-
1
-
-
34147208940
-
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
-
Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 2006;27:1157-1166.
-
(2006)
Hum Mutat
, vol.27
, pp. 1157-1166
-
-
Awad, M.M.1
Dalal, D.2
Tichnell, C.3
James, C.4
Tucker, A.5
Abraham, T.6
Spevak, P.J.7
Calkins, H.8
Judge, D.P.9
-
2
-
-
64049101148
-
Arrhythmogenic right ventricular cardiomyopathy
-
Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373:1289-1300.
-
(2009)
Lancet
, vol.373
, pp. 1289-1300
-
-
Basso, C.1
Corrado, D.2
Marcus, F.I.3
Nava, A.4
Thiene, G.5
-
3
-
-
0028347223
-
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lunqvist C, Fontaine G, Camerini F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J. 1994;71:215-218. (Pubitemid 24113523)
-
(1994)
British Heart Journal
, vol.71
, Issue.3
, pp. 215-218
-
-
McKenna, W.J.1
Thiene, G.2
Nava, A.3
Fontaliran, F.4
Blomstrom-Lundqvist, C.5
Fontaine, G.6
Camerini, F.7
-
4
-
-
0023685720
-
Familial occurrence of right ventricular dysplasia: A study involving nine families
-
Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Maertini B, Stritoni P, Fasoli G. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol. 1988;12: 1222-1228.
-
(1988)
J Am Coll Cardiol
, vol.12
, pp. 1222-1228
-
-
Nava, A.1
Thiene, G.2
Canciani, B.3
Scognamiglio, R.4
Daliento, L.5
Buja, G.6
Maertini, B.7
Stritoni, P.8
Fasoli, G.9
-
5
-
-
77949908549
-
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
den Haan AD, Tan BY, Zikusoka MN, Llado LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009;2:428-435.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 428-435
-
-
Den Haan, A.D.1
Tan, B.Y.2
Zikusoka, M.N.3
Llado, L.I.4
Jain, R.5
Daly, A.6
Tichnell, C.7
James, C.8
Amat-Alarcon, N.9
Abraham, T.10
Russell, S.D.11
Bluemke, D.A.12
Calkins, H.13
Dalal, D.14
Judge, D.P.15
-
6
-
-
77952971659
-
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Spectrum of mutations and clinical impact in practice
-
Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace. 2010;12:861-868.
-
(2010)
Europace
, vol.12
, pp. 861-868
-
-
Fressart, V.1
Duthoit, G.2
Donal, E.3
Probst, V.4
Deharo, J.C.5
Chevalier, P.6
Klug, D.7
Dubourg, O.8
Delacretaz, E.9
Cosnay, P.10
Scanu, P.11
Extramiana, F.12
Keller, D.13
Hidden-Lucet, F.14
Simon, F.15
Bessirard, V.16
Roux-Buisson, N.17
Hebert, J.L.18
Azarine, A.19
Casset-Senon, D.20
Rouzet, F.21
Lecarpentier, Y.22
Fontaine, G.23
Coirault, C.24
Frank, R.25
Hainque, B.26
Charron, P.27
more..
-
7
-
-
35548997132
-
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
DOI 10.1016/j.jacc.2007.08.008, PII S0735109707026496
-
Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:1813-1821. (Pubitemid 350007965)
-
(2007)
Journal of the American College of Cardiology
, vol.50
, Issue.19
, pp. 1813-1821
-
-
Sen-Chowdhry, S.1
Syrris, P.2
McKenna, W.J.3
-
8
-
-
19944426652
-
Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
-
DOI 10.1016/j.cardiores.2004.10.005, PII S0008636304004407
-
Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005; 65:366-373. (Pubitemid 40082478)
-
(2005)
Cardiovascular Research
, vol.65
, Issue.2
, pp. 366-373
-
-
Beffagna, G.1
Occhi, G.2
Nava, A.3
Vitiello, L.4
Ditadi, A.5
Basso, C.6
Bauce, B.7
Carraro, G.8
Thiene, G.9
Towbin, J.A.10
Danieli, G.A.11
Rampazzo, A.12
-
9
-
-
41649107651
-
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
-
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008;82:809-821.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 809-821
-
-
Merner, N.D.1
Hodgkinson, K.A.2
Haywood, A.F.3
Connors, S.4
French, V.M.5
Drenckhahn, J.D.6
Kupprion, C.7
Ramadanova, K.8
Thierfelder, L.9
McKenna, W.10
Gallagher, B.11
Morris-Larkin, L.12
Bassett, A.S.13
Parfrey, P.S.14
Young, T.L.15
-
10
-
-
0035253502
-
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
-
Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189-194. (Pubitemid 32123976)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.3
, pp. 189-194
-
-
Tiso, N.1
Stephan, D.A.2
Nava, A.3
Bagattin, A.4
Devaney, J.M.5
Stanchi, F.6
Larderet, G.7
Brahmbhatt, B.8
Brown, K.9
Bauce, B.10
Muriago, M.11
Basso, C.12
Thiene, G.13
Danieli, G.A.14
Rampazzo, A.15
-
11
-
-
33745425651
-
The transitional junction: A new functional subcellular domain at the intercalated disc
-
DOI 10.1091/mbc.E05-12-1109
-
Bennett PM, Maggs AM, Baines AJ, Pinder JC. The transitional junction: a new functional subcellular domain at the intercalated disc. Mol Biol Cell. 2006;17:2091-2100. (Pubitemid 44011621)
-
(2006)
Molecular Biology of the Cell
, vol.17
, Issue.4
, pp. 2091-2100
-
-
Bennett, P.M.1
Maggs, A.M.2
Baines, A.J.3
Pinder, J.C.4
-
12
-
-
24744444972
-
Cardiac-specific loss of N-cadherin leads to alteration in connexins with conduction slowing and arrhythmogenesis
-
DOI 10.1161/01.RES.0000181132.11393.18
-
Li J, Patel VV, Kostetskii I, Xiong Y, Chu AF, Jacobson JT, Yu C, Morley GE, Molkentin JD, Radice GL. Cardiac-specific loss of N-cadherin leads to alteration in connexins with conduction slowing and arrhythmogenesis. Circ Res. 2005;97:474-481. (Pubitemid 41298178)
-
(2005)
Circulation Research
, vol.97
, Issue.5
, pp. 474-481
-
-
Li, J.1
Patel, V.V.2
Kostetskii, I.3
Xiong, Y.4
Chu, A.F.5
Jacobson, J.T.6
Yu, C.7
Morley, G.E.8
Molkentin, J.D.9
Radice, G.L.10
-
13
-
-
0035941407
-
The complete gene sequence of titin, expression of an unusual ≈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. 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. Circ Res. 2001;89:1065-1072. (Pubitemid 34640875)
-
(2001)
Circulation Research
, vol.89
, Issue.11
, pp. 1065-1072
-
-
Bang, M.-L.1
Centner, T.2
Fornoff, F.3
Geach, A.J.4
Gotthardt, M.5
McNabb, M.6
Witt, C.C.7
Labeit, D.8
Gregorio, C.C.9
Granzier, H.10
Labeit, S.11
-
14
-
-
33750061609
-
Cardiac titin: Structure, functions and role in disease
-
DOI 10.1016/j.cca.2006.06.035, PII S0009898106004086
-
LeWinter MM, Wu Y, Labeit S, Granzier H. Cardiac titin: structure, functions and role in disease. Clin Chim Acta. 2007;375:1-9. (Pubitemid 44584235)
-
(2007)
Clinica Chimica Acta
, vol.375
, Issue.1-2
, pp. 1-9
-
-
LeWinter, M.M.1
Wu, Y.2
Labeit, S.3
Granzier, H.4
-
15
-
-
45349086526
-
Physiological functions of the giant elastic protein titin in mammalian striated muscle
-
DOI 10.2170/physiolsci.RV005408
-
Fukuda N, Granzier HL, Ishiwata S, Kurihara S. Physiological functions of the giant elastic protein titin in mammalian striated muscle. J Physiol Sci. 2008;58:151-159. (Pubitemid 351846443)
-
(2008)
Journal of Physiological Sciences
, vol.58
, Issue.3
, pp. 151-159
-
-
Fukuda, N.1
Granzier, H.L.2
Ishiwata, S.3
Kurihara, S.4
-
16
-
-
77952481131
-
Cardiac titin: A multifunctional giant
-
LeWinter MM, Granzier H. Cardiac titin: a multifunctional giant. Circulation. 2010;121:2137-2145.
-
(2010)
Circulation
, vol.121
, pp. 2137-2145
-
-
Lewinter, M.M.1
Granzier, H.2
-
17
-
-
1242342244
-
The giant protein titin: A major player in myocardial mechanics, signaling, and disease
-
DOI 10.1161/01.RES.0000117769.88862.F8
-
Granzier HL, Labeit S. The giant protein titin: a major player in myocardial mechanics, signaling, and disease. Circ Res. 2004;94:284-295. (Pubitemid 38240719)
-
(2004)
Circulation Research
, vol.94
, Issue.3
, pp. 284-295
-
-
Granzier, H.L.1
Labeit, S.2
-
18
-
-
0036723943
-
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
-
DOI 10.1086/342380
-
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 a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71: 492-500. (Pubitemid 34970121)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.3
, pp. 492-500
-
-
Hackman, P.1
Vihola, A.2
Haravuori, H.3
Marchand, S.4
Sarparanta, J.5
De Seze, J.6
Labeit, S.7
Witt, C.8
Peltonen, L.9
Richard, I.10
Udd, B.11
-
19
-
-
18444408379
-
Titin mutations as the molecular basis for dilated cardiomyopathy
-
DOI 10.1006/bbrc.2002.6448
-
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. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun. 2002; 291:385-393. (Pubitemid 34694417)
-
(2002)
Biochemical and Biophysical Research Communications
, vol.291
, Issue.2
, pp. 385-393
-
-
Itoh-Satoh, M.1
Hayashi, T.2
Nishi, H.3
Koga, Y.4
Arimura, T.5
Koyanagi, T.6
Takahashi, M.7
Hohda, S.8
Ueda, K.9
Nouchi, T.10
Hiroe, M.11
Marumo, F.12
Imaizumi, T.13
Yasunami, M.14
Kimura, A.15
-
20
-
-
0033610050
-
Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
-
DOI 10.1006/bbrc.1999.1221
-
Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999;262:411-417. (Pubitemid 29429882)
-
(1999)
Biochemical and Biophysical Research Communications
, vol.262
, Issue.2
, pp. 411-417
-
-
Satoh, M.1
Takahashi, M.2
Sakamoto, T.3
Hiroe, M.4
Marumo, F.5
Kimura, A.6
-
21
-
-
67650747244
-
Stressing the giant: A new approach to understanding dilated cardiomyopathy
-
Greaser ML. Stressing the giant: a new approach to understanding dilated cardiomyopathy. J Mol Cell Cardiol. 2009;47:347-349.
-
(2009)
J Mol Cell Cardiol
, vol.47
, pp. 347-349
-
-
Greaser, M.L.1
-
22
-
-
0037120964
-
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria
-
DOI 10.1016/S0735-1097(02)02307-0, PII S0735109702023070
-
Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopa thy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol. 2002;40:1445-1450. (Pubitemid 35192870)
-
(2002)
Journal of the American College of Cardiology
, vol.40
, Issue.8
, pp. 1445-1450
-
-
Hamid M.Shoaib1
Norman, M.2
Quraishi, A.3
Firoozi, S.4
Thaman, R.5
Gimeno, J.R.6
Sachdev, B.7
Rowland, E.8
Elliott, P.M.9
McKenna, W.J.10
-
23
-
-
77950482741
-
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria
-
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31:806-814.
-
(2010)
Eur Heart J
, vol.31
, pp. 806-814
-
-
Marcus, F.I.1
McKenna, W.J.2
Sherrill, D.3
Basso, C.4
Bauce, B.5
Bluemke, D.A.6
Calkins, H.7
Corrado, D.8
Cox, M.G.9
Daubert, J.P.10
Fontaine, G.11
Gear, K.12
Hauer, R.13
Nava, A.14
Picard, M.H.15
Protonotarios, N.16
Saffitz, J.E.17
Sanborn, D.M.18
Steinberg, J.S.19
Tandri, H.20
Thiene, G.21
Towbin, J.A.22
Tsatsopoulou, A.23
Wichter, T.24
Zareba, W.25
more..
-
24
-
-
33644624797
-
Automating sequence-based detection and genotyping of SNPs from diploid samples
-
Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet. 2006;38:375-381.
-
(2006)
Nat Genet
, vol.38
, pp. 375-381
-
-
Stephens, M.1
Sloan, J.S.2
Robertson, P.D.3
Scheet, P.4
Nickerson, D.A.5
-
25
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
DOI 10.1101/gr.212802
-
Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002;12:436-446. (Pubitemid 34233019)
-
(2002)
Genome Research
, vol.12
, Issue.3
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
26
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894-3900. (Pubitemid 35012462)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.17
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
27
-
-
57649089450
-
Screening of fusion partners for high yield expression and purification of bioactive viscotoxins
-
Bogomolovas J, Simon B, Sattler M, Stier G. Screening of fusion partners for high yield expression and purification of bioactive viscotoxins. Protein Expr Purif. 2009;64:16-23.
-
(2009)
Protein Expr Purif
, vol.64
, pp. 16-23
-
-
Bogomolovas, J.1
Simon, B.2
Sattler, M.3
Stier, G.4
-
28
-
-
0033106249
-
Exploring protein interiors: The role of a buried histidine in the KH module fold
-
DOI 10.1002/(SICI)1097-0134(19990301)34:4<484::AID-PROT8>3.0.CO;2-P
-
Fraternali F, Amodeo P, Musco G, Nilges M, Pastore A. Exploring protein interiors: the role of a buried histidine in the KH module fold. Proteins. 1999;34:484-496. (Pubitemid 29129699)
-
(1999)
Proteins: Structure, Function and Genetics
, vol.34
, Issue.4
, pp. 484-496
-
-
Fraternali, F.1
Amodeo, P.2
Musco, G.3
Nilges, M.4
Pastore, A.5
-
29
-
-
0033669185
-
Point mutations alter the mechanical stability of immunoglobulin modules
-
Li H, Carrion-Vazquez M, Oberhauser AF, Marszalek PE, Fernandez JM. Point mutations alter the mechanical stability of immunoglobulin modules. Nat Struct Biol. 2000;7:1117-1120.
-
(2000)
Nat Struct Biol
, vol.7
, pp. 1117-1120
-
-
Li, H.1
Carrion-Vazquez, M.2
Oberhauser, A.F.3
Marszalek, P.E.4
Fernandez, J.M.5
-
30
-
-
18544406997
-
Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity
-
Freiburg A, Trombitas K, Hell W, Cazorla O, Fougerousse F, Centner T, Kolmerer B, Witt C, Beckmann JS, Gregorio CC, Granzier H, Labeit S. Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity. Circ Res. 2000;86: 1114-1121. (Pubitemid 30396035)
-
(2000)
Circulation Research
, vol.86
, Issue.11
, pp. 1114-1121
-
-
Freiburg, A.1
Trombitas, K.2
Hell, W.3
Cazorla, O.4
Fougerousse, F.5
Centner, T.6
Kolmerer, B.7
Witt, C.8
Beckmann, J.S.9
Gregorio, C.C.10
Granzier, H.11
Labeit, S.12
-
31
-
-
0034786066
-
Cardiac titin isoforms are coexpressed in the half-sarcomere and extend independently
-
Trombitas K, Wu Y, Labeit D, Labeit S, Granzier H. Cardiac titin isoforms are coexpressed in the half-sarcomere and extend independently. Am J Physiol Heart Circ Physiol. 2001;281:H1793-H1799.
-
(2001)
Am J Physiol Heart Circ Physiol
, vol.281
-
-
Trombitas, K.1
Wu, Y.2
Labeit, D.3
Labeit, S.4
Granzier, H.5
-
32
-
-
0242322488
-
Molecular basis of passive stress relaxation in human soleus fibers: Assessment of the role of immunoglobulin-like domain unfolding
-
Trombitas K, Wu Y, McNabb M, Greaser M, Kellermayer MS, Labeit S, Granzier H. Molecular basis of passive stress relaxation in human soleus fibers: assessment of the role of immunoglobulin-like domain unfolding. Biophys J. 2003;85:3142-3153. (Pubitemid 37345801)
-
(2003)
Biophysical Journal
, vol.85
, Issue.5
, pp. 3142-3153
-
-
Trombitas, K.1
Wu, Y.2
McNabb, M.3
Greaser, M.4
Kellermayer, M.S.Z.5
Labeit, S.6
Granzier, H.L.7
-
33
-
-
0037192845
-
Molecular mechanics of cardiac titin's PEVK and N2B spring elements
-
DOI 10.1074/jbc.M200356200
-
Watanabe K, Nair P, Labeit D, Kellermayer MS, Greaser M, Labeit S, Granzier H. Molecular mechanics of cardiac titin's PEVK and N2B spring elements. J Biol Chem. 2002;277:11549-11558. (Pubitemid 34952926)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.13
, pp. 11549-11558
-
-
Watanabe, K.1
Nair, P.2
Labeit, D.3
Kellermayer, M.S.S.Z.4
Greaser, M.5
Labeit, S.6
Granzier, H.7
-
34
-
-
0031848099
-
Unfolding of titin immunoglobulin domains by steered molecular dynamics simulation
-
Lu H, Isralewitz B, Krammer A, Vogel V, Schulten K. Unfolding of titin immunoglobulin domains by steered molecular dynamics simulation. Biophys J. 1998;75:662-671. (Pubitemid 28357508)
-
(1998)
Biophysical Journal
, vol.75
, Issue.2
, pp. 662-671
-
-
Lu, H.1
Isralewitz, B.2
Krammer, A.3
Vogel, V.4
Schulten, K.5
-
35
-
-
0036389817
-
Mechanical unfolding of a titin Ig domain: Structure of unfolding intermediate revealed by combining AFM, molecular dynamics simulations, NMR and protein engineering
-
Fowler SB, Best RB, Toca Herrera JL, Rutherford TJ, Steward A, Paci E, Karplus M, Clarke J. Mechanical unfolding of a titin Ig domain: structure of unfolding intermediate revealed by combining AFM, molecular dynamics simulations, NMR and protein engineering. J Mol Biol. 2002; 322:841-849.
-
(2002)
J Mol Biol
, vol.322
, pp. 841-849
-
-
Fowler, S.B.1
Best, R.B.2
Toca Herrera, J.L.3
Rutherford, T.J.4
Steward, A.5
Paci, E.6
Karplus, M.7
Clarke, J.8
-
36
-
-
0033538417
-
Modularity and homology: Modelling of the type II module family from titin
-
DOI 10.1006/jmbi.1999.2876
-
Fraternali F, Pastore A. Modularity and homology: modelling of the type II module family from titin. J Mol Biol. 1999;290:581-593. (Pubitemid 29324841)
-
(1999)
Journal of Molecular Biology
, vol.290
, Issue.2
, pp. 581-593
-
-
Fraternali, F.1
Pastore, A.2
-
37
-
-
30944444021
-
Sarcomeric proteins and Familial Hypertrophic Cardiomyopathy: Linking mutations in structural proteins to complex cardiovascular phenotypes
-
DOI 10.1007/s10741-005-5253-5
-
Tardiff JC. Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev. 2005;10:237-248. (Pubitemid 43115833)
-
(2005)
Heart Failure Reviews
, vol.10
, Issue.3
, pp. 237-248
-
-
Tardiff, J.C.1
-
38
-
-
33744495726
-
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy
-
DOI 10.1007/s00109-006-0060-6
-
Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. J Mol Med. 2006;84: 478-483. (Pubitemid 43801326)
-
(2006)
Journal of Molecular Medicine
, vol.84
, Issue.6
, pp. 478-483
-
-
Gerull, B.1
Atherton, J.2
Geupel, A.3
Sasse-Klaassen, S.4
Heuser, A.5
Frenneaux, M.6
McNabb, M.7
Granzier, H.8
Labeit, S.9
Thierfelder, L.10
-
39
-
-
0036478897
-
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
-
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. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30: 201-204.
-
(2002)
Nat Genet
, vol.30
, pp. 201-204
-
-
Gerull, B.1
Gramlich, M.2
Atherton, J.3
McNabb, M.4
Trombitas, K.5
Sasse-Klaassen, S.6
Seidman, J.G.7
Seidman, C.8
Granzier, H.9
Labeit, S.10
Frenneaux, M.11
Thierfelder, L.12
-
40
-
-
33745698393
-
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. Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. J Muscle Res Cell Motil. 2005;26:367-374.
-
(2005)
J Muscle Res Cell Motil
, vol.26
, pp. 367-374
-
-
Matsumoto, Y.1
Hayashi, T.2
Inagaki, N.3
Takahashi, M.4
Hiroi, S.5
Nakamura, T.6
Arimura, T.7
Nakamura, K.8
Ashizawa, N.9
Yasunami, M.10
Ohe, T.11
Yano, K.12
Kimura, A.13
-
41
-
-
0030712343
-
Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study
-
DOI 10.1016/S0735-1097(97)00332-X, PII S073510979700332X
-
Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997;30:1512-1520. (Pubitemid 27486470)
-
(1997)
Journal of the American College of Cardiology
, vol.30
, Issue.6
, pp. 1512-1520
-
-
Corrado, D.1
Basso, C.2
Thiene, G.3
McKenna, W.J.4
Davies, M.J.5
Fontaliran, F.6
Nava, A.7
Silvestri, F.8
Blomstrom-Lundqvist, C.9
Wlodarska, E.K.10
Fontaine, G.11
Camerini, F.12
-
42
-
-
80052150059
-
Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: Results from a 10-year registry
-
Pinamonti B, Dragos AM, Pyxaras SA, Merlo M, Pivetta A, Barbati G, Di Lenarda A, Morgera T, Mestroni L, Sinagra G. Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry. Eur Heart J. 2011;32:1105-1113.
-
(2011)
Eur Heart J
, vol.32
, pp. 1105-1113
-
-
Pinamonti, B.1
Dragos, A.M.2
Pyxaras, S.A.3
Merlo, M.4
Pivetta, A.5
Barbati, G.6
Di Lenarda, A.7
Morgera, T.8
Mestroni, L.9
Sinagra, G.10
-
43
-
-
70350474285
-
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the des gene
-
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm. 2009;6:1574-1583.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1574-1583
-
-
Van Tintelen, J.P.1
Van Gelder, I.C.2
Asimaki, A.3
Suurmeijer, A.J.4
Wiesfeld, A.C.5
Jongbloed, J.D.6
Van Den Wijngaard, A.7
Kuks, J.B.8
Van Spaendonck-Zwarts, K.Y.9
Notermans, N.10
Boven, L.11
Van Den Heuvel, F.12
Veenstra-Knol, H.E.13
Saffitz, J.E.14
Hofstra, R.M.15
Van Den Berg, M.P.16
-
44
-
-
77956445622
-
Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy
-
Roberts JD, Veinot JP, Rutberg J, Gollob MH. Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2010;19:316-320.
-
(2010)
Cardiovasc Pathol
, vol.19
, pp. 316-320
-
-
Roberts, J.D.1
Veinot, J.P.2
Rutberg, J.3
Gollob, M.H.4
-
45
-
-
77955526103
-
The giant protein titin as an integrator of myocyte signaling pathways
-
Linke WA, Kruger M. The giant protein titin as an integrator of myocyte signaling pathways. Physiology (Bethesda). 2010;25:186-198.
-
(2010)
Physiology (Bethesda)
, vol.25
, pp. 186-198
-
-
Linke, W.A.1
Kruger, M.2
-
46
-
-
9144273787
-
Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling
-
DOI 10.1016/j.jmb.2003.12.021
-
Witt CC, Ono Y, Puschmann E, McNabb M, Wu Y, Gotthardt M, Witt SH, Haak M, Labeit D, Gregorio CC, Sorimachi H, Granzier H, Labeit S. Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling. J Mol Biol. 2004;336:145-154. (Pubitemid 38102336)
-
(2004)
Journal of Molecular Biology
, vol.336
, Issue.1
, pp. 145-154
-
-
Witt, C.C.1
Ono, Y.2
Puschmann, E.3
McNabb, M.4
Wu, Y.5
Gotthardt, M.6
Witt, S.H.7
Haak, M.8
Labeit, D.9
Gregorio, C.C.10
Sorimachi, H.11
Granzier, H.12
Labeit, S.13
-
47
-
-
77956807136
-
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
-
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm. 2009;7:1058-1064.
-
(2009)
Heart Rhythm
, vol.7
, pp. 1058-1064
-
-
Otten, E.1
Asimaki, A.2
Maass, A.3
Van Langen, I.M.4
Van Der Wal, A.5
De Jonge, N.6
Van Den Berg, M.P.7
Saffitz, J.E.8
Wilde, A.A.9
Jongbloed, J.D.10
Van Tintelen, J.P.11
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