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Tang, P. TTN Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/6008 (accessed on 20 September 2026).
Tang P. TTN Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/6008. Accessed September 20, 2026.
Tang, Peter. "TTN Gene" Encyclopedia, https://encyclopedia.pub/entry/6008 (accessed September 20, 2026).
Tang, P. (2021, January 04). TTN Gene. In Encyclopedia. https://encyclopedia.pub/entry/6008
Tang, Peter. "TTN Gene." Encyclopedia. Web. 04 January, 2021.
TTN Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ttn

Titin

genes

References

  1. 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, CampbellKP, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007Apr;61(4):340-51. Erratum in: Ann Neurol. 2012 May;71(5):728. Citation on PubMed
  2. Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutationupdate. Hum Mutat. 2014 Sep;35(9):1046-59. doi: 10.1002/humu.22611. Epub 2014 Jul21. Review. Citation on PubMed
  3. Fukuzawa A, Lange S, Holt M, Vihola A, Carmignac V, Ferreiro A, Udd B, Gautel M. Interactions with titin and myomesin target obscurin and obscurin-like 1 tothe M-band: implications for hereditary myopathies. J Cell Sci. 2008 Jun1;121(11):1841-51. doi: 10.1242/jcs.028019. Epub 2008 May 13. Citation on PubMed
  4. Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S,Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.Mutations of TTN, encoding the giant muscle filament titin, cause familialdilated cardiomyopathy. Nat Genet. 2002 Feb;30(2):201-4. Epub 2002 Jan 14. Citation on PubMed
  5. Gerull B. The Rapidly Evolving Role of Titin in Cardiac Physiology andCardiomyopathy. Can J Cardiol. 2015 Nov;31(11):1351-9. doi:10.1016/j.cjca.2015.08.016. Epub 2015 Aug 28. Review. Citation on PubMed
  6. Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. AnnMed. 2003;35(6):434-41. Citation on PubMed
  7. Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B,Pardal-Fernández JM, Hammouda el-H, Richard I, Illa I, Udd B. Truncatingmutations in C-terminal titin may cause more severe tibial muscular dystrophy(TMD). Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010.Epub 2008 Oct 22. Citation on PubMed
  8. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Tibial muscular dystrophy is atitinopathy caused by mutations in TTN, the gene encoding the giantskeletal-muscle protein titin. Am J Hum Genet. 2002 Sep;71(3):492-500. Epub 2002 Jul 26. Citation on PubMed or Free article on PubMed Central
  9. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, ConnerL, 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. Truncations of titin causing dilated cardiomyopathy. NEngl J Med. 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. Citation on PubMed or Free article on PubMed Central
  10. 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, Edström L, Ehler E, Udd B, Gautel M. The kinase domain of titin controls muscle gene expression and protein turnover. Science. 2005 Jun10;308(5728):1599-603. Epub 2005 Mar 31. Citation on PubMed
  11. Linke WA. Sense and stretchability: the role of titin and titin-associatedproteins in myocardial stress-sensing and mechanical dysfunction. Cardiovasc Res.2008 Mar 1;77(4):637-48. Review. Citation on PubMed
  12. Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, GonzalezM, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; NationalHeart, Lung, and Blood Institute GO Exome Sequencing Project and the ExomeSequencing Project Family Studies Project Team. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTNtruncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Citation on PubMed or Free article on PubMed Central
  13. Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B,Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P,Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A,Hackman P, Udd B. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53.doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19. Citation on PubMed
  14. Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S,Richard-Crémieux I, Udd B. Myopathies caused by homozygous titin mutations:limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol NeurosurgPsychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22. Citation on PubMed
  15. Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of TitinMutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug30;3(3):293-308. Review. Citation on PubMed or Free article on PubMed Central
  16. Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies andextension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.Neurology. 2005 Feb 22;64(4):636-42. Citation on PubMed
  17. Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi:10.1016/S0072-9752(07)86011-8. Citation on PubMed
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Subjects: Genetics & Heredity
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Update Date: 04 Jan 2021
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