PMC Links for OMIM (Select 188840) - PMC

Select item 65582481.

Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure

Gerald Pfeffer, Rita Barresi, Ian J Wilson, Steven A Hardy, Helen Griffin, Judith Hudson, Hannah R Elliott, Aravind V Ramesh, Aleksandar Radunovic, John Winer, Sujit Vaidya, Ashok Raman, Mark Busby, Maria E Farrugia, Alec Ming, Chris Everett, Hedley CA Emsley, Rita Horvath, Volker Straub, Kate Bushby, Hanns Lochmüller, Patrick F Chinnery, Anna Sarkozy

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2014 Mar 1; 85(3): 331–338. Published online 2013 Mar 13. doi: 10.1136/jnnp-2012-304728

PMCID:: PMC6558248

Abstract Article PDF–1.3M

Select item 56659402.

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

Abstract Article PDF–4.8M

Select item 46183163.

Titin Mutations in iPS cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy

John T. Hinson, Anant Chopra, Navid Nafissi, William J. Polacheck, Craig C. Benson, Sandra Swist, Joshua Gorham, Luhan Yang, Sebastian Schafer, Calvin C. Sheng, Alireza Haghighi, Jason Homsy, Norbert Hubner, George Church, Stuart A. Cook, Wolfgang A. Linke, Christopher S. Chen, J. G. Seidman, Christine E. Seidman

Science. Author manuscript; available in PMC 2015 Oct 24.

Published in final edited form as: Science. 2015 Aug 28; 349(6251): 982–986. doi: 10.1126/science.aaa5458

PMCID:: PMC4618316

Abstract Article PDF–524K

Select item 39541104.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Claire Chauveau, Carsten G. Bonnemann, Cedric Julien, Ay Lin Kho, Harold Marks, Beril Talim, Philippe Maury, Marie Christine Arne-Bes, Emmanuelle Uro-Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schafer, Beth Kaufmann, Livija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloglu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro

Hum Mol Genet. 2014 Feb 15; 23(4): 980–991. Published online 2013 Oct 8. doi: 10.1093/hmg/ddt494

PMCID:: PMC3954110

Abstract Article PDF–1.6M

Select item 36600315.

Truncations of Titin Causing Dilated Cardiomyopathy

Daniel S. Herman, Lien Lam, Matthew R.G. Taylor, Libin Wang, Polakit Teekakirikul, Danos Christodoulou, Lauren Conner, Steven R. DePalma, Barbara McDonough, Elizabeth Sparks, Debbie Lin Teodorescu, Allison L. Cirino, Nicholas R. Banner, Dudley J. Pennell, Sharon Graw, Marco Merlo, Andrea Di Lenarda, Gianfranco Sinagra, J. Martijn Bos, Michael J. Ackerman, Richard N. Mitchell, Charles E. Murry, Neal K. Lakdawala, Carolyn Y. Ho, Paul J.R. Barton, Stuart A. Cook, Luisa Mestroni, J.G. Seidman, Christine E. Seidman

N Engl J Med. Author manuscript; available in PMC 2013 May 21.

Published in final edited form as: N Engl J Med. 2012 Feb 16; 366(7): 619–628. doi: 10.1056/NEJMoa1110186

PMCID:: PMC3660031

Abstract Article PDF–1.7M

Select item 36071136.

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott

J Med Genet. 2013 Apr; 50(4): 228–239. Published online 2013 Feb 8. doi: 10.1136/jmedgenet-2012-101270

PMCID:: PMC3607113

Abstract Article PDF–331K

Select item 33597547.

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, David J. Dick, Rita Horvath, Mauro Santibanez-Koref, Bjarne Udd, Patrick F. Chinnery

Brain. 2012 Jun; 135(6): 1695–1713. Published online 2012 May 9. doi: 10.1093/brain/aws102

PMCID:: PMC3359754

Abstract Article PDF–1.4M

Select item 29433158.

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

Jaakko Sarparanta, Gaëlle Blandin, Karine Charton, Anna Vihola, Sylvie Marchand, Astrid Milic, Peter Hackman, Elisabeth Ehler, Isabelle Richard, Bjarne Udd

J Biol Chem. 2010 Sep 24; 285(39): 30304–30315. Published online 2010 Jul 15. doi: 10.1074/jbc.M110.108720

PMCID:: PMC2943315

Abstract Article PDF–4.1M

Select item 18055639.

Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy

Michael H. Radke, Jun Peng, Yiming Wu, Mark McNabb, O. Lynne Nelson, Henk Granzier, Michael Gotthardt

Proc Natl Acad Sci U S A. 2007 Feb 27; 104(9): 3444–3449. Published online 2007 Feb 20. doi: 10.1073/pnas.0608543104

PMCID:: PMC1805563

Abstract Article PDF–1.0M

Select item 137779610.

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

P Nicolao, F Xiang, L G Gunnarsson, B Giometto, L Edström, M Anvret, Z Zhang

Am J Hum Genet. 1999 Mar; 64(3): 788–792. doi: 10.1086/302281

PMCID:: PMC1377796

Summary PDF–250K

Select item 135039911.

mdm Muscular Dystrophy: Interactions with Calpain 3 and a Novel Functional Role for Titin’s N2A Domain

Kimberly A. Huebsch, Elena Kudryashova, Christine M. Wooley, Roger B. Sher, Kevin L. Seburn, Melissa J. Spencer, Gregory A. Cox

Hum Mol Genet. Author manuscript; available in PMC 2006 Jan 25.

Published in final edited form as: Hum Mol Genet. 2005 Oct 1; 14(19): 2801–2811. Published online 2005 Aug 22. doi: 10.1093/hmg/ddi313

PMCID:: PMC1350399

Abstract Article PDF–846K

Select item 37918812.

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, Jaakko Sarparanta, Jerome de Seze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd

Am J Hum Genet. 2002 Sep; 71(3): 492–500. Published online 2002 Jul 26. doi: 10.1086/342380

PMCID:: PMC379188

Abstract Article PDF–604K

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