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Items: 1 to 20 of 586

1.

Telomere shortening is a hallmark of genetic cardiomyopathies.

Chang ACY, Chang ACH, Kirillova A, Sasagawa K, Su W, Weber G, Lin J, Termglinchan V, Karakikes I, Seeger T, Dainis AM, Hinson JT, Seidman J, Seidman CE, Day JW, Ashley E, Wu JC, Blau HM.

Proc Natl Acad Sci U S A. 2018 Sep 11;115(37):9276-9281. doi: 10.1073/pnas.1714538115. Epub 2018 Aug 27.

2.

Mavacamten stabilizes an autoinhibited state of two-headed cardiac myosin.

Rohde JA, Roopnarine O, Thomas DD, Muretta JM.

Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):E7486-E7494. doi: 10.1073/pnas.1720342115. Epub 2018 Jul 17.

PMID:
30018063
3.

Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family.

Wang J, Guo RQ, Guo JY, Zuo L, Lei CH, Shao H, Wang LF, Zhang YM, Liu LW.

Cardiol Young. 2018 Sep;28(9):1106-1114. doi: 10.1017/S1047951118000860. Epub 2018 Jul 6.

PMID:
29978770
4.

Asn391Thr Mutation of β-Myosin Heavy Chain in a Hypertrophic Cardiomyopathy Family.

Feng X, He T, Wang JG, Zhao P.

Int Heart J. 2018 May 30;59(3):596-600. doi: 10.1536/ihj.17-250. Epub 2018 May 9.

5.

Familial Hypertrophic Cardiomyopathy - Identification of cause and risk stratification through exome sequencing.

Biswas A, Das S, Kapoor M, Shamsudheen KV, Jayarajan R, Verma A, Seth S, Bhargava B, Scaria V, Sivasubbu S, Rao VR.

Gene. 2018 Jun 20;660:151-156. doi: 10.1016/j.gene.2018.03.062. Epub 2018 Mar 21.

PMID:
29572196
6.

Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.

Abecasis J, Gouveia R, Castro M, Andrade MJ, Ribeiras R, Ramos S, Abecasis M, Cardim N, Gil V.

Cardiovasc Pathol. 2018 Mar - Apr;33:32-38. doi: 10.1016/j.carpath.2017.12.002. Epub 2018 Jan 3.

PMID:
29414430
7.

CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca2+ release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy.

Okuda S, Sufu-Shimizu Y, Kato T, Fukuda M, Nishimura S, Oda T, Kobayashi S, Yamamoto T, Morimoto S, Yano M.

Biochem Biophys Res Commun. 2018 Feb 19;496(4):1250-1256. doi: 10.1016/j.bbrc.2018.01.181. Epub 2018 Jan 31.

PMID:
29402414
8.

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Wang J, Wan K, Sun J, Li W, Liu H, Han Y, Chen Y.

Sci Rep. 2018 Jan 17;8(1):973. doi: 10.1038/s41598-018-19372-4.

9.

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.

Bick AG, Wakimoto H, Kamer KJ, Sancak Y, Goldberger O, Axelsson A, DeLaughter DM, Gorham JM, Mootha VK, Seidman JG, Seidman CE.

Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E9096-E9104. doi: 10.1073/pnas.1711303114. Epub 2017 Oct 9.

10.

Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.

Louis C, Calamaro E, Vinocur JM.

Curr Opin Cardiol. 2018 Jan;33(1):78-86. doi: 10.1097/HCO.0000000000000477. Review.

PMID:
29059074
11.

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.

Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001691. doi: 10.1161/CIRCGENETICS.116.001691.

PMID:
29018006
12.

Genome editing of human embryos: to edit or not to edit, that is the question.

Chandrasegaran S, Bullen CK, Carroll D.

J Clin Invest. 2017 Oct 2;127(10):3588-3590. doi: 10.1172/JCI96962. Epub 2017 Aug 28. Review. No abstract available.

13.

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.

Hallıoğlu Kılınç O, Giray D, Bişgin A, Tuğ Bozdoğan S, Karpuz D.

Turk Kardiyol Dern Ars. 2017 Jul;45(5):450-453. doi: 10.5543/tkda.2016.56267.

14.

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB, Bagnall RD, Ingles J, Van Tintelen JP, Semsarian C.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001671. doi: 10.1161/CIRCGENETICS.116.001671.

PMID:
28615295
15.

Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy.

Zhang X, Xie J, Zhu S, Chen Y, Wang L, Xu B.

Medicine (Baltimore). 2017 Jun;96(24):e7010. doi: 10.1097/MD.0000000000007010.

16.

Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap.

McConnell M, Tal Grinspan L, Williams MR, Lynn ML, Schwartz BA, Fass OZ, Schwartz SD, Tardiff JC.

Biochemistry. 2017 Jul 5;56(26):3403-3413. doi: 10.1021/acs.biochem.7b00266. Epub 2017 Jun 21.

17.

Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.

Stevens CM, Rayani K, Singh G, Lotfalisalmasi B, Tieleman DP, Tibbits GF.

J Biol Chem. 2017 Jul 14;292(28):11915-11926. doi: 10.1074/jbc.M116.770776. Epub 2017 May 22.

18.

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

Zhao Y, Feng Y, Ding X, Dong S, Zhang H, Ding J, Xia X.

Int J Mol Med. 2017 Jul;40(1):121-129. doi: 10.3892/ijmm.2017.2986. Epub 2017 May 11.

19.

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.

Ross SB, Fraser ST, Bagnall RD, Semsarian C.

Stem Cell Res. 2017 Apr;20:76-79. doi: 10.1016/j.scr.2017.02.016. Epub 2017 Mar 7.

20.

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.

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