary to its cardiac requirement. Lineage-specific conditional Mef2c knockout using Nkx2-5Cre and Etv2::Cre; histological and molecular phenotyping Developmental biology High 30521808
2019 MEF2C binds to FOS regulatory regions to directly induce c-FOS expression, which leads to NFATc1 activation and downstream osteoclastogenesis; MEF2C is a positive regulator of osteoclast differentiation, and inducible Mef2c deletion in mice increased bone mass and protected against bone erosion in inflammatory arthritis. ChIP for MEF2C at FOS promoter, ectopic MEF2C expression, inducible Mef2c conditional knockout mice, K/BxN serum arthritis model, transcriptomics Bone research High 33424022
2019 MEF2C directly binds the Gpx4 promoter and activates GPX4 transcription, thereby suppressing ferroptosis; MEF2C overexpression ameliorated postoperative cognitive dysfunction in mice by inhibiting lipid peroxidation and iron accumulation through GPX4. Dual-luciferase reporter assay, ChIP for MEF2C at Gpx4 promoter, AAV9-mediated MEF2C overexpression in POCD mouse model, RSL3 GPX4 inhibitor rescue experiments CNS neuroscience & therapeutics Medium 39350345
2020 MEF2C haploinsufficiency syndrome-associated missense mutations cluster in the conserved DNA-binding domain and disrupt MEF2C DNA binding; DNA binding-deficient global Mef2c heterozygous mice display MCHS-related behaviors; MEF2C in forebrain excitatory neurons controls excitatory synaptic transmission while MEF2C in microglia controls social and repetitive behavior. Structural/functional analysis of patient mutations, conditional heterozygous Mef2c knockout in excitatory neurons and microglia, electrophysiology, behavior assays, cortical RNA-seq Biological psychiatry High 32418612
2020 MEF2C function in postnatal excitatory forebrain neurons is required for sleep-loss-regulated gene expression, the increase and recovery of synaptic strength, and the rebound and resolution of slow-wave sleep slow-wave activity; sleep loss regulates MEF2C phosphorylation as a key mechanism of MEF2C transcriptional activity. Conditional Mef2c knockout in postnatal excitatory forebrain neurons, EEG/SWA measurement, synaptic strength assays, phospho-MEF2C analysis eLife High 32851972
2020 GluN3A NMDAR subunit knockdown promotes p38 MAPK nuclear accumulation, which activates MEF2C and drives transcription of MEF2C-dependent synaptic activity-regulated genes (Bdnf, Arc) in developing hippocampal neurons. GluN3A shRNA knockdown in rat hippocampal neurons, reporter gene assays, RNA-Seq, pharmacological p38 inhibition, two-photon calcium imaging The Journal of biological chemistry Medium 32393578
2021 MEF2C directly drives transcription of NF2 and CDH1 (E-cadherin) as shown by luciferase reporter assay and ChIP in meningioma cells; MEF2C silencing downregulates NF2 and E-cadherin, enhancing ferroptosis susceptibility, which is counteracted by forced re-expression of NF2 or E-cadherin. Luciferase reporter assay, ChIP, siRNA knockdown, forced expression rescue, xenograft mouse model Neuro-oncology Medium 33984142
2021 MEF2C directly promotes expression of IL-12 p35 (Il12a) and IL-12 p40 (Il12b) subunits to drive M1 macrophage polarization and Th1 responses; myeloid-specific Mef2c-knockout mice showed reduced IL-12 production, impaired Th1 responses, susceptibility to Listeria infection, and protection against DSS-induced IBD. Myeloid-specific Mef2c conditional knockout mice, ChIP/reporter assays for MEF2C at Il12a/Il12b, infection and colitis models, global gene expression analysis Cellular & molecular immunology High 35194174
2022 MEF2C is required for an IL-2- and IL-15-mediated increase in lipid content in NK cells through regulation of SREBP pathways; MEF2C-haploinsufficient patients and mice displayed defects in NK cell development and cytotoxic function; oleic acid supplementation restored cytotoxic function in MEF2C-deficient NK cells. Non-viral CRISPR-Cas9 KO screen (31 TFs), MEF2C-haploinsufficient patient NK cell analysis, lipid content measurement, SREBP pathway analysis, oleic acid rescue Nature immunology High 38589619
2022 MEF2C opposes Notch-induced T cell differentiation and promotes a B-lineage transcriptional program (including RUNX1, GATA3, LMO2, BCL2, IL-7R upregulation) in ETP-ALL; SIK inhibitors impair MEF2C activity and alleviate the T cell developmental block caused by elevated MEF2C. In vivo and in vitro ETP-ALL models, conditional MEF2C overexpression in mouse/human progenitors, SIK inhibitor treatment, gene expression analysis JCI insight Medium 35536646
2022 METTL3-mediated m6A methylation of MEF2C mRNA promotes MEF2C protein expression in an m6A-YTHDF1-dependent manner during skeletal myoblast differentiation; MEF2C with mutated m6A sites inhibited myoblast differentiation; MEF2C promotes METTL3 expression by binding to the METTL3 promoter, forming a positive feedback loop. m6A-site mutagenesis of MEF2C mRNA, YTHDF1 knockdown, METTL3 knockdown/overexpression, ChIP for MEF2C at METTL3 promoter, myoblast differentiation assays Frontiers in veterinary science Medium 35573410
2023 Activated MEF2C recruits p300 and multiple cardiogenic transcription factors to cardiac loci to induce chromatin remodeling during cardiomyocyte reprogramming; p300 inhibition suppressed cardiac gene expression and iCM maturation; MEF2C acts as a pioneer factor in this process. MyoD transactivation domain fusion to MEF2C, p300 inhibitor treatment, ChIP-seq for MEF2C and p300 at cardiac loci, beating iCM quantification Stem cell reports Medium 37315521
2023 Pathological tau activates cGAS-IFN-I signaling in microglia (partly via cytosolic mitochondrial DNA leakage), which decreases the neuronal MEF2C transcriptional network; cGAS ablation preserved MEF2C expression network, synapse integrity and plasticity; pharmacological cGAS inhibition enhanced the neuronal MEF2C network and restored memory. Cgas conditional knockout in tauopathy mice, microglial IFN-I response measurement, synaptic integrity assays, behavioral testing, transcriptomic analysis of MEF2C network Nature neuroscience High 37095396
2024 Loss of MEF2C from parvalbumin-expressing interneurons (PV-INs) during embryonic (but not late postnatal) development results in reduced PV-IN number, failure of PV-INs to molecularly and synaptically mature, abnormal cortical network activity, hyperactivity, stereotypy, and impaired cognitive/social behavior. Conditional Mef2c deletion in PV-INs at embryonic vs. postnatal timepoints, slice electrophysiology, in vivo recordings, behavior assays Biological psychiatry High 38848814
2019 MEF2C binds the CAIII promoter between −416 and −200 bp and activates CAIII transcription in response to [Ca2+]i changes; CaMKII is the key upstream kinase activating MEF2C in this Ca2+-CaMKII-MEF2C pathway regulating CAIII expression in skeletal muscle. ChIP, luciferase promoter assay, RNA interference, MEF2C overexpression, CaMKII inhibitor/activator experiments in skeletal muscle cells Experimental cell research Medium 31614133
2019 MEF2C activates the MYC super-enhancer (525ESE) in EBV-transformed lymphoblastoid cells; MEF2C depletion decreased 525ESE reporter activity, MYC expression, LCL growth, and IRF4/EBNA2/SPI1 binding to 525ESE; MEF2C cDNA resistant to CRISPR rescued reporter activity and MYC expression. Genome-wide CRISPR screen, MEF2C CRISPR knockout, rescue with MEF2C cDNA, luciferase reporter assay, ChIP for transcription factor binding at 525ESE Journal of virology High 31167905
2020 MEF2C splicing variant γ+ (transrepressor isoform) is upregulated in human and mouse failing hearts; MEF2Cγ+ overexpression drives incomplete cell-cycle re-entry, partial dedifferentiation and apoptosis in cardiomyocytes, and causes dilated cardiomyopathy in transgenic mice, while MEF2Cγ- overexpression does not produce these effects. Adenoviral MEF2C isoform overexpression in rat cardiomyocytes, transgenic mice with cardiac-specific MEF2Cγ+/γ-, confocal/electron microscopy, flow cytometry, DNA microarray, heart failure patient samples EBioMedicine High 31911274

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 p38 mitogen-activated protein kinase pathway promotes skeletal muscle differentiation. Participation of the Mef2c transcription factor. The Journal of biological chemistry 378 9988769
2007 MEF2C transcription factor controls chondrocyte hypertrophy and bone development. Developmental cell 346 17336904
2023 Tau activation of microglial cGAS-IFN reduces MEF2C-mediated cognitive resilience. Nature neuroscience 218 37095396
2014 Stoichiometry of Gata4, Mef2c, and Tbx5 influences the efficiency and quality of induced cardiac myocyte reprogramming. Circulation research 194 25416133
2016 MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders. eLife 151 27779093
2008 Transcription factor Mef2c is required for B cell proliferation and survival after antigen receptor stimulation. Nature immunology 147 18438409
2001 The Mef2c gene is a direct transcriptional target of myogenic bHLH and MEF2 proteins during skeletal muscle development. Development (Cambridge, England) 132 11714687
2015 HDAC5 controls MEF2C-driven sclerostin expression in osteocytes. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 126 25271055
2018 LKB1, Salt-Inducible Kinases, and MEF2C Are Linked Dependencies in Acute Myeloid Leukemia. Molecular cell 123 29526696
2022 MEF2C promotes M1 macrophage polarization and Th1 responses. Cellular & molecular immunology 110 35194174
2008 A p38 MAPK-MEF2C pathway regulates B-cell proliferation. Proceedings of the National Academy of Sciences of the United States of America 99 18955699
2015 MiR-135b-5p and MiR-499a-3p Promote Cell Proliferation and Migration in Atherosclerosis by Directly Targeting MEF2C. Scientific reports 86 26184978
2012 Notch3 and Mef2c proteins are mutually antagonistic via Mkp1 protein and miR-1/206 microRNAs in differentiating myoblasts. The Journal of biological chemistry 81 23055528
2017 NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. Nature communications 79 29133852
2008 Cooperative interaction of Nkx2.5 and Mef2c transcription factors during heart development. Developmental dynamics : an official publication of the American Association of Anatomists 79 19035347
2012 Disruption of MEF2C signaling and loss of sarcomeric and mitochondrial integrity in cancer-induced skeletal muscle wasting. Aging 71 22361433
2012 Mef2c deletion in osteocytes results in increased bone mass. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 69 22161640
2018 MEF2C Phosphorylation Is Required for Chemotherapy Resistance in Acute Myeloid Leukemia. Cancer discovery 68 29431698
2021 MEF2C silencing downregulates NF2 and E-cadherin and enhances Erastin-induced ferroptosis in meningioma. Neuro-oncology 67 33984142
2009 Homing and invasiveness of MLL/ENL leukemic cells is regulated by MEF2C. Blood 65 19584403
2015 Transcription factor MEF2C suppresses endothelial cell inflammation via regulation of NF-κB and KLF2. Journal of cellular physiology 63 25474999
2017 miR-124 and miR-9 mediated downregulation of HDAC5 promotes neurite development through activating MEF2C-GPM6A pathway. Journal of cellular physiology 62 28332716
2017 The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma. Cell reports 53 28614716
2001 SOX18 directly interacts with MEF2C in endothelial cells. Biochemical and biophysical research communications 53 11554755
2020 MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice. Biological psychiatry 52 32418612
2016 MEF2C-MYOCD and Leiomodin1 Suppression by miRNA-214 Promotes Smooth Muscle Cell Phenotype Switching in Pulmonary Arterial Hypertension. PloS one 50 27144530
2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. Molecular syndromology 50 22670137
2021 MEF2C regulates osteoclastogenesis and pathologic bone resorption via c-FOS. Bone research 49 33424022
2016 MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1. Development (Cambridge, England) 49 26811383
2015 Phosphorylation-dependent degradation of MEF2C contributes to regulate G2/M transition. Cell cycle (Georgetown, Tex.) 49 25789873
2009 Mef2C is a lineage-restricted target of Scl/Tal1 and regulates megakaryopoiesis and B-cell homeostasis. Blood 49 19211936
2018 Cardiovascular development and survival require Mef2c function in the myocardial but not the endothelial lineage. Developmental biology 48 30521808
2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. European journal of medical genetics 48 27255693
2004 GATA-4 and MEF2C transcription factors control the tissue-specific expression of the alphaT-catenin gene CTNNA3. Nucleic acids research 43 15302915
2018 MiR-204-5p regulates C2C12 myoblast differentiation by targeting MEF2C and ERRγ. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 42 29505923
2020 An essential role for MEF2C in the cortical response to loss of sleep in mice. eLife 40 32851972
2016 Experience-Dependent and Differential Regulation of Local and Long-Range Excitatory Neocortical Circuits by Postsynaptic Mef2c. Neuron 40 27989458
2017 Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements. Journal of pediatric genetics 39 28794905
2017 MEF2C mRNA expression and cognitive function in Japanese patients with Alzheimer's disease. Psychiatry and clinical neurosciences 39 29112298
2017 MiR-448 promotes vascular smooth muscle cell proliferation and migration in through directly targeting MEF2C. Environmental science and pollution research international 38 28799067
2011 Gli2 and MEF2C activate each other's expression and function synergistically during cardiomyogenesis in vitro. Nucleic acids research 38 22199256
2009 Foxj3 transcriptionally activates Mef2c and regulates adult skeletal muscle fiber type identity. Developmental biology 38 19914232
2020 Downregulation of circulating miR 802-5p and miR 194-5p and upregulation of brain MEF2C along breast cancer brain metastasization. Molecular oncology 36 31930767
2016 LncRNA-uc.167 influences cell proliferation, apoptosis and differentiation of P19 cells by regulating Mef2c. Gene 36 27268728
2018 MicroRNA-499-5p regulates skeletal myofiber specification via NFATc1/MEF2C pathway and Thrap1/MEF2C axis. Life sciences 34 30419283
2016 MEF2C and EBF1 Co-regulate B Cell-Specific Transcription. PLoS genetics 33 26900922
2017 MEF2C loss-of-function mutation contributes to congenital heart defects. International journal of medical sciences 31 29104469
2021 MEF2C shapes the microtranscriptome during differentiation of skeletal muscles. Scientific reports 30 33568691
2015 Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway. Development (Cambridge, England) 30 26160899
2024 MEF2C regulates NK cell effector functions through control of lipid metabolism. Nature immunology 29 38589619
2023 Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice. Nature neuroscience 29 38012399
2012 Tbx1 is a negative modulator of Mef2c. Human molecular genetics 29 22367967
2016 MEF2C protects bone marrow B-lymphoid progenitors during stress haematopoiesis. Nature communications 28 27507714
2018 A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle. Pediatric cardiology 26 29468350
2022 MEF2C ameliorates learning, memory, and molecular pathological changes in Alzheimer’s disease in vivo and in vitro. Acta biochimica et biophysica Sinica 24 35130621
2022 Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. American journal of human genetics 23 36283406
2019 MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review. Seizure 23 30922778
2019 Stoichiometric optimization of Gata4, Hand2, Mef2c, and Tbx5 expression for contractile cardiomyocyte reprogramming. Scientific reports 23 31628386
2016 G9a inhibits MEF2C activity to control sarcomere assembly. Scientific reports 23 27667720
2022 MEF2C opposes Notch in lymphoid lineage decision and drives leukemia in the thymus. JCI insight 22 35536646
2018 RNA Binding Protein, HuR, Regulates SCN5A Expression Through Stabilizing MEF2C transcription factor mRNA. Journal of the American Heart Association 22 29678826
2020 Circular RNA circ_DROSHA alleviates the neural damage in a cell model of temporal lobe epilepsy through regulating miR-106b-5p/MEF2C axis. Cellular signalling 21 33370579
2018 MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. Clinical chemistry and laboratory medicine 20 28902616
2024 MEF2C Alleviates Postoperative Cognitive Dysfunction by Repressing Ferroptosis. CNS neuroscience & therapeutics 19 39350345
2023 MEF2C/p300-mediated epigenetic remodeling promotes the maturation of induced cardiomyocytes. Stem cell reports 19 37315521
2020 The NMDA receptor subunit GluN3A regulates synaptic activity-induced and myocyte enhancer factor 2C (MEF2C)-dependent transcription. The Journal of biological chemistry 19 32393578
2016 MEF2D and MEF2C pathways disruption in sporadic and familial ALS patients. Molecular and cellular neurosciences 19 26921792
2021 Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review. American journal of medical genetics. Part A 18 34184825
2020 Significance of MEF2C and RUNX3 Regulation for Endochondral Differentiation of Human Mesenchymal Progenitor Cells. Frontiers in cell and developmental biology 18 32195247
2013 Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. Journal of medical genetics 18 23572186
2013 MEF2C exon α: role in gene activation and differentiation. Gene 18 24008018
2022 Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis. Cells 17 35406681
2019 TAF Family Proteins and MEF2C Are Essential for Epstein-Barr Virus Super-Enhancer Activity. Journal of virology 17 31167905
2018 Lipin1 is required for skeletal muscle development by regulating MEF2c and MyoD expression. The Journal of physiology 17 30511745
2020 MEF2C repressor variant deregulation leads to cell cycle re-entry and development of heart failure. EBioMedicine 16 31911274
2017 Involment of RAS/ERK1/2 signaling and MEF2C in miR-155-3p inhibition-triggered cardiomyocyte differentiation of embryonic stem cell. Oncotarget 16 29137434
2013 Mef2c regulates transcription of the extracellular matrix protein cartilage link protein 1 in the developing murine heart. PloS one 16 23468913
2007 Mef2c is an essential regulatory element required for unique expression of the cardiac-specific CARK gene. Journal of cellular and molecular medicine 16 18021318
2005 Dominant negative FTase (DNFTalpha) inhibits ERK5, MEF2C and CREB activation in adipogenesis. Molecular and cellular endocrinology 15 16356629
2024 The Mef2c Gene Dose-Dependently Controls Hippocampal Neurogenesis and the Expression of Autism-Like Behaviors. The Journal of neuroscience : the official journal of the Society for Neuroscience 14 38123360
2023 LncRNA SNHG14 activates autophagy via regulating miR-493-5p/Mef2c axis to alleviate osteoporosis progression. Communications biology 14 37925525
2005 MEF2C DNA-binding activity is inhibited through its interaction with the regulatory protein Ki-1/57. FEBS letters 14 15862299
2022 MEF2C Expression Is Regulated by the Post-transcriptional Activation of the METTL3-m6A-YTHDF1 Axis in Myoblast Differentiation. Frontiers in veterinary science 13 35573410
2020 Isoform Specific Effects of Mef2C during Direct Cardiac Reprogramming. Cells 13 31979018
2019 MiR-21, MiR-29a, GATA4, and MEF2c Expression Changes in Endothelin-1 and Angiotensin II Cardiac Hypertrophy Stimulated Isl-1+Sca-1+c-kit+ Porcine Cardiac Progenitor Cells In Vitro. Cells 13 31717562
2024 Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids. Molecular psychiatry 12 39349966
2023 Mutation of TP53 Confers Ferroptosis Resistance in Lung Cancer Through the FOXM1/MEF2C Axis. The American journal of pathology 12 37236507
2022 Stachydrine hydrochloride ameliorates cardiac hypertrophy through CaMKII/HDAC4/MEF2C signal pathway. American journal of translational research 12 35836883
2020 Methylation‑associated silencing of miR‑638 promotes endometrial carcinoma progression by targeting MEF2C. International journal of molecular medicine 12 32186750
2017 Function analysis of Mef2c promoter in muscle differentiation. Biotechnology and applied biochemistry 12 27354201
2023 MEF2C and miR-194-5p: New Players in Triple Negative Breast Cancer Tumorigenesis. International journal of molecular sciences 11 37762600
2021 Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. Seizure 11 33831796
2020 Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism. EMBO reports 11 33016573
2018 Novel formononetin-7-sal ester ameliorates pulmonary fibrosis via MEF2c signaling pathway. Toxicology and applied pharmacology 11 29990528
2024 Developmental Disruption of Mef2c in Medial Ganglionic Eminence-Derived Cortical Inhibitory Interneurons Impairs Cellular and Circuit Function. Biological psychiatry 10 38848814
2022 Sox9 Promotes Cardiomyocyte Apoptosis After Acute Myocardial Infarction by Promoting miR-223-3p and Inhibiting MEF2C. Molecular biotechnology 10 35229259
2022 Functional significance of novel variants of the MEF2C gene promoter in congenital ventricular septal defects. American journal of medical genetics. Part A 10 35719119
2023 Role of MEF2C in the Endothelial Cells Derived from Human Induced Pluripotent Stem Cells. Stem cells (Dayton, Ohio) 9 36639926
2021 Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations. Frontiers in pediatrics 9 34055696
2019 CAIII expression in skeletal muscle is regulated by Ca2+-CaMKII-MEF2C signaling. Experimental cell research 9 31614133

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