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Items: 1 to 20 of 38

1.

Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.

Emrahi L, Tabrizi MT, Gharehsouran J, Ardebili SM, Estiar MA.

Clin Lab. 2016;62(5):757-64.

PMID:
27348999
2.

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y.

BMC Cardiovasc Disord. 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y.

3.

MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.

Mouton JM, van der Merwe L, Goosen A, Revera M, Brink PA, Moolman-Smook JC, Kinnear C.

Hum Genet. 2016 May;135(5):477-83. doi: 10.1007/s00439-016-1649-7.

PMID:
26969327
4.

Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.

Bongini C, Ferrantini C, Girolami F, Coppini R, Arretini A, Targetti M, Bardi S, Castelli G, Torricelli F, Cecchi F, Ackerman MJ, Padeletti L, Poggesi C, Olivotto I.

Am J Cardiol. 2016 Apr 1;117(7):1151-9. doi: 10.1016/j.amjcard.2015.12.058.

PMID:
26869393
5.

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

Milano A, Blom MT, Lodder EM, van Hoeijen DA, Barc J, Koopmann TT, Bardai A, Beekman L, Lichtner P, van den Berg MP, Wilde AA, Bezzina CR, Tan HL.

Circ Cardiovasc Genet. 2016 Apr;9(2):147-53. doi: 10.1161/CIRCGENETICS.115.001263.

PMID:
26800703
6.

Hypertrophic cardiomyopathy in man and cats.

Maron BJ, Fox PR.

J Vet Cardiol. 2015 Dec;17 Suppl 1:S6-9. doi: 10.1016/j.jvc.2015.03.007.

PMID:
26776595
7.

The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position.

Mun JY, Kensler RW, Harris SP, Craig R.

J Mol Cell Cardiol. 2016 Feb;91:141-7. doi: 10.1016/j.yjmcc.2015.12.014.

PMID:
26718724
8.

Clinically Linked Mutations in the Central Domains of Cardiac Myosin-Binding Protein C with Distinct Phenotypes Show Differential Structural Effects.

Nadvi NA, Michie KA, Kwan AH, Guss JM, Trewhella J.

Structure. 2016 Jan 5;24(1):105-15. doi: 10.1016/j.str.2015.11.001.

9.

Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation.

Lynch TL 4th, Sivaguru M, Velayutham M, Cardounel AJ, Michels M, Barefield D, Govindan S, dos Remedios C, van der Velden J, Sadayappan S.

Oxid Med Cell Longev. 2015;2015:424751. doi: 10.1155/2015/424751.

10.

Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function.

Birket MJ, Ribeiro MC, Kosmidis G, Ward D, Leitoguinho AR, van de Pol V, Dambrot C, Devalla HD, Davis RP, Mastroberardino PG, Atsma DE, Passier R, Mummery CL.

Cell Rep. 2015 Oct 27;13(4):733-45. doi: 10.1016/j.celrep.2015.09.025.

11.

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.

Zhao Y, Feng Y, Zhang YM, Ding XX, Song YZ, Zhang AM, Liu L, Zhang H, Ding JH, Xia XS.

Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361.

12.

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy.

Lopes LR, Murphy C, Syrris P, Dalageorgou C, McKenna WJ, Elliott PM, Plagnol V.

Eur J Med Genet. 2015 Nov;58(11):611-6. doi: 10.1016/j.ejmg.2015.10.001.

PMID:
26455666
13.

Normal cardiac contraction in mice lacking the proline-alanine rich region and C1 domain of cardiac myosin binding protein C.

van Dijk SJ, Witt CC, Harris SP.

J Mol Cell Cardiol. 2015 Nov;88:124-32. doi: 10.1016/j.yjmcc.2015.09.006.

14.

Heme-induced contractile dysfunction in human cardiomyocytes caused by oxidant damage to thick filament proteins.

Alvarado G, Jeney V, Tóth A, Csősz É, Kalló G, Huynh AT, Hajnal C, Kalász J, Pásztor ET, Édes I, Gram M, Akerström B, Smith A, Eaton JW, Balla G, Papp Z, Balla J.

Free Radic Biol Med. 2015 Dec;89:248-62. doi: 10.1016/j.freeradbiomed.2015.07.158.

PMID:
26409224
15.

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.

Carrier L, Mearini G, Stathopoulou K, Cuello F.

Gene. 2015 Dec 1;573(2):188-97. doi: 10.1016/j.gene.2015.09.008. Review.

PMID:
26358504
16.

The E3 ubiquitin ligase Asb2β is downregulated in a mouse model of hypertrophic cardiomyopathy and targets desmin for proteasomal degradation.

Thottakara T, Friedrich FW, Reischmann S, Braumann S, Schlossarek S, Krämer E, Juhr D, Schlüter H, van der Velden J, Münch J, Patten M, Eschenhagen T, Moog-Lutz C, Carrier L.

J Mol Cell Cardiol. 2015 Oct;87:214-24. doi: 10.1016/j.yjmcc.2015.08.020.

PMID:
26343497
17.

The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.

Jørgenrud B, Jalanko M, Heliö T, Jääskeläinen P, Laine M, Hilvo M, Nieminen MS, Laakso M, Hyötyläinen T, Orešič M, Kuusisto J.

PLoS One. 2015 Aug 12;10(8):e0134184. doi: 10.1371/journal.pone.0134184.

18.

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.

Kadota C, Arimura T, Hayashi T, Naruse TK, Kawai S, Kimura A.

J Hum Genet. 2015 Oct;60(10):641-5. doi: 10.1038/jhg.2015.81.

PMID:
26178432
19.

Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X.

J Am Heart Assoc. 2015 Jul 10;4(7). pii: e001879. doi: 10.1161/JAHA.115.001879.

20.

Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis.

Jiang J, Burgon PG, Wakimoto H, Onoue K, Gorham JM, O'Meara CC, Fomovsky G, McConnell BK, Lee RT, Seidman JG, Seidman CE.

Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):9046-51. doi: 10.1073/pnas.1511004112.

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