1 | RCM5, TNNC1
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| Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
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| Ploski R, Rydzanicz M, Ksiazczyk TM, Franaszczyk M, Pollak A, Kosinska J, Michalak E, Stawinski P, Ziolkowska L, Bilinska ZT, Werner B.
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| Am J Med Genet A 170(12):3241-3248. doi: 10.1002/ajmg.a.37860.
2016
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2 | TNNC1
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| In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.
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| Martins AS, Parvatiyar MS, Feng HZ, Bos JM, Gonzalez-Martinez D, Vukmirovic M, Turna RS, Sanchez-Gonzalez MA, Badger CD, Zorio DA, Singh RK, Wang Y, Jin JP, Ackerman MJ, Pinto JR.
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| Circ Cardiovasc Genet 8(5):653-64. doi: 10.1161/CIRCGENETICS.114.000957.
2015
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3 | TNNC1
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| Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.
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| Li MX, Hwang PM.
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| Gene 571(2):153-66. doi: 10.1016/j.gene.2015.07.074. Review.
2015
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4 | TNNC1
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| Role of skeletal muscle in mandible development.
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| Rot I, Mardesic-Brakus S, Costain WJ, Saraga-Babic M, Kablar B.
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| Histol Histopathol 29(11):1377-94. doi: 10.14670/HH-29.1377. Review.
2014
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5 | TNNC1, TNNI3
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| The cardiac-specific N-terminal region of troponin I positions the regulatory domain of troponin C.
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| Hwang PM, Cai F, Pineda-Sanabria SE, Corson DC, Sykes BD.
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| Proc Natl Acad Sci U S A 111(40):14412-7. doi: 10.1073/pnas.1410775111.
2014
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6 | TNNC1, TNNI3
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| Regulatory domain of troponin moves dynamically during activation of cardiac muscle.
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| Sevrieva I, Knowles AC, Kampourakis T, Sun YB.
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| J Mol Cell Cardiol 75:181-7. doi: 10.1016/j.yjmcc.2014.07.015.
2014
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7 | TNNC1
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| Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
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| Kalyva A, Parthenakis FI, Marketou ME, Kontaraki JE, Vardas PE.
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| J Muscle Res Cell Motil 35(2):161-78. doi: 10.1007/s10974-014-9382-0. Review.
2014
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8 | TNNC1
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| Molecular and functional consequences of mutations in the central helix of cardiac troponin C.
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| Swindle N, Albury AN, Baroud B, Burney M, Tikunova SB.
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| Arch Biochem Biophys 548:46-53. doi: 10.1016/j.abb.2014.03.004.
2014
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9 | TNNC1
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| Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.
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| Cordina NM, Liew CK, Gell DA, Fajer PG, Mackay JP, Brown LJ.
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| Biochemistry 52(11):1950-62. doi: 10.1021/bi4000172.
2013
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10 | CMH13, TNNC1
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| A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
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| Parvatiyar MS, Landstrom AP, Figueiredo-Freitas C, Potter JD, Ackerman MJ, Pinto JR.
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| J Biol Chem 287(38):31845-55. doi: 10.1074/jbc.M112.377713.
2012
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11 | TNNC1
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| Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
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| Liu B, Tikunova SB, Kline KP, Siddiqui JK, Davis JP.
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| PLoS One 7(6):e38259. doi: 10.1371/journal.pone.0038259.
2012
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12 | TNNC1, TNNI3
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| Structural and functional consequences of the cardiac troponin C L48Q Ca(2+)-sensitizing mutation.
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| Wang D, Robertson IM, Li MX, McCully ME, Crane ML, Luo Z, Tu AY, Daggett V, Sykes BD, Regnier M.
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| Biochemistry 51(22):4473-87.
2012
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13 | TNNC1, TNNI3, TPM1
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| Nuclear cardiac troponin and tropomyosin are expressed early in cardiac differentiation of rat mesenchymal stem cells.
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| Asumda FZ, Chase PB.
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| Differentiation 83(3):106-15. doi: 10.1016/j.diff.2011.10.002.
2012
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14 | TNNC1
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| Dynamics and calcium association to the N-terminal regulatory domain of human cardiac troponin C: a multiscale computational study.
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| Lindert S, Kekenes-Huskey PM, Huber G, Pierce L, McCammon JA.
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| J Phys Chem B 116(29):8449-59. doi: 10.1021/jp212173f.
2012
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15 | TNNC1
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| Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
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| Pinto JR, Siegfried JD, Parvatiyar MS, Li D, Norton N, Jones MA, Liang J, Potter JD, Hershberger RE.
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| J Biol Chem 286(39):34404-12. Epub 2011 Aug 5.
2011
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16 | TNNC1, TPM1
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| Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
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| Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.
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| Am J Med Genet A 155A(9):2170-9. doi: 10.1002/ajmg.a.34167. Epub 2011 Aug 10.
2011
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17 | TNNC1
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| The Ca2+/Mg2+ sites of troponin C modulate crossbridge-mediated thin filament activation in cardiac myofibrils.
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| Fuchs F, Grabarek Z.
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| Biochem Biophys Res Commun 408(4):697-700. doi: 10.1016/j.bbrc.2011.04.092.
2011
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18 | TNNC1, TNNI3
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| The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments.
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| Galińska A, Hatch V, Craig R, Murphy AM, Van Eyk JE, Wang CL, Lehman W, Foster DB.
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| Circ Res 106(4):705-11. Epub 2009 Dec 24. 2010
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19 | CMH13, TNNC1
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| Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
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| Swindle N, Tikunova SB.
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| Biochemistry 49(23):4813-20.PMID: 20459070 2010
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20 | TNNC1
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| Distinct troponin C isoform requirements in cardiac and skeletal muscle.
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| Sogah VM, Serluca FC, Fishman MC, Yelon DL, Macrae CA, Mably JD.
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| Dev Dyn 239(11):3115-23.PMID: 20925115 2010
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21 | CMH13, TNNC1
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| Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.
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| van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JD, Paulus WJ, Dooijes D, van den Berg MP.
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| Circulation 121(20):2169-75. Epub 2010 May 10.PMID: 20458010 2010
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22 | TNNC1
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| Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C.
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| Parvatiyar MS, Pinto JR, Liang J, Potter JD.
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| J Biol Chem 285(36):27785-97. Epub 2010 Jun 21.PMID: 20566645 2010
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23 | TNNC1
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| Effect of calcium-sensitizing mutations on calcium binding and exchange with troponin C in increasingly complex biochemical systems.
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| Tikunova SB, Liu B, Swindle N, Little SC, Gomes AV, Swartz DR, Davis JP.
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| Biochemistry 49(9):1975-84.PMID: 20128626 2010
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24 | TNNC1
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| Distinct troponin C isoform requirements in cardiac and skeletal muscle.
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| Sogah VM, Serluca FC, Fishman MC, Yelon DL, Macrae CA, Mably JD.
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| Dev Dyn 239(11):3115-23. doi: 10.1002/dvdy.22445.
2010
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25 | CMH13, TNNC1
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| A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
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| Pinto JR, Parvatiyar MS, Jones MA, Liang J, Ackerman MJ, Potter JD.
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| J Biol Chem 284(28):19090-100. Epub 2009 May 12. 2009
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26 | CMH13, TNNC1, TNNI3
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| Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
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| Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H.
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| Circ Res 105(4):375-82. Epub 2009 Jul 9. 2009
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27 | TNNC1
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| Differential effects of phosphorylation of regions of troponin I in modifying cooperative activation of cardiac thin filaments.
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| Engel PL, Hinken A, Solaro RJ.
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| J Mol Cell Cardiol 47(3):359-64. Epub 2009 May 5.PMID: 19426736 2009
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28 | CMH13, TNNC1
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| Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
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| Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ.
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| J Mol Cell Cardiol 45(2):281-8. Epub 2008 May 11.PMID: 18572189 2008
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29 | TNNC1
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| Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice.
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| Wen Y, Pinto JR, Gomes AV, Xu Y, Wang Y, Wang Y, Potter JD, Kerrick WG.
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| J Biol Chem 283(29):20484-94. Epub 2008 Apr 22.PMID: 18430738 2008
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30 | TNNC1
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| Intramolecular interactions in the N-domain of cardiac troponin C are important determinants of calcium sensitivity of force development.
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| Reece KL, Moss RL.
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| Biochemistry 47(18):5139-46. Epub 2008 Apr 15.PMID: 18410130 2008
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31 | TNNC1
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| Modulation of the rate of cardiac muscle contraction by troponin C constructs with various calcium binding affinities.
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| Norman C, Rall JA, Tikunova SB, Davis JP.
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| Am J Physiol Heart Circ Physiol 293(4):H2580-7. Epub 2007 Aug 10.PMID: 17693547 2007
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32 | TNNC1
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| Effects of thin and thick filament proteins on calcium binding and exchange with cardiac troponin C.
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| Davis JP, Norman C, Kobayashi T, Solaro RJ, Swartz DR, Tikunova SB.
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| Biophys J 92(9):3195-206. Epub 2007 Feb 9.PMID: 17293397 2007
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33 | CMH13, TNNC1
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| Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
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| Schmidtmann A, Lindow C, Villard S, Heuser A, Mugge A, Gessner R, Granier C, Jaquet K.
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| FEBS J 272(23):6087-97. 2005
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34 | CMH13, TNNC1
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| Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
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| Gomes AV, Liang J, Potter JD.
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| J Biol Chem 280(35):30909-15. Epub 2005 Jun 15.PMID: 15961398 2005
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35 | CMD1Z, TNNC1
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| Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
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| Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ.
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| J Am Coll Cardiol 44(10):2033-40.
2004
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36 | TNNC1
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| Mutations in the N- and D-helices of the N-domain of troponin C affect the C-domain and regulatory function.
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| Smith L, et al.
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| Biophys J 76(1 Pt 1):400-8. 1999
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37 | TNNC1
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| Assignment of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) between D3S3118 and GCT4B10 on the short arm of chromosome 3 by somatic cell hybrid analysis.
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| Townsend PJ, Yacoub MH, Barton PJ.
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| Ann Hum Genet 61(Pt 4):375-7. 1997
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38 | TNNC1
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| Assignment of the human slow twitch skeletal muscle/cardiac troponin C gene (TNNC1) to human chromosome 3p21.3-3p14.3 using somatic cell hybrids.
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| Song WJ, et al.
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| Cytogenet Cell Genet 75 : 36-37. 1996
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39 | TNNC1
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| Cloning, structural analysis, and expression of the human slow twitch skeletal muscle/cardiac troponin C gene.
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| Schreier T, et al.
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| J Biol Chem 265 : 21247-21253. 1990
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