| 1 | DMRTA2, TTN
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| Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
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| Nielsen JB, Fritsche LG, Zhou W, Teslovich TM, Holmen OL, Gustafsson S, Gabrielsen ME, Schmidt EM, Beaumont R, Wolford BN, Lin M, Brummett CM, Preuss MH, Refsgaard L, Bottinger EP, Graham SE, Surakka I, Chu Y, Skogholt AH, Dalen H, Boyle AP, Oral H, Herron TJ, Kitzman J, Jalife J, Svendsen JH, Olesen MS, Njĝlstad I, Lĝchen ML, Baras A, Gottesman O, Marcketta A, O'Dushlaine C, Ritchie MD, Wilsgaard T, Loos RJF, Frayling TM, Boehnke M, Ingelsson E, Carey DJ, Dewey FE, Kang HM, Abecasis GR, Hveem K, Willer CJ.
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| Am J Hum Genet 102(1):103-115. doi: 10.1016/j.ajhg.2017.12.003. Epub 2017 Dec 28.
2018
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| 2 | RCM4, TTN
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| Titin mutation in familial restrictive cardiomyopathy.
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| Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M.
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| Int J Cardiol 171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25.
2014
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| 3 | EOFMC, TTN
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| Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
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| Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A.
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| Hum Mol Genet 23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8.
2014
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| 4 | TTN
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| Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts.
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| Kötter S, Gout L, Von Frieling-Salewsky M, Müller AE, Helling S, Marcus K, Dos Remedios C, Linke WA, Krüger M.
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| Cardiovasc Res 99(4):648-56. doi: 10.1093/cvr/cvt144. Epub 2013 Jun 13.
2013
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| 5 | TTN
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| Titin is a major human disease gene.
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| LeWinter MM, Granzier HL.
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| Circulation 127(8):938-44. doi: 10.1161/CIRCULATIONAHA.112.139717. Review. No abstract available.
2013
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| 6 | TTN
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| Altered mechanical properties of titin immunoglobulin domain 27 in the presence of calcium.
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| DuVall MM, Gifford JL, Amrein M, Herzog W.
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| Eur Biophys J 42(4):301-7. doi: 10.1007/s00249-012-0875-8. Epub 2012 Dec 7.
2013
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| 7 | FHL1, TTN
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| A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics.
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| Raskin A, Lange S, Banares K, Lyon RC, Zieseniss A, Lee LK, Yamazaki KG, Granzier HL, Gregorio CC, McCulloch AD, Omens JH, Sheikh F.
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| J Biol Chem 287(35):29273-84. doi: 10.1074/jbc.M112.372839. Epub 2012 Jul 9.
2012
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| 8 | RBM20, TTN
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| RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
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| Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M.
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| Nat Med 18(5):766-73. doi: 10.1038/nm.2693.
2012
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| 9 | CDM1G, TTN
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| Truncations of titin causing dilated cardiomyopathy.
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| Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE.
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| N Engl J Med 366(7):619-28. doi: 10.1056/NEJMoa1110186.
2012
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| 10 | TTN
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| Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248-249.
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| Zelinka L, McCann S, Budde J, Sethi S, Guidos M, Giles R, Walker GR.
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| Biochem Biophys Res Commun 411(3):501-5. Epub 2011 Jun 29.
2011
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| 11 | OBSL1, TTN
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| Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin.
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| Sauer F, Vahokoski J, Song YH, Wilmanns M.
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| EMBO Rep 11(7):534-40. Epub 2010 May 21.PMID: 20489725 2010
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| 12 | TCAP, TTN
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| The titin-telethonin complex is a directed, superstable molecular bond in the muscle Z-disk.
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| Bertz M, Wilmanns M, Rief M.
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| Proc Natl Acad Sci U S A 106(32):13307-133310. Epub 2009 Jul 21.PMID: 19622741 2009
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| 13 | OBSCN, TTN
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| Muscle giants: molecular scaffolds in sarcomerogenesis.
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| Kontrogianni-Konstantopoulos A, Ackermann MA, Bowman AL, Yap SV, Bloch RJ.
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| Physiol Rev 89(4):1217-67. Review.
2009
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| 14 | ACTN1, TTN
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| Smooth muscle titin Zq domain interaction with the smooth muscle alpha-actinin central rod.
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| Chi RJ, Simon AR, Bienkiewicz EA, Felix A, Keller TC 3rd.
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| J Biol Chem 283(30):20959-67. Epub 2008 Jun 2.
2008
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| 15 | EOMFC, TTN
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| C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
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| Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A.
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| Ann Neurol 61(4):340-51.
2007
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| 16 | TTN
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| Nuclear titin interacts with A- and B-type lamins in vitro and in vivo.
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| Zastrow MS, Flaherty DB, Benian GM, Wilson KL.
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| J Cell Sci 119(Pt 2):239-49. 2006
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| 17 | TTN
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| Mechanical strength of the titin Z1Z2-telethonin complex.
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| Lee EH, Gao M, Pinotsis N, Wilmanns M, Schulten K.
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| Structure 14(3):497-509. 2006
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| 18 | LGMD2J, CAPN3, TTN
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| Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
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| Huebsch KA, Kudryashova E, Wooley CM, Sher RB, Seburn KL, Spencer MJ, Cox GA.
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| Hum Mol Genet 14(19):2801-11. Epub 2005 Aug 22. 2005
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| 19 | MPRM, NBR1, SQSTM1, TTN
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| The kinase domain of titin controls muscle gene expression and protein turnover.
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| Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edstrom L, Ehler E, Udd B, Gautel M.
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| Science 308(5728):1599-603. Epub 2005 Mar 31. 2005
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| 20 | LGMD2J, TMDT, TTN
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| Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
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| Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.
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| Neurology 64(4):636-42. 2005
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| 21 | TTN, NEB, TRIM63, TRIM55, MYOT, TRIM54
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| MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
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| Witt SH, Granzier H, Witt CC, Labeit S.
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| J Mol Biol 350(4):713-22. 2005
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| 22 | TTN, ACTA1
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| Differential actin binding along the PEVK domain of skeletal muscle titin.
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| Nagy A, Cacciafesta P, Grama L, Kengyel A, Malnasi-Csizmadia A, Kellermayer MS.
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| J Cell Sci 117(Pt 24):5781-9. Epub 2004 Oct 26. 2004
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| 23 | CMD1G, CMH9, TMDT, TTN
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| The Muscular Dystrophy with Myositis (mdm) Mouse Mutation Disrupts a Skeletal Muscle-Specific Domain of Titin.
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| Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA.
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| Genomics 79(2):146-9. 2002
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| 24 | TTN
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| Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
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| Gerull B, Gramlich M, Atherton J, McNabb M, Trombitas K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.
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| Nat Genet 30(2):201-4. 2002
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| 25 | GMEB1, GMEB2, TRIM63, TTN
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| Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1.
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| McElhinny AS, Kakinuma K, Sorimachi H, Labeit S, Gregorio CC.
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| J Cell Biol 157(1):125-36. 2002
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| 26 | TTN
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| Molecular mechanics of cardiac titin's PEVK and N2B spring elements.
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| Watanabe K, Nair P, Labeit D, Kellermayer MS, Greaser M, Labeit S, Granzier H.
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| J Biol Chem 277(13):11549-58. 2002
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| 27 | TMDT, TTN
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| Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
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| Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B.
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| Am J Hum Genet 71(3):492-500. Epub 2002 Jul 26. 2002
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| 28 | TTN
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| Titin; a multidomain protein that behaves as the sum of its parts.
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| Scott KA, Steward A, Fowler SB, Clarke J.
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| J Mol Biol 315(4):819-29. 2002
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| 29 | FHL2, TTN
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| Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2.
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| Lange S, Auerbach D, McLoughlin P, Perriard E, Schafer BW, Perriard JC, Ehler E.
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| J Cell Sci 115(Pt 24):4925-36. 2002
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| 30 | TMDT, TTN
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| Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
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| Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B.
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| Neurology 56(7):869-77. 2001
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| 31 | TTN
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| The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.
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| Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S.
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| Circ Res 89(11):1065-72. 2001
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| 32 | TTN
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| Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity.
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| Freiburg A, Trombitas K, Hell W, Cazorla O, Fougerousse F, Centner T, Kolmerer B, Witt C, Beckmann JS, Gregorio CC, Granzier H, Labeit S.
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| Circ Res 86(11):1114-21. 2000
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| 33 | TTN
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| Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
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| Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A.
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| Biochem Biophys Res Commun 262(2):411-7 1999
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| 34 | CAPN3, SGCA, SGCB, TTN
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| Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
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| Fougerousse F, Durand M, Suel L, Pourquie O, Delezoide AL, Romero NB, Abitbol M, Beckmann JS.
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| Genomics 48(2):145-56. 1998
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| 35 | TTN
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| Structural basis for activation of the titin kinase domain during myofibrillogenesis.
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| Mayans O, et al.
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| Nature 395(6705):863-9 1998
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| 36 | TCAP, TTN
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| The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity.
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| Gregorio CC, Trombitas K, Centner T, Kolmerer B, Stier G, Kunke K, Suzuki K, Obermayr F, Herrmann B, Granzier H, Sorimachi H, Labeit S.
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| J Cell Biol 143(4):1013-27. 1998
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| 37 | TTN
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| Elasticity and unfolding of single molecules of the giant muscle protein titin.
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| Tskhovrebova L, Trinick J, Sleep JA, Simmons RM.
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| Nature 387(6630):308-12. 1997
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| 38 | NEB, TTN
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| Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
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| Pelin K, Ridanpaa M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C.
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| Eur J Hum Genet 5(4):229-34. 1997
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| 39 | MYOM1, TTN, MYOM2
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| The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins.
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| Vinkemeier U, Obermann W, Weber K, Furst DO.
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| J Cell Sci 106 ( Pt 1):319-30. 1993
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| 40 | TTN
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| A regular pattern of two types of 100-residue motif in the sequence of titin.
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| Labeit S, et al.
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| Nature 345 : 273-276. 1990
|