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Select item 56659401.

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

Petr G. Vikhorev, Natalia Smoktunowicz, Alex B. Munster, O’Neal Copeland, Sawa Kostin, Cecile Montgiraud, Andrew E. Messer, Mohammad R. Toliat, Amy Li, Cristobal G. dos Remedios, Sean Lal, Cheavar A. Blair, Kenneth S. Campbell, Maya Guglin, Manfred Richter, Ralph Knöll, Steven B. Marston

Sci Rep. 2017; 7: 14829. Published online 2017 Nov 1. doi: 10.1038/s41598-017-13675-8

Correction in:: Sci Rep. 2018; 8: 14485.

PMCID:: PMC5665940

Article PDF–4.8M

Select item 47844352.

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

Eric M. Green, Hiroko Wakimoto, Robert L. Anderson, Marc J. Evanchik, Joshua M. Gorham, Brooke C. Harrison, Marcus Henze, Raja Kawas, Johan D. Oslob, Hector M. Rodriguez, Yonghong Song, William Wan, Leslie A. Leinwand, James A. Spudich, Robert S. McDowell, J. G. Seidman, Christine E. Seidman

Science. Author manuscript; available in PMC 2016 Apr 5.

Published in final edited form as: Science. 2016 Feb 5; 351(6273): 617–621. doi: 10.1126/science.aad3456

PMCID:: PMC4784435

Article PDF–1.4M

Select item 41005533.

Allele-specific Silencing of Mutant Myh6 Allele in Mice Suppresses Hypertrophic Cardiomyopathy

Jianming Jiang, Hiroko Wakimoto, J. G. Seidman, Christine E. Seidman

Science. Author manuscript; available in PMC 2014 Jul 16.

Published in final edited form as: Science. 2013 Oct 4; 342(6154): 111–114. doi: 10.1126/science.1236921

PMCID:: PMC4100553

Article PDF–676K

Select item 35353724.

Myosinopathies: pathology and mechanisms

Homa Tajsharghi, Anders Oldfors

Acta Neuropathol. 2013; 125(1): 3–18. Published online 2012 Aug 5. doi: 10.1007/s00401-012-1024-2

PMCID:: PMC3535372

Article PDF–1.7M

Select item 28988925.

Chromatin regulation by Brg1 underlies heart muscle development and disease

Calvin T. Hang, Jin Yang, Pei Han, Hsiu-Ling Cheng, Ching Shang, Euan Ashley, Bin Zhou, Ching-Pin Chang

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 62–67. doi: 10.1038/nature09130

Correction in:: volume 475 on page 532

PMCID:: PMC2898892

Article PDF–1.8M

Select item 27963716.

A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance

Eva van Rooij, Daniel Quiat, Brett A. Johnson, Lillian B. Sutherland, Xiaoxia Qi, James A. Richardson, Robert J. Kelm, Jr, Eric N. Olson

Dev Cell. Author manuscript; available in PMC 2010 Nov 17.

Published in final edited form as: Dev Cell. 2009 Nov; 17(5): 662–673. doi: 10.1016/j.devcel.2009.10.013

PMCID:: PMC2796371

Article PDF–3.1M

Select item 26693617.

Mutations in the β-myosin rod cause myosin storage myopathy via multiple mechanisms

Thomas Z. Armel, Leslie A. Leinwand

Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15): 6291–6296. Published online 2009 Mar 31. doi: 10.1073/pnas.0900107106

PMCID:: PMC2669361

Article PDF–760K

Select item 18011498.

Autosomal dominant distal myopathy: linkage to chromosome 14.

N G Laing, B A Laing, C Meredith, S D Wilton, P Robbins, K Honeyman, S Dorosz, H Kozman, F L Mastaglia, B A Kakulas

Am J Hum Genet. 1995 Feb; 56(2): 422–427.

PMCID:: PMC1801149

Summary Page Browse PDF–1.0M

Select item 17678749.

Mutations of the β myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

A Woo, H Rakowski, J C Liew, M-S Zhao, C-C Liew, T G Parker, M Zeller, E D Wigle, M J Sole

Heart. 2003 Oct; 89(10): 1179–1185. doi: 10.1136/heart.89.10.1179

PMCID:: PMC1767874

Article PDF–367K

Select item 173488710.

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

E. Blair, S. Price, C. Baty, I. Ostman-Smith, H. Watkins

J Med Genet. 2001 Jun; 38(6): 385–388. doi: 10.1136/jmg.38.6.385

PMCID:: PMC1734887

Summary PDF–229K

Select item 173441011.

Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

P. Richard, R. Isnard, L. Carrier, O. Dubourg, Y. Donatien, B. Mathieu, G. Bonne, F. Gary, P. Charron, A. Hagege, M. Komajda, K. Schwartz, B. Hainque

J Med Genet. 1999 Jul; 36(7): 542–545.

PMCID:: PMC1734410

Summary PDF–86K

Select item 130751312.

Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia

Cordula M. Wolf, Ivan P. G. Moskowitz, Scott Arno, Dorothy M. Branco, Christopher Semsarian, Scott A. Bernstein, Michael Peterson, Michael Maida, Gregory E. Morley, Glenn Fishman, Charles I. Berul, Christine E. Seidman, J. G. Seidman

Proc Natl Acad Sci U S A. 2005 Dec 13; 102(50): 18123–18128. Published online 2005 Dec 6. doi: 10.1073/pnas.0509145102

PMCID:: PMC1307513

Article PDF–673K

Select item 128828313.

The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events

Johanna C. Moolman-Smook, Willem J. De Lange, Eduard C. D. Bruwer, Paul A. Brink, Valerie A. Corfield

Am J Hum Genet. 1999 Nov; 65(5): 1308–1320. Published online 1999 Oct 15. doi: 10.1086/302623

PMCID:: PMC1288283

Article PDF–1.0M

Select item 118205814.

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher Meredith, Ralf Herrmann, Cheryl Parry, Khema Liyanage, Danielle E. Dye, Hayley J. Durling, Rachael M. Duff, Kaye Beckman, Marianne de Visser, Maaike M. van der Graaff, Peter Hedera, John K. Fink, Elizabeth M. Petty, Phillipa Lamont, Vicki Fabian, Leslie Bridges, Thomas Voit, Frank L. Mastaglia, Nigel G. Laing

Am J Hum Genet. 2004 Oct; 75(4): 703–708. Published online 2004 Aug 20. doi: 10.1086/424760