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Items: 1 to 20 of 253

1.

[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy].

Wang B, Guo R, Zuo L, Shao H, Liu Y, Wang Y, Ju Y, Sun C, Wang L, Zhang Y, Liu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):514-518. doi: 10.3760/cma.j.issn.1003-9406.2017.04.010. Chinese.

PMID:
28777849
2.

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.

Song JS, Kang JS, Kim YE, Park SJ, Park KM, Huh J, Kim JS, Cho H, Ki CS, On YK.

J Hum Genet. 2017 Jun;62(6):615-620. doi: 10.1038/jhg.2017.8. Epub 2017 Feb 16.

PMID:
28202948
3.

Early-Onset Hypertrophic Cardiomyopathy Mutations Significantly Increase the Velocity, Force, and Actin-Activated ATPase Activity of Human β-Cardiac Myosin.

Adhikari AS, Kooiker KB, Sarkar SS, Liu C, Bernstein D, Spudich JA, Ruppel KM.

Cell Rep. 2016 Dec 13;17(11):2857-2864. doi: 10.1016/j.celrep.2016.11.040.

4.

A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy.

Gawor M, Bilińska ZT, Franaszczyk M, Michalak E, Rafał P, Grzybowski J.

Minerva Cardioangiol. 2017 Feb;65(1):96-102. doi: 10.23736/S0026-4725.16.04208-0. No abstract available.

PMID:
27910300
5.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS.

BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1.

6.

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6701-6. doi: 10.1073/pnas.1606950113. Epub 2016 May 31.

7.

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Zhao P, Cui HL, He TT, Wang JG, Wang D, Feng XX, Zou YB, Wang YL, Wang JZ, Hui RT, Song L.

Cardiol Young. 2017 Apr;27(3):467-472. doi: 10.1017/S1047951116000731. Epub 2016 May 10.

PMID:
27161882
8.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.

Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM.

BMC Med Genet. 2016 Mar 22;17:25. doi: 10.1186/s12881-016-0288-0.

9.

Harmonic force spectroscopy measures load-dependent kinetics of individual human β-cardiac myosin molecules.

Sung J, Nag S, Mortensen KI, Vestergaard CL, Sutton S, Ruppel K, Flyvbjerg H, Spudich JA.

Nat Commun. 2015 Aug 4;6:7931. doi: 10.1038/ncomms8931.

10.

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L.

Heart. 2015 Jul;101(13):1047-53. doi: 10.1136/heartjnl-2014-307205. Epub 2015 May 2.

11.

Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.

Naddaf E, Waclawik AJ.

J Clin Neuromuscul Dis. 2015 Mar;16(3):164-9. doi: 10.1097/CND.0000000000000069.

PMID:
25695922
12.

A rare mutation in MYH7 gene occurs with overlapping phenotype.

Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L.

Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7.

PMID:
25576864
13.

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.

Yang J, Zhu M, Wang Y, Hou X, Wu H, Wang D, Shen H, Hu Z, Zou J.

Gene. 2015 Mar 1;558(1):138-42. doi: 10.1016/j.gene.2014.12.061. Epub 2014 Dec 27.

PMID:
25550050
14.

A novel MYH7 gene mutation in a fetus with left ventricular noncompaction.

Nomura Y, Momoi N, Hirono K, Hata Y, Takasaki A, Nishida N, Ichida F.

Can J Cardiol. 2015 Jan;31(1):103.e1-3. doi: 10.1016/j.cjca.2014.11.012. Epub 2014 Nov 15.

PMID:
25547560
15.

Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation.

Hirono K, Hata Y, Ibuki K, Yoshimura N.

J Thorac Cardiovasc Surg. 2014 Nov;148(5):e223-6. doi: 10.1016/j.jtcvs.2014.08.049. Epub 2014 Sep 6. No abstract available.

16.

A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.

Yu BL, Xiang R, Hu D, Peng DQ.

Eur Heart J. 2015 Jan 14;36(3):178. doi: 10.1093/eurheartj/ehu435. Epub 2014 Nov 24. No abstract available.

PMID:
25422285
17.

Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.

Guo Q, Xu Y, Wang X, Guo Y, Xu R, Sun K, Chen S.

DNA Cell Biol. 2014 Oct;33(10):699-704. doi: 10.1089/dna.2014.2483. Epub 2014 Jun 25.

18.

Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.

Witjas-Paalberends ER, Ferrara C, Scellini B, Piroddi N, Montag J, Tesi C, Stienen GJ, Michels M, Ho CY, Kraft T, Poggesi C, van der Velden J.

J Physiol. 2014 Aug 1;592(15):3257-72. doi: 10.1113/jphysiol.2014.274571. Epub 2014 Jun 13.

19.

A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Kärkkäinen S, Peuhkurinen K, Nieminen MS, Laakso M; FinHCM Study Group, Kuusisto J.

Ann Med. 2014 Sep;46(6):424-9. doi: 10.3109/07853890.2014.912834. Epub 2014 Jun 3.

PMID:
24888384
20.

Sex differences in myosin heavy chain isoforms of human failing and nonfailing atria.

Reiser PJ, Moravec CS.

Am J Physiol Heart Circ Physiol. 2014 Aug 1;307(3):H265-72. doi: 10.1152/ajpheart.00810.2013. Epub 2014 May 30.

PMID:
24878771

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