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