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Items: 1 to 20 of 124

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. Erratum in: Ann Neurol. 2012 May;71(5):728.

PMID:
17444505
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. Epub 2002 Dec 2.

3.

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B.

Am J Hum Genet. 2002 Sep;71(3):492-500. Epub 2002 Jul 26.

4.

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. Epub 2006 Aug 1.

PMID:
16949617
5.

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity.

Gregorio CC, Trombitás K, Centner T, Kolmerer B, Stier G, Kunke K, Suzuki K, Obermayr F, Herrmann B, Granzier H, Sorimachi H, Labeit S.

J Cell Biol. 1998 Nov 16;143(4):1013-27.

6.

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;26(6-8):367-74.

PMID:
16465475
7.

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. Epub 2007 Jun 23.

8.

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. Epub 2006 May 15.

9.

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.

PMID:
15728284
10.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.

PMID:
25877298
11.

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. Epub 2007 Feb 20.

12.

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;30(2):201-4. Epub 2002 Jan 14.

PMID:
11788824
13.

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.

PMID:
11846417
15.

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;84(6):478-83. Epub 2006 May 6.

PMID:
16733766
16.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.

Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.

17.

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

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.

Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8.

18.

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.

19.

Titins in C.elegans with unusual features: coiled-coil domains, novel regulation of kinase activity and two new possible elastic regions.

Flaherty DB, Gernert KM, Shmeleva N, Tang X, Mercer KB, Borodovsky M, Benian GM.

J Mol Biol. 2002 Oct 25;323(3):533-49.

PMID:
12381307
20.

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D.

Am J Cardiol. 2012 Jun 1;109(11):1644-50. doi: 10.1016/j.amjcard.2012.01.392. Epub 2012 Apr 3.

PMID:
22475360

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