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Items: 1 to 20 of 272

1.

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.

Adhikari AS, Trivedi DV, Sarkar SS, Song D, Kooiker KB, Bernstein D, Spudich JA, Ruppel KM.

Nat Commun. 2019 Jun 18;10(1):2685. doi: 10.1038/s41467-019-10555-9.

2.

Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy.

Lee SP, Ashley EA, Homburger J, Caleshu C, Green EM, Jacoby D, Colan SD, Arteaga-Fernández E, Day SM, Girolami F, Olivotto I, Michels M, Ho CY, Perez MV; SHaRe Investigators.

Circ Heart Fail. 2018 Sep;11(9):e005191. doi: 10.1161/CIRCHEARTFAILURE.118.005191.

PMID:
30354366
3.

[Analysis of genotype-phenotype correlation for a novel MYH7-D554Y mutation identified in an ethnic Han Chinese pedigree affected with hypertrophic cardiomyopathy].

Yang Q, Wang B, Wang J, Sun C, Ma Z, Zuo L, Zhang Y, Liu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):667-671. doi: 10.3760/cma.j.issn.1003-9406.2018.05.010. Chinese.

PMID:
30298491
4.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C.

Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26.

PMID:
30166250
5.

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.

6.

Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.

Ujfalusi Z, Vera CD, Mijailovich SM, Svicevic M, Yu EC, Kawana M, Ruppel KM, Spudich JA, Geeves MA, Leinwand LA.

J Biol Chem. 2018 Jun 8;293(23):9017-9029. doi: 10.1074/jbc.RA118.001938. Epub 2018 Apr 17.

7.

A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.

Parker F, Batchelor M, Wolny M, Hughes R, Knight PJ, Peckham M.

J Mol Biol. 2018 May 11;430(10):1459-1478. doi: 10.1016/j.jmb.2018.04.006. Epub 2018 Apr 14.

8.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
9.

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.

10.

MYH7 Rare Variant in a Family With Double-Chambered Left Ventricle.

Wang J, Zhang X, Wang X, Wang C, Wang F, Wang B.

Circ Cardiovasc Genet. 2017 Dec;10(6). pii: e001729. doi: 10.1161/CIRCGENETICS.117.001729. No abstract available.

PMID:
29237678
11.

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Montag J, Syring M, Rose J, Weber AL, Ernstberger P, Mayer AK, Becker E, Keyser B, Dos Remedios C, Perrot A, van der Velden J, Francino A, Navarro-Lopez F, Ho CY, Brenner B, Kraft T.

J Muscle Res Cell Motil. 2017 Aug;38(3-4):291-302. doi: 10.1007/s10974-017-9486-4. Epub 2017 Nov 3.

12.

[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
13.

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.

14.

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
15.

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.

16.

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.

17.

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
18.

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.

19.

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.

20.

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.

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