| 1 | ACTN2, ACTN3, ATF4, ATF6, XBP1
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| Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes
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| Harada N, Gotoda Y, Hatakeyama A, Nakagawa T, Miyatake Y, Kuroda M, Masumoto S, Tsutsumi R, Nakaya Y, Sakaue H.
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| J Muscle Res Cell Motil. Sep;41(2-3):199-209. doi: 10.1007/s10974-020-09582-7. Epub 2020 May 25 2020
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| 2 | ACTN2, MYOCOZ
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| ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
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| Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J.
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| Acta Neuropathol. Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. 2019
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| 3 | ACTN2, MPD6
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| Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
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| Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B.
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| Ann Neurol. Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. 2019
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| 4 | ACTN2, MPD6
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| Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
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| Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B.
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| Ann Neurol. Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. 2019
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| 5 | ACTN2, MPD6
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| Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation
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| Haywood NJ, Wolny M, Rogers B, Trinh CH, Shuping Y, Edwards TA, Peckham M.
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| Biochem J. Aug 15;473(16):2485-93. doi: 10.1042/BCJ20160421. Epub 2016 Jun 10. 2016
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| 6 | ACTN2, FERMT2
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| Kindlin-2 interacts with α-actinin-2 and β1 integrin to maintain the integrity of the Z-disc in cardiac muscles
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| Qi L, Yu Y, Chi X, Xu W, Lu D, Song Y, Zhang Y, Zhang H.
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| FEBS Lett. Jul 22;589(16):2155-62. doi: 10.1016/j.febslet.2015.06.022. Epub 2015 Jul 2 2015
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| 7 | ACTN2, CMD1AA
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| Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study
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| Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I.
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| Circ Cardiovasc Genet. Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30 2014
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| 8 | ACTN2, MPD6
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| Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
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| Bagnall RD, Molloy LK, Kalman JM, Semsarian C
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| BMC Med Genet. Sep 16;15:99. doi: 10.1186/s12881-014-0099-0. 2014
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| 9 | ACTN2, DM1, PDLIM3
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| Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
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| Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
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| Biochem Biophys Res Commun 409(1):64-9. Epub 2011 Apr 28. 2011
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| 10 | ACTN2
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| Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
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| Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C.
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| J Am Coll Cardiol 55(11):1127-35.
2010
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| 11 | ACTN2, CMD1AA
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| Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 2010
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| Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C.
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| J Am Coll Cardiol. Mar 16;55(11):1127-35. doi: 10.1016/j.jacc.2009.11.016. 2010
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| 12 | ACTN2, KCNN2
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| Alpha-actinin2 cytoskeletal protein is required for the functional membrane localization of a Ca2+-activated K+ channel (SK2 channel).
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| Lu L, Timofeyev V, Li N, Rafizadeh S, Singapuri A, Harris TR, Chiamvimonvat N.
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| Proc Natl Acad Sci U S A 106(43):18402-7. Epub 2009 Oct 8.
2009
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| 13 | ACTN2, RAPSN
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| alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering.
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| Dobbins GC, Luo S, Yang Z, Xiong WC, Mei L.
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| Mol Brain 1:18.
2008
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| 14 | ACTN2, ACTN3
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| The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.
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| Agarwal SK, Simonds WF, Marx SJ.
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| Mol Cancer 7:65.
2008
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| 15 | ACTN2, KCNN2
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| Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2.
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| Lu L, Zhang Q, Timofeyev V, Zhang Z, Young JN, Shin HS, Knowlton AA, Chiamvimonvat N.
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| Circ Res 100(1):112-20. Epub 2006 Nov 16.
2007
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| 16 | ACTN2, PKD2
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| Alpha-actinin associates with polycystin-2 and regulates its channel activity.
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| Li Q, Montalbetti N, Shen PY, Dai XQ, Cheeseman CI, Karpinski E, Wu G, Cantiello HF, Chen XZ.
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| Hum Mol Genet 14(12):1587-603. Epub 2005 Apr 20.
2005
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| 17 | ACTN2, PDLIM2
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| Pdlim2, a novel PDZ-LIM domain protein, interacts with alpha-actinins and filamin A.
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| Torrado M, Senatorov VV, Trivedi R, Fariss RN, Tomarev SI.
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| Invest Ophthalmol Vis Sci 45(11):3955-63.
2004
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| 18 | ACTN2, CMD1M, CSRP3
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| Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
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| Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE.
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| Mol Genet Metab 80(1-2):207-15. 2003
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| 19 | ACTN2, KCNA4, KCNA5
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| A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of alpha-actinin-2.
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| Cukovic D, Lu GW, Wible B, Steele DF, Fedida D.
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| FEBS Lett 498(1):87-92. 2001
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| 20 | ACTN2
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| alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex.
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| Hance JE, et al.
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| Arch Biochem Biophys 365(2):216-22. 1999
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| 21 | ACTN2
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| Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle.
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| Tiso N, Majetti M, Stanchi F, Rampazzo A, Zimbello R, Nava A, Danieli GA.
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| Biochem Biophys Res Commun 265(1):256-9 1999
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| 22 | ACTN2, ACTN3
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| Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
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| Beggs AH, et al.
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| J Biol Chem 267 : 9281-9288. 1992
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| 23 | ACTN2
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| A(CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.
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| Beggs AH, et al.
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| Genomics 13 : 1314-1315. 1992
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