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298 related items for PubMed ID: 17444505
1. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 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. Ann Neurol; 2007 Apr; 61(4):340-51. PubMed ID: 17444505 [Abstract] [Full Text] [Related]
2. Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure. Gotthardt M, Hammer RE, Hübner N, Monti J, Witt CC, McNabb M, Richardson JA, Granzier H, Labeit S, Herz J. J Biol Chem; 2003 Feb 21; 278(8):6059-65. PubMed ID: 12464612 [Abstract] [Full Text] [Related]
5. Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins. Labeit S, Lahmers S, Burkart C, Fong C, McNabb M, Witt S, Witt C, Labeit D, Granzier H. J Mol Biol; 2006 Sep 29; 362(4):664-81. PubMed ID: 16949617 [Abstract] [Full Text] [Related]
6. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 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. Nat Genet; 2002 Feb 29; 30(2):201-4. PubMed ID: 11788824 [Abstract] [Full Text] [Related]
7. Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. Matsumoto Y, Hayashi T, Inagaki N, Takahashi M, Hiroi S, Nakamura T, Arimura T, Nakamura K, Ashizawa N, Yasunami M, Ohe T, Yano K, Kimura A. J Muscle Res Cell Motil; 2005 Feb 29; 26(6-8):367-74. PubMed ID: 16465475 [Abstract] [Full Text] [Related]
8. 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. Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S. Circ Res; 2001 Nov 23; 89(11):1065-72. PubMed ID: 11717165 [Abstract] [Full Text] [Related]
9. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L. J Mol Med (Berl); 2006 Jun 23; 84(6):478-83. PubMed ID: 16733766 [Abstract] [Full Text] [Related]
10. Functional genomics of chicken, mouse, and human titin supports splice diversity as an important mechanism for regulating biomechanics of striated muscle. Granzier H, Radke M, Royal J, Wu Y, Irving TC, Gotthardt M, Labeit S. Am J Physiol Regul Integr Comp Physiol; 2007 Aug 23; 293(2):R557-67. PubMed ID: 17522126 [Abstract] [Full Text] [Related]
12. The zebrafish runzel muscular dystrophy is linked to the titin gene. Steffen LS, Guyon JR, Vogel ED, Howell MH, Zhou Y, Weber GJ, Zon LI, Kunkel LM. Dev Biol; 2007 Sep 15; 309(2):180-92. PubMed ID: 17678642 [Abstract] [Full Text] [Related]
13. M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere. Weinert S, Bergmann N, Luo X, Erdmann B, Gotthardt M. J Cell Biol; 2006 May 22; 173(4):559-70. PubMed ID: 16702235 [Abstract] [Full Text] [Related]
14. Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy. Radke MH, Peng J, Wu Y, McNabb M, Nelson OL, Granzier H, Gotthardt M. Proc Natl Acad Sci U S A; 2007 Feb 27; 104(9):3444-9. PubMed ID: 17360664 [Abstract] [Full Text] [Related]
15. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Neurology; 2001 Apr 10; 56(7):869-77. PubMed ID: 11294923 [Abstract] [Full Text] [Related]
17. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Neurology; 2005 Feb 22; 64(4):636-42. PubMed ID: 15728284 [Abstract] [Full Text] [Related]
18. Titin mutations as the molecular basis for dilated cardiomyopathy. Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, Takahashi M, Hohda S, Ueda K, Nouchi T, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A. Biochem Biophys Res Commun; 2002 Feb 22; 291(2):385-93. PubMed ID: 11846417 [Abstract] [Full Text] [Related]