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Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.

Guo X, Fan C, Wang Y, Wang M, Cai C, Yang Y, Zhao S, Duan F, Li Y.

Medicine (Baltimore). 2017 Mar;96(11):e6249. doi: 10.1097/MD.0000000000006249.


Mechanotransduction and Metabolism in Cardiomyocyte Microdomains.

Pasqualini FS, Nesmith AP, Horton RE, Sheehy SP, Parker KK.

Biomed Res Int. 2016;2016:4081638. doi: 10.1155/2016/4081638. Epub 2016 Dec 4. Review.


Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N, Ahlberg G, Ghouse J, Andreasen C, Svendsen JH, Haunsø S, Bundgaard H, Weeke PE, Olesen MS.

Mol Genet Genomic Med. 2016 Sep 17;4(6):617-623. eCollection 2016 Nov.


Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.

Hernandez DA, Bennett CM, Dunina-Barkovskaya L, Wedig T, Capetanaki Y, Herrmann H, Conover GM.

Mol Biol Cell. 2016 Dec 1;27(24):3869-3882. Epub 2016 Oct 12.


Elucidation of transcriptome-wide microRNA binding sites in human cardiac tissues by Ago2 HITS-CLIP.

Spengler RM, Zhang X, Cheng C, McLendon JM, Skeie JM, Johnson FL, Davidson BL, Boudreau RL.

Nucleic Acids Res. 2016 Sep 6;44(15):7120-31. doi: 10.1093/nar/gkw640. Epub 2016 Jul 14.


Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Perrot A, Tomasov P, Villard E, Faludi R, Melacini P, Lossie J, Lohmann N, Richard P, De Bortoli M, Angelini A, Varga-Szemes A, Sperling SR, Simor T, Veselka J, Özcelik C, Charron P.

Arch Med Sci. 2016 Apr 1;12(2):263-78. doi: 10.5114/aoms.2016.59250. Epub 2016 Apr 11.


Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.

Kuo HC, Li SC, Guo MM, Huang YH, Yu HR, Huang FC, Jiao F, Kuo HC, Andrade J, Chan WC.

PLoS One. 2016 May 12;11(5):e0154943. doi: 10.1371/journal.pone.0154943. eCollection 2016.


Mitigation of Variability among 3D Echocardiography-Derived Regional Strain Values Acquired by Multiple Ultrasound Systems by Vendor Independent Analysis.

Streiff C, Zhu M, Shimada E, Sahn DJ, Ashraf M.

PLoS One. 2016 May 5;11(5):e0153634. doi: 10.1371/journal.pone.0153634. eCollection 2016.


Does Nebulin Make Tropomyosin Less Dynamic in Mature Myofibrils in Cross-Striated Myocytes?

Dube DK, Wang J, Fan Y, Sanger JM, Sanger JW.

J Cytol Histol. 2014 Jul;5(4). pii: 239. Epub 2014 Apr 25.


Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality.

Pappas CT, Mayfield RM, Henderson C, Jamilpour N, Cover C, Hernandez Z, Hutchinson KR, Chu M, Nam KH, Valdez JM, Wong PK, Granzier HL, Gregorio CC.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13573-8. doi: 10.1073/pnas.1508273112. Epub 2015 Oct 20.


Genetics of Human and Canine Dilated Cardiomyopathy.

Simpson S, Edwards J, Ferguson-Mignan TF, Cobb M, Mongan NP, Rutland CS.

Int J Genomics. 2015;2015:204823. doi: 10.1155/2015/204823. Epub 2015 Jul 22. Review.


Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level.

Abascal F, Ezkurdia I, Rodriguez-Rivas J, Rodriguez JM, del Pozo A, Vázquez J, Valencia A, Tress ML.

PLoS Comput Biol. 2015 Jun 10;11(6):e1004325. doi: 10.1371/journal.pcbi.1004325. eCollection 2015 Jun.


Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.

Mastrototaro G, Liang X, Li X, Carullo P, Piroddi N, Tesi C, Gu Y, Dalton ND, Peterson KL, Poggesi C, Sheikh F, Chen J, Bang ML.

Cardiovasc Res. 2015 Jul 15;107(2):216-25. doi: 10.1093/cvr/cvv156. Epub 2015 May 17.


Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.

Xu X, Friehs I, Zhong Hu T, Melnychenko I, Tampe B, Alnour F, Iascone M, Kalluri R, Zeisberg M, Del Nido PJ, Zeisberg EM.

Circ Res. 2015 Feb 27;116(5):857-66. doi: 10.1161/CIRCRESAHA.116.305629. Epub 2015 Jan 13.


The Src homology and collagen A (ShcA) adaptor protein is required for the spatial organization of the costamere/Z-disk network during heart development.

Mlih M, Host L, Martin S, Niederhoffer N, Monassier L, Terrand J, Messaddeq N, Radke M, Gotthardt M, Bruban V, Kober F, Bernard M, Canet-Soulas E, Abt-Jijon F, Boucher P, Matz RL.

J Biol Chem. 2015 Jan 23;290(4):2419-30. doi: 10.1074/jbc.M114.597377. Epub 2014 Dec 8.


Inherited cardiomyopathies.

Towbin JA.

Circ J. 2014;78(10):2347-56. Epub 2014 Sep 2. Review.


Mammalian target of rapamycin (mTOR) inhibition with rapamycin improves cardiac function in type 2 diabetic mice: potential role of attenuated oxidative stress and altered contractile protein expression.

Das A, Durrant D, Koka S, Salloum FN, Xi L, Kukreja RC.

J Biol Chem. 2014 Feb 14;289(7):4145-60. doi: 10.1074/jbc.M113.521062. Epub 2013 Dec 26.


Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.

Eulitz S, Sauer F, Pelissier MC, Boisguerin P, Molt S, Schuld J, Orfanos Z, Kley RA, Volkmer R, Wilmanns M, Kirfel G, van der Ven PF, Fürst DO.

Mol Biol Cell. 2013 Oct;24(20):3215-26. doi: 10.1091/mbc.E13-04-0202. Epub 2013 Aug 28.


Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.

Maiellaro-Rafferty K, Wansapura JP, Mendsaikhan U, Osinska H, James JF, Taylor MD, Robbins J, Kranias EG, Towbin JA, Purevjav E.

J Mol Cell Cardiol. 2013 Jul;60:151-60. doi: 10.1016/j.yjmcc.2013.04.021. Epub 2013 Apr 28.


Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S; German Competence Network Heart Failure..

Eur J Hum Genet. 2013 Mar;21(3):294-300. doi: 10.1038/ejhg.2012.173. Epub 2012 Aug 15.

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