Citations for
1DEL5Q14, MEF2C
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
Zweier M, Rauch A.
Mol Syndromol 2(3-5):164-170. Epub 2012 Apr 16. 2012
2MEF2C, TBX1
Tbx1 is a negative modulator of Mef2c.
Pane LS, Zhang Z, Ferrentino R, Huynh T, Cutillo L, Baldini A.
Hum Mol Genet 21(11):2485-96. doi: 10.1093/hmg/dds063. Epub 2012 Feb 24. 2012
3DEL5Q14, MEF2C
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less.
Tonk V, Kyhm JH, Gibson CE, Wilson GN.
Am J Med Genet A 155(6):1437-41. doi: 10.1002/ajmg.a.34012. Epub 2011 May 12. 2011
4DEL5Q14, MEF2C
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N.
Am J Med Genet A 155(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11. 2011
5CPLM, DEL5Q14, MEF2C, RASA1
5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.
Am J Med Genet A 155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. 2011
6MEF2A, MEF2C, SOX10
The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10.
Agarwal P, Verzi MP, Nguyen T, Hu J, Ehlers ML, McCulley DJ, Xu SM, Dodou E, Anderson JP, Wei ML, Black BL.
Development 138(12):2555-65. 2011
7MEF2C
Skeletal myosin light chain kinase regulates skeletal myogenesis by phosphorylation of MEF2C.
Al Madhoun AS, Mehta V, Li G, Figeys D, Wiper-Bergeron N, Skerjanc IS.
EMBO J 30(12):2477-89. doi: 10.1038/emboj.2011.153. 2011
8GLI2, MEF2C
Gli2 and MEF2C activate each other's expression and function synergistically during cardiomyogenesis in vitro.
Voronova A, Al Madhoun A, Fischer A, Shelton M, Karamboulas C, Skerjanc IS.
Nucleic Acids Res ucleic Acids Res. 2011 Dec 22. [Epub ahead of print] 2011
9CHL1, FOXG, KLHL17, MEF2C, SNPH
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB.
Eur J Hum Genet 19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22. 2011
10DEL5Q14, MEF2C
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D.
J Med Genet 47(1):22-9. Epub 2009 Jul 9. 2010
11DEL5Q14, MEF2C
Refining the phenotype associated with MEF2C haploinsufficiency.
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Bernardina BD, Zuffardi O, Van Esch H.
Clin Genet lin Genet. 2010 Apr 14. [Epub ahead of print]PMID: 20412115 2010
12DEL5Q14, MEF2C
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.
Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2010 Mar 23. [Epub ahead of print]PMID: 20333642 2010
13MEF2C, PIN1
Proline isomerase Pin1 represses terminal differentiation and myocyte enhancer factor 2C function in skeletal muscle cells.
Magli A, Angelelli C, Ganassi M, Baruffaldi F, Matafora V, Battini R, Bachi A, Messina G, Rustighi A, Del Sal G, Ferrari S, Molinari S.
J Biol Chem 285(45):34518-27. Epub 2010 Aug 27. 2010
14DEL5Q14, MEF2C
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A.
Hum Mutat 31(6):722-33. 2010
15MEF2C
Autistic phenotype from MEF2C knockout cells.
Lipton SA, Li H, Zaremba JD, McKercher SR, Cui J, Kang YJ, Nie Z, Soussou W, Talantova M, Okamoto S, Nakanishi N.
Science 323(5911):208. No abstract available. 2009
16HDAC4, MEF2A, MEF2B, MEF2C
The deacetylase HDAC4 controls myocyte enhancing factor-2-dependent structural gene expression in response to neural activity.
Cohen TJ, Barrientos T, Hartman ZC, Garvey SM, Cox GA, Yao TP.
FASEB J 23(1):99-106. Epub 2008 Sep 9. 2009
17MEF2C, MYH6, TBX5
Physical interaction between TBX5 and MEF2C is required for early heart development.
Ghosh TK, Song FF, Packham EA, Buxton S, Robinson TE, Ronksley J, Self T, Bonser AJ, Brook JD.
Mol Cell Biol 29(8):2205-18. Epub 2009 Feb 9. 2009
18GNA13, MEF2A, MEF2B, MEF2C
Galpha13 regulates MEF2-dependent gene transcription in endothelial cells: role in angiogenesis.
Liu G, Han J, Profirovic J, Strekalova E, Voyno-Yasenetskaya TA.
Angiogenesis 12(1):1-15. Epub 2008 Dec 18.PMID: 19093215 2009
19MEF2C
MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function.
Barbosa AC, Kim MS, Ertunc M, Adachi M, Nelson ED, McAnally J, Richardson JA, Kavalali ET, Monteggia LM, Bassel-Duby R, Olson EN.
Proc Natl Acad Sci U S A 105(27):9391-6. Epub 2008 Jul 1. 2008
20MEF2C
Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo.
Li H, Radford JC, Ragusa MJ, Shea KL, McKercher SR, Zaremba JD, Soussou W, Nie Z, Kang YJ, Nakanishi N, Okamoto S, Roberts AJ, Schwarz JJ, Lipton SA.
Proc Natl Acad Sci U S A 105(27):9397-402. Epub 2008 Jul 1. 2008
21MEF2C
MEF2C is activated by multiple mechanisms in a subset of T-acute lymphoblastic leukemia cell lines.
Nagel S, Meyer C, Quentmeier H, Kaufmann M, Drexler HG, MacLeod RA.
Leukemia 22(3):600-7. Epub 2007 Dec 13. 2008
22CABIN1, MEF2A, MEF2B, MEF2C, MEF2D, SUV39H1
Cabin1 represses MEF2 transcriptional activity by association with a methyltransferase, SUV39H1.
Jang H, Choi DE, Kim H, Cho EJ, Youn HD.
J Biol Chem 282(15):11172-9. Epub 2006 Dec 17. 2007
23ATXN1, HDAC4, MEF2A, MEF2B, MEF2C, MEF2D
The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2.
Bolger TA, Zhao X, Cohen TJ, Tsai CC, Yao TP.
J Biol Chem 282(40):29186-92. Epub 2007 Jul 23. 2007
24MEF2A, MEF2B, MEF2C, PTH, SOST
Control of the SOST bone enhancer by PTH using MEF2 transcription factors.
Leupin O, Kramer I, Collette NM, Loots GG, Natt F, Kneissel M, Keller H.
J Bone Miner Res 22(12):1957-67.PMID: 17696759 2007
25MEF2C
MEF2C is required for the normal allocation of cells between the ventricular and sinoatrial precursors of the primary heart field.
Vong L, Bi W, O'Connor-Halligan KE, Li C, Cserjesi P, Schwarz JJ.
Dev Dyn 235(7):1809-21.PMID: 16680724 2006
26HABP4, MEF2C
MEF2C DNA-binding activity is inhibited through its interaction with the regulatory protein Ki-1/57.
Kobarg CB, Kobarg J, Crosara-Alberto DP, Theizen TH, Franchini KG.
FEBS Lett 579(12):2615-22. Epub 2005 Apr 8. 2005
27MEF2A, MEF2C, MEF2D
Alternative pre-mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain.
Zhu B, Ramachandran B, Gulick T.
J Biol Chem 280(31):28749-60. Epub 2005 Apr 15. 2005
28MEF2C, SMYD1
BOP, a regulator of right ventricular heart development, is a direct transcriptional target of MEF2C in the developing heart.
Phan D, Rasmussen TL, Nakagawa O, McAnally J, Gottlieb PD, Tucker PW, Richardson JA, Bassel-Duby R, Olson EN.
Development 132(11):2669-78. 2005
29POLG2, CDR2, RCVRN, APBB1, MAP6, CLPB, PKIA, ADIPOR1, CYB5R1, GUK1, ADCY2, MEF2C, NT5E
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.
Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A.
Hum Mol Genet 13(14):1487-503. Epub 2004 May 26. 2004
30MAPK14, MEF2C
p38 MAP kinase signalling is required for hypertrophic chondrocyte differentiation.
Stanton LA, Sabari S, Sampaio AV, Underhill TM, Beier F.
Biochem J 378(Pt 1):53-62. 2004
31MEF2A, MEF2B, MEF2C, MEF2D, NFATC2
Myocyte enhancer factor 2 mediates calcium-dependent transcription of the interleukin-2 gene in T lymphocytes: a calcium signaling module that is distinct from but collaborates with the nuclear factor of activated T cells (NFAT).
Pan F, Ye Z, Cheng L, Liu JO.
J Biol Chem 279(15):14477-80. Epub 2004 Jan 13. 2004
32GATA4, MEF2C, CTNNA3
GATA-4 and MEF2C transcription factors control the tissue-specific expression of the alphaT-catenin gene CTNNA3.
Vanpoucke G, Goossens S, De Craene B, Gilbert B, van Roy F, Berx G.
Nucleic Acids Res 32(14):4155-65. Print 2004. 2004
33MEF2A, MEF2B, MEF2C
Regulation of skeletal myogenesis by association of the MEF2 transcription factor with class II histone deacetylases.
Lu J, McKinsey TA, Zhang CL, Olson EN.
Mol Cell 6(2):233-44. 2000
34CABIN1, HDAC4, MEF2C
Calcium regulates transcriptional repression of myocyte enhancer factor 2 by histone deacetylase 4.
Youn HD, Grozinger CM, Liu JO.
J Biol Chem 275(29):22563-7. 2000
35MEF2A, MEF2B, MEF2C
MEF2B is a component of a smooth muscle-specific complex that binds an A/T-rich element important for smooth muscle myosin heavy chain gene expression.
Katoh Y, Molkentin JD, Dave V, Olson EN, Periasamy M.
J Biol Chem 273(3):1511-8.PMID: 9430690 1998
36MEF2C, MAPK7
BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C.
Kato Y, et al.
EMBO J 16(23):7054-66. 1997
37MEF2C
Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved.
Krainc D, Haas M, Ward DC, Lipton SA, Bruns G, Leifer D.
Genomics 29(3):809-11. 1995
38MEF2A, MEF2B, MEF2C, MEF2D
Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23.
Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL.
Genomics 29(3):704-11. 1995