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Items: 1 to 20 of 191

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.

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. Epub 2015 Sep 8. Review.

PMID:
26358504
3.

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.

4.

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

Liu X, Jiang T, Piao C, Li X, Guo J, Zheng S, Zhang X, Cai T, Du J.

Sci Rep. 2015 Jun 19;5:11411. doi: 10.1038/srep11411.

5.

An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.

Gajendrarao P, Krishnamoorthy N, Selvaraj S, Girolami F, Cecchi F, Olivotto I, Yacoub M.

J Cardiovasc Transl Res. 2015 Jun;8(4):232-43. doi: 10.1007/s12265-015-9624-6. Epub 2015 May 14.

PMID:
25971843
6.

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P.

J Med Genet. 2015 May;52(5):338-47. doi: 10.1136/jmedgenet-2014-102923. Epub 2015 Mar 4.

PMID:
25740977
7.

Cardiac MyBP-C regulates the rate and force of contraction in mammalian myocardium.

Moss RL, Fitzsimons DP, Ralphe JC.

Circ Res. 2015 Jan 2;116(1):183-92. doi: 10.1161/CIRCRESAHA.116.300561. Review.

8.

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D.

Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22.

9.

Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

Terauchi Y, Kubo T, Baba Y, Hirota T, Tanioka K, Yamasaki N, Furuno T, Kitaoka H.

J Cardiol. 2015 May;65(5):423-8. doi: 10.1016/j.jjcc.2014.07.010. Epub 2014 Aug 7.

10.

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, Stefansson K, DePalma SR, Mazaika E, McDonough B, Danielsen R, Seidman JG, Seidman CE, Gunnarsson GT.

Circulation. 2014 Sep 30;130(14):1158-67. doi: 10.1161/CIRCULATIONAHA.114.011207. Epub 2014 Jul 30.

11.

Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.

Zhang XL, De S, McIntosh LP, Paetzel M.

Biochemistry. 2014 Aug 19;53(32):5332-42. doi: 10.1021/bi500784g. Epub 2014 Aug 7.

PMID:
25058872
12.

Myocardial infarction-induced N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium.

Witayavanitkul N, Ait Mou Y, Kuster DW, Khairallah RJ, Sarkey J, Govindan S, Chen X, Ge Y, Rajan S, Wieczorek DF, Irving T, Westfall MV, de Tombe PP, Sadayappan S.

J Biol Chem. 2014 Mar 28;289(13):8818-27. doi: 10.1074/jbc.M113.541128. Epub 2014 Feb 7.

13.

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.

Behrens-Gawlik V, Mearini G, Gedicke-Hornung C, Richard P, Carrier L.

Pflugers Arch. 2014 Feb;466(2):215-23. doi: 10.1007/s00424-013-1409-7. Epub 2013 Dec 12. Review.

PMID:
24337823
14.

Release kinetics of circulating cardiac myosin binding protein-C following cardiac injury.

Kuster DW, Cardenas-Ospina A, Miller L, Liebetrau C, Troidl C, Nef HM, Möllmann H, Hamm CW, Pieper KS, Mahaffey KW, Kleiman NS, Stuyvers BD, Marian AJ, Sadayappan S.

Am J Physiol Heart Circ Physiol. 2014 Feb 15;306(4):H547-56. doi: 10.1152/ajpheart.00846.2013. Epub 2013 Dec 13.

15.

MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation.

Kuster DW, Sadayappan S.

Pflugers Arch. 2014 Feb;466(2):207-13. doi: 10.1007/s00424-013-1417-7. Epub 2013 Dec 11. Review.

16.

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships.

Sequeira V, Witjas-Paalberends ER, Kuster DW, van der Velden J.

Pflugers Arch. 2014 Feb;466(2):201-6. doi: 10.1007/s00424-013-1400-3. Epub 2013 Nov 17. Review.

PMID:
24240729
17.

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

van Dijk SJ, Boontje NM, Heymans MW, Ten Cate FJ, Michels M, Dos Remedios C, Dooijes D, van Slegtenhorst MA, van der Velden J, Stienen GJ.

Pflugers Arch. 2014 Aug;466(8):1619-33. doi: 10.1007/s00424-013-1391-0. Epub 2013 Nov 2.

PMID:
24186209
18.

MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations.

Kuster DW, Mulders J, Ten Cate FJ, Michels M, Dos Remedios CG, da Costa Martins PA, van der Velden J, Oudejans CB.

J Mol Cell Cardiol. 2013 Dec;65:59-66. doi: 10.1016/j.yjmcc.2013.09.012. Epub 2013 Sep 29.

PMID:
24083979
19.

E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.

De Lange WJ, Grimes AC, Hegge LF, Spring AM, Brost TM, Ralphe JC.

J Gen Physiol. 2013 Sep;142(3):241-55. doi: 10.1085/jgp.201311018.

20.

The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).

Reguero JR, Gómez J, Martín M, Flórez JP, Morís C, Iglesias S, Alonso B, Alvarez V, Coto E.

Int J Cardiol. 2013 Oct 9;168(4):4555-6. doi: 10.1016/j.ijcard.2013.06.085. Epub 2013 Jul 17. No abstract available.

PMID:
23870641

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