Citations for
1MMS, MYH7
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
Dahl-Halvarsson M, Pokrzywa M, Rauthan M, Pilon M, Tajsharghi H.
PLoS One 12(1):e0170613. doi: 10.1371/journal.pone.0170613. eCollection 2017. 2017
2CMD1S, MYH7
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 17(11):2857-2864. doi: 10.1016/j.celrep.2016.11.040. 2016
3MYH7
Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly.
Taylor KC, Buvoli M, Korkmaz EN, Buvoli A, Zheng Y, Heinze NT, Cui Q, Leinwand LA, Rayment I.
Proc Natl Acad Sci U S A 112(29):E3806-15. doi: 10.1073/pnas.1505813112. Epub 2015 Jul 6. 2015
4MPD1, MYH7
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.
Naddaf E, Waclawik AJ.
J Clin Neuromuscul Dis 16(3):164-9. doi: 10.1097/CND.0000000000000069. 2015
5FOXO1, MYH7
Activation of Foxo1 by insulin resistance promotes cardiac dysfunction and β-myosin heavy chain gene expression.
Qi Y, Zhu Q, Zhang K, Thomas C, Wu Y, Kumar R, Baker KM, Xu Z, Chen S, Guo S.
Circ Heart Fail 8(1):198-208. doi: 10.1161/CIRCHEARTFAILURE.114.001457. Epub 2014 Dec 4. 2015
6MYH7
Essential role of TEA domain transcription factors in the negative regulation of the MYH 7 gene by thyroid hormone and its receptors.
Iwaki H, Sasaki S, Matsushita A, Ohba K, Matsunaga H, Misawa H, Oki Y, Ishizuka K, Nakamura H, Suda T.
PLoS One 9(4):e88610. doi: 10.1371/journal.pone.0088610. eCollection 2014. Erratum in: PLoS One. 2014;9(8):e106385. 2014
7MYBPC3, MYH6, MYH7
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
Merlo M, Sinagra G, Carniel E, Slavov D, Zhu X, Barbati G, Spezzacatene A, Ramani F, Salcedo E, Di Lenarda A, Mestroni L, Taylor MR; Familial Cardiomyopathy Registry.
Clin Transl Sci 6(6):424-8. doi: 10.1111/cts.12116. Epub 2013 Oct 3. 2013
8ANXA2, DES, IGFBP7, MYH7
Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure.
Chugh S, Ouzounian M, Lu Z, Mohamed S, Li W, Bousette N, Liu PP, Gramolini AO.
Proteomics 13(15):2324-34. doi: 10.1002/pmic.201200455. Epub 2013 Jul 1. 2013
9MKX, MYH7, SOX6
Characterization of the DNA-binding properties of the Mohawk homeobox transcription factor.
Anderson DM, George R, Noyes MB, Rowton M, Liu W, Jiang R, Wolfe SA, Wilson-Rawls J, Rawls A.
J Biol Chem 287(42):35351-9. doi: 10.1074/jbc.M112.399386. Epub 2012 Aug 24. 2012
10MYH6, MYH7, MYH7B
Cardiac myosin activation: a potential therapeutic approach for systolic heart failure.
Malik FI, Hartman JJ, Elias KA, Morgan BP, Rodriguez H, Brejc K, Anderson RL, Sueoka SH, Lee KH, Finer JT, Sakowicz R, Baliga R, Cox DR, Garard M, Godinez G, Kawas R, Kraynack E, Lenzi D, Lu PP, Muci A, Niu C, Qian X, Pierce DW, Pokrovskii M, Suehiro I, Sylvester S, Tochimoto T, Valdez C, Wang W, Katori T, Kass DA, Shen YT, Vatner SF, Morgans DJ.
Science 331(6023):1439-43. 2011
11MPD1, MYH7
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.
Neuromuscul Disord 21(3):219-22. Epub 2011 Jan 5. 2011
12MMS, MYH7
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 21(4):254-62. Epub 2011 Feb 1. 2011
13MYH7
Cardiac myosin heavy chain gene regulation by thyroid hormone involves altered histone modifications.
Haddad F, Jiang W, Bodell PW, Qin AX, Baldwin KM.
Am J Physiol Heart Circ Physiol 299(6):H1968-80. doi: 10.1152/ajpheart.00644.2010. Epub 2010 Sep 10. 2010
14CMD1S, MYH7
A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.
Armel TZ, Leinwand LA.
Biochem Biophys Res Commun 391(1):352-6. doi: 10.1016/j.bbrc.2009.11.062. Epub 2009 Nov 12. 2010
15MMS, MYH7
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.
Armel TZ, Leinwand LA.
Proc Natl Acad Sci U S A 106(15):6291-6. Epub 2009 Mar 31. 2009
16MYBPC3, MYH7, TNNT2
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L.
Eur J Hum Genet 17(10):1241-9. Epub 2009 Mar 18.PMID: 19293840 2009
17ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW, Willems PJ.
Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
18ACTC1, CMH1, CMH11, CMH4, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
19FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
Thick filament diseases.
Oldfors A, Lamont PJ.
Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
20CMD1S, MYH7
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T.
PLoS ONE 2(12):e1362. 2007
21MMS, MYH7
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
Tajsharghi H, Oldfors A, Macleod DP, Swash M.
Neurology 68(12):962. No abstract available. 2007
22MMS, MYH7
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C.
Neuromuscul Disord 17(4):321-9. Epub 2007 Mar 2. 2007
23CMH1, MMS, MPD1, MYH7
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.
Neuromuscul Disord 17(6):490-3. Epub 2007 Mar 23. 2007
24MYH2, MYH3, MYH7, MYH8
Hereditary myosin myopathies.
Oldfors A.
Neuromuscul Disord 17(5):355-67. Epub 2007 Apr 16. Review.PMID: 17434305 2007
25MYH7, CMH1
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.
Tanjore RR, Sikindlapuram AD, Calambur N, Thakkar B, Kerkar PG, Nallari P.
Clin Genet 69(5):434-6. No abstract available. 2006
26MYH7, MMS
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
Dye DE, Azzarelli B, Goebel HH, Laing NG.
Neuromuscul Disord 16(6):357-60. Epub 2006 May 8. 2006
27MYH7
Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment.
Blankenfeldt W, Thomä NH, Wray JS, Gautel M, Schlichting I.
Proc Natl Acad Sci U S A 103(47):17713-7. Epub 2006 Nov 9. 2006
28MPD1, MYH7
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, De Visser M, Van Der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.
Am J Hum Genet 75(4):703-8. Epub 2004 Aug 20. 2004
29MYH7, MMS
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF.
Neurology 62(9):1518-21. 2004
30CMH1, CMH4, MYH7, MYBPC3
Hypertrophic cardiomyopathy: two homozygous cases with typical hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G.
Biochem Biophys Res Commun 309(2):391-8. 2003
31MYH7, MMS
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.
Ann Neurol 54(4):494-500. 2003
32MYH7
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H.
Circ Res 90(3):263-9. 2002
33TPM1, TNNT2, MYBPC3, MYH7
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V.
Biochem Biophys Res Commun 298(1):116-20. 2002
34MYH7
Low Sequence Variation in the Gene Encoding the Human beta-Myosin Heavy Chain.
Freeman K, Nakao K, Leinwand LA.
Genomics 76(1-3):73-80. 2001
35CMH1, MYH7
First description of germline mosaicism in familial hypertrophic cardiomyopathy.
Forissier JF, Richard P, Briault S, Ledeuil C, Dubourg O, Charbonnier B, Carrier L, Moraine C, Bonne G, Komajda M, Schwartz K, Hainque B.
J Med Genet 37(2):132-134 2000
36MYH7, CMH1, CMH4, MYBPC3
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
Richard P, et al.
J Med Genet 36(7):542-5. 1999
37CMH1, EHK2, KRT10, MYH7
Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.
Bundgaard H, et al.
J Mol Cell Cardiol 31(4):745-50. 1999
38CMH1, MYH7
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.
Jeschke B, et al.
Hum Genet 102 : 299-304. 1998
39MYH7
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautie N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M.
Hum Mutat 12 : 385-392. 1998
40CMH1, MYH7
Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.
Hwang TH, et al.
Am J Cardiol 82 : 1509-1513. 1998
41CMH1, MYH7
Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly : an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly.
Becker KD, et al.
J Cell Biol 137 : 131-140. 1997
42CMH1, MYH7
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-Cys mutation in the beta-myosin heavy chain gene : coexistence of sudden death and end-stage heart failure.
Ko YL, et al.
Hum Genet 97 : 585-590. 1996
43CMH1, MYH7
Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.
Kuang SQ, et al.
J Mol Cell Cardiol 28 : 1879-1883. 1996
44CMH1, MYH7
Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.
Sata M, et al.
J Clin Invest 98 : 2866-2873. 1996
45CMH1, MYH7
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
Nishi H, et al.
Circulation 91 : 2911-2915. 1995
46MYH7, CMH1
A novel deletion mutation in the beta-myosin heavy chain gene found in Japanese patients with hypertrophic cardiomyopathy.
Nakajima-Taniguchi C, et al.
J Mol Cell Cardiol 27 : 2607-2612. 1995
47MYH7
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
Lankford EB, et al.
J Clin Invest 95 : 1409-1414. 1995
48CMH1, MYH7
Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
Moolman JC, et al.
Hum Mutat 6 : 197-198. 1995
49MYH7
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
Arai S, et al.
Am J Med Genet 58 : 267-276. 1995
50CMH1, MYH7
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Anan R, et al.
J Clin Invest 93 : 280-285. 1994
51MYH7, CMH1
Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy.
Straceski AJ, et al.
Proc Natl Acad Sci U S A 91 : 589-593. 1994
52CMH1, MYH7
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
Consevage MW, et al.
Hum Mol Genet 3 : 1025-1026. 1994
53MYH7, CMH1
Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.
Nishi H, et al.
Biochem Biophys Res Commun 200 : 549-556. 1994
54CMH1, MYH7
Isolation of a De novo mutant myocardial betaMHC protein in a pedigree with hypertrophic cardiomyopathy.
Greve G, et al.
Hum Mol Genet 3 : 2073-2075. 1994
55MYH7, CMH1
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
Dausse E, et al.
J Clin Invest 92 : 2807-2813. 1993
56CMH1, MYH7
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins H, et al.
Am J Hum Genet 53 : 1180-1185. 1993
57CMH1, MYH7
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
Cuda G, et al.
J Clin Invest 91 : 2861-2865. 1993
58CMH1, MYH7
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.
Al-Mahdawi S, et al.
Br Heart J 69 : 136-141. 1993
59MYH7, CMH1
A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.
Harada H, et al.
Biochem Biophys Res Commun 194 : 791-798. 1993
60CMH1, MYH7
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
Moolman JC, et al.
Hum Mol Genet 2 : 1731-1732. 1993
61MYH7
Dinucleotide repeat polymorphism at the human cardiac beta-myosin heavy chain gene (HMSYHCO1) locus.
Warlick CA, et al.
Hum Mol Genet 1 : 136. 1992
62MYH7, CMH1
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins H, et al.
J Clin Invest 90 : 1666-1671. 1992
63CMH1, MYH7
Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
Nishi H, et al.
Biochem Biophys Res Commun 188 : 379-387. 1992
64CMH1, MYH7
Hypertrophic cardiomyopathy failure to demonstrate mutations in exon 13 of the cardiac beta myosin heavy-chain gene.
Friedman E, et al.
Basic Res Cardiol 87 : 106-112. 1992
65CMH1, MYH7
Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.
Perryman MB, et al.
J Clin Invest 90 : 271-277. 1992
66HBE1, MYH7, SERPINA1
Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci.
Rogaev EI, et al.
Hum Mol Genet 1 : 285. 1992
67MYH7
Dinucleotide repeat polymorphism at the human cardiac beta-myosin gene.
Polymeropoulos MH, et al.
Nucleic Acids Res 19 : 4019. 1991
68MYH6, MYH7
Molecular cloning and chromosomal localization of a gene coding for human cardiac myosin heavy-chain.
Matsuoka R, et al.
Jpn Circ J 54 : 1206-1213. 1990
69MYH7
A polymorphism of the MYH7 gene.
Siewertsen MA, et al.
Nucleic Acids Res 18 : 6173. 1990
70MYH7
Localization of human cardiac beta-myosin heavy chain (MYH7) to chromosome 14q12 by in situ hybridization.
Qin H, et al.
Cytogenet Cell Genet 54 : 74-76. 1990
71MYH6, MYH7
Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2-q13.
Matsuoka R, et al.
Am J Med Genet 32 : 279-284. 1989
72MYH6, MYH7
Human cardiac myosin heavy chain genes and their linkage in the genome.
Saez LJ, et al.
Nucleic Acids Res 15 : 5443-5459. 1987