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Items: 1 to 20 of 515

1.

Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

Sommese RF, Sung J, Nag S, Sutton S, Deacon JC, Choe E, Leinwand LA, Ruppel K, Spudich JA.

Proc Natl Acad Sci U S A. 2013 Jul 30;110(31):12607-12. doi: 10.1073/pnas.1309493110. Epub 2013 Jun 24.

2.

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.

Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO.

Neuromuscul Disord. 2013 Jul;23(7):580-6. doi: 10.1016/j.nmd.2013.04.003. Epub 2013 May 24.

PMID:
23707328
3.

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J.

Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13.

PMID:
23674513
4.

Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.

Kumar A, Rajendran V, Sethumadhavan R, Purohit R.

Gene. 2013 Apr 25;519(1):34-40. doi: 10.1016/j.gene.2013.01.056. Epub 2013 Feb 9.

PMID:
23403236
5.

Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.

Kraft T, Witjas-Paalberends ER, Boontje NM, Tripathi S, Brandis A, Montag J, Hodgkinson JL, Francino A, Navarro-Lopez F, Brenner B, Stienen GJ, van der Velden J.

J Mol Cell Cardiol. 2013 Apr;57:13-22. doi: 10.1016/j.yjmcc.2013.01.001. Epub 2013 Jan 11.

6.

Length-dependent effects on cardiac contractile dynamics are different in cardiac muscle containing α- or β-myosin heavy chain.

Ford SJ, Chandra M.

Arch Biochem Biophys. 2013 Jul 1;535(1):3-13. doi: 10.1016/j.abb.2012.10.011. Epub 2012 Oct 27.

7.

Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy.

Hoedemaekers YM, Cohen-Overbeek TE, Frohn-Mulder IM, Dooijes D, Majoor-Krakauer DF.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):336-9. doi: 10.1002/uog.12279.

8.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.

Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
9.

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

Coto E, Reguero JR, Palacín M, Gómez J, Alonso B, Iglesias S, Martín M, Tavira B, Díaz-Molina B, Morales C, Morís C, Rodríguez-Lambert JL, Corao AI, Díaz M, Alvarez V.

J Mol Diagn. 2012 Sep;14(5):518-24. doi: 10.1016/j.jmoldx.2012.04.001. Epub 2012 Jul 2.

PMID:
22765922
10.

Induction of myocardial infarction in adult zebrafish using cryoinjury.

Chablais F, Jaźwińska A.

J Vis Exp. 2012 Apr 18;(62). pii: 3666. doi: 10.3791/3666.

11.

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.

Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

PMID:
22521714
12.

[Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families].

Fan XP, Yang ZW, Feng XL, Yang FH, Xiao B, Liang Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):387-92. doi: 10.3760/cma.j.issn.1003-9406.2011.04.006. Chinese.

PMID:
21811976
13.

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

Tripathi S, Schultz I, Becker E, Montag J, Borchert B, Francino A, Navarro-Lopez F, Perrot A, Özcelik C, Osterziel KJ, McKenna WJ, Brenner B, Kraft T.

Basic Res Cardiol. 2011 Nov;106(6):1041-55. doi: 10.1007/s00395-011-0205-9. Epub 2011 Jul 19.

14.

[Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy].

Feng XL, Fan XP, Yang ZW, Yang FH.

Zhonghua Xin Xue Guan Bing Za Zhi. 2011 Feb;39(2):110-3. Chinese.

PMID:
21426742
15.

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán JM, Udd B, Vílchez JJ.

Clin Genet. 2012 May;81(5):491-4. doi: 10.1111/j.1399-0004.2011.01667.x. Epub 2011 Apr 11.

PMID:
21395566
16.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ.

Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
17.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B.

J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30.

PMID:
21279644
18.

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S.

Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2.

19.

Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.

Tanjore R, Rangaraju A, Vadapalli S, Remersu S, Narsimhan C, Nallari P.

Indian J Hum Genet. 2010 May;16(2):67-71. doi: 10.4103/0971-6866.69348.

20.

Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.

Zheng DD, Yang JH, Tao Q, Geng M, Lin J, Yang XJ, Song JP, Li HX, Han LH, Jiang WP.

J Int Med Res. 2010 May-Jun;38(3):810-20.

PMID:
20819418

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