-
1
-
-
42649092901
-
Mechanisms of disease: Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
10.1038/ncpcardio1182 1:CAS:528:DC%2BD1cXkvF2jsr4%3D 18382419
-
MM Awad H Calkins DP Judge 2008 Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy Nat Clin Pract Cardiovasc Med 5 258 267 10.1038/ncpcardio1182 1:CAS:528:DC%2BD1cXkvF2jsr4%3D 18382419
-
(2008)
Nat Clin Pract Cardiovasc Med
, vol.5
, pp. 258-267
-
-
Awad, M.M.1
Calkins, H.2
Judge, D.P.3
-
2
-
-
13444269543
-
Haploview analysis and visualization of LD and haploview maps
-
10.1093/bioinformatics/bth457 15297300
-
JC Barrett B Fry J Mallet MJ Daly 2004 Haploview analysis and visualization of LD and haploview maps Bioinformatics 21 263 265 10.1093/bioinformatics/bth457 15297300
-
(2004)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Mallet, J.3
Daly, M.J.4
-
3
-
-
0032837739
-
Down regulation of Striatin, a neuronal rat locomotor activity
-
10.1002/(SICI)1097-4695(199908)40:2<234::AID-NEU9>3.0.CO;2-T 1:CAS:528:DyaK1MXltVOmurw%3D 10413453
-
M Bartoli JP Ternaud C Forni P Portalier P Salin M Amalric A Monneron 1999 Down regulation of Striatin, a neuronal rat locomotor activity J Neurobiol 40 234 243 10.1002/(SICI)1097-4695(199908)40:2<234::AID-NEU9>3.0.CO;2-T 1:CAS:528:DyaK1MXltVOmurw%3D 10413453
-
(1999)
J Neurobiol
, vol.40
, pp. 234-243
-
-
Bartoli, M.1
Ternaud, J.P.2
Forni, C.3
Portalier, P.4
Salin, P.5
Amalric, M.6
Monneron, A.7
-
4
-
-
1542619239
-
Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: New animal model of human disease
-
10.1161/01.CIR.0000118494.07530.65 14993138
-
CB Basso PR Fox KM Meurs JA Towbin AW Spier F Calabrese BJ Maron G Thiene 2004 Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: new animal model of human disease Circulation 109 1180 1185 10.1161/01.CIR.0000118494.07530.65 14993138
-
(2004)
Circulation
, vol.109
, pp. 1180-1185
-
-
Basso, C.B.1
Fox, P.R.2
Meurs, K.M.3
Towbin, J.A.4
Spier, A.W.5
Calabrese, F.6
Maron, B.J.7
Thiene, G.8
-
5
-
-
64049101148
-
Arrhythmogenic right ventricular cardiomyopathy
-
10.1016/S0140-6736(09)60256-7 19362677
-
CB Basso D Corrado A Nava 2009 Arrhythmogenic right ventricular cardiomyopathy Lancet 373 1289 1300 10.1016/S0140-6736(09)60256-7 19362677
-
(2009)
Lancet
, vol.373
, pp. 1289-1300
-
-
Basso, C.B.1
Corrado, D.2
Nava, A.3
-
6
-
-
66149136534
-
Magnetic resonance imaging of right ventricular morphology and function in boxer dogs with arrhythmogenic right ventricular cardiomyopathy
-
10.1111/j.1939-1676.2008.0266.x 1:STN:280:DC%2BD1M3jt1Ggsg%3D%3D 19192154
-
RD Baumwart KM Meurs SV Raman 2009 Magnetic resonance imaging of right ventricular morphology and function in boxer dogs with arrhythmogenic right ventricular cardiomyopathy J Vet Intern Med 23 271 274 10.1111/j.1939-1676.2008. 0266.x 1:STN:280:DC%2BD1M3jt1Ggsg%3D%3D 19192154
-
(2009)
J Vet Intern Med
, vol.23
, pp. 271-274
-
-
Baumwart, R.D.1
Meurs, K.M.2
Raman, S.V.3
-
7
-
-
19944426652
-
Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy
-
10.1016/j.cardiores.2004.10.005 1:CAS:528:DC%2BD2MXitVamtA%3D%3D 15639475
-
G Beffagna G Occhi A Nava L Vitiello A Ditadi C Basso B Bauce G Carraro G Thiene JA Towbin GA Danieli A Rampazzo 2005 Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy Cardiovasc Res 65 366 373 10.1016/j.cardiores.2004.10.005 1:CAS:528:DC%2BD2MXitVamtA%3D%3D 15639475
-
(2005)
Cardiovasc Res
, vol.65
, 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
-
8
-
-
9444244974
-
A novel calmodulin-binding protein, belonging to the WD-Repeat Family, is localized to dendrites of a subset of CNS neurons
-
10.1083/jcb.134.4.1051 1:CAS:528:DyaK28XltFGrtbw%3D 8769426
-
F Castets M Bartoli JV Barnier G Baillat P Salin A Moqrich JP Bourgeois F Denizot G Rougon G Calothy A Monneron 1996 A novel calmodulin-binding protein, belonging to the WD-Repeat Family, is localized to dendrites of a subset of CNS neurons J Cell Biol 134 1051 1062 10.1083/jcb.134.4.1051 1:CAS:528: DyaK28XltFGrtbw%3D 8769426
-
(1996)
J Cell Biol
, vol.134
, pp. 1051-1062
-
-
Castets, F.1
Bartoli, M.2
Barnier, J.V.3
Baillat, G.4
Salin, P.5
Moqrich, A.6
Bourgeois, J.P.7
Denizot, F.8
Rougon, G.9
Calothy, G.10
Monneron, A.11
-
9
-
-
64749099749
-
Role of 5 and 3 untranslated regions of mRNAs in human diseases
-
10.1042/BC20080104 1:CAS:528:DC%2BD1MXivVGlsbg%3D 19275763
-
S Chatterjee JK Pal 2009 Role of 5 and 3 untranslated regions of mRNAs in human diseases Biol Cell 101 251 262 10.1042/BC20080104 1:CAS:528: DC%2BD1MXivVGlsbg%3D 19275763
-
(2009)
Biol Cell
, vol.101
, pp. 251-262
-
-
Chatterjee, S.1
Pal, J.K.2
-
10
-
-
33745728414
-
A systemic analysis of disease-associated variants in the 3 regulatory regions of human protein-coding genes. i General principals and overview
-
10.1007/s00439-006-0180-7 1:CAS:528:DC%2BD28Xms1OjurY%3D 16645853
-
JM Chen C Ferec DN Cooper 2006 A systemic analysis of disease-associated variants in the 3 regulatory regions of human protein-coding genes. I General principals and overview Hum Genet 120 1 21 10.1007/s00439-006-0180-7 1:CAS:528:DC%2BD28Xms1OjurY%3D 16645853
-
(2006)
Hum Genet
, vol.120
, pp. 1-21
-
-
Chen, J.M.1
Ferec, C.2
Cooper, D.N.3
-
11
-
-
33748747485
-
A systemic analysis of disease-associated variants in the 3 regulatory regions of human protein coding genes. II. The importance of mRNA secondary structure in assessing the functionality of 3UTR variants
-
10.1007/s00439-006-0218-x 1:CAS:528:DC%2BD28Xps1Ort7g%3D 16807757
-
JM Chen C Ferec DN Cooper 2006 A systemic analysis of disease-associated variants in the 3 regulatory regions of human protein coding genes. II. The importance of mRNA secondary structure in assessing the functionality of 3UTR variants Hum Genet 120 301 333 10.1007/s00439-006-0218-x 1:CAS:528: DC%2BD28Xps1Ort7g%3D 16807757
-
(2006)
Hum Genet
, vol.120
, pp. 301-333
-
-
Chen, J.M.1
Ferec, C.2
Cooper, D.N.3
-
12
-
-
33748934196
-
Penetrance of mutations with plakophilin-2 among families with arrhythmogenic right ventricular cardiomyopathy
-
10.1016/j.jacc.2006.06.045 1:CAS:528:DC%2BD28XhtVagtb7O 17010805
-
D Dalal C James R Devanagondi C Tichnell A Tucker K Prakasa PJ Spevak DA Bluemke T Abraham SD Russell H Calkins DP Judge 2006 Penetrance of mutations with plakophilin-2 among families with arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 48 1416 1424 10.1016/j.jacc.2006.06.045 1:CAS:528:DC%2BD28XhtVagtb7O 17010805
-
(2006)
J Am Coll Cardiol
, vol.48
, pp. 1416-1424
-
-
Dalal, D.1
James, C.2
Devanagondi, R.3
Tichnell, C.4
Tucker, A.5
Prakasa, K.6
Spevak, P.J.7
Bluemke, D.A.8
Abraham, T.9
Russell, S.D.10
Calkins, H.11
Judge, D.P.12
-
13
-
-
62549150409
-
Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations
-
Epub ahead of print
-
Fidler LM, Wilson GJ, Liu F, Cui X, Scherer SW, Taylor GP, Hamilton RM (2008) Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med [Epub ahead of print]
-
(2008)
J Cell Mol Med
-
-
Fidler, L.M.1
Wilson, G.J.2
Liu, F.3
Cui, X.4
Scherer, S.W.5
Taylor, G.P.6
Hamilton, R.M.7
-
14
-
-
0035834424
-
Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1
-
10.1016/S0014-5793(01)03020-4 1:CAS:528:DC%2BD3MXot1Omtrk%3D 11707266
-
S Gaillard M Bartoli F Castets A Monneron 2001 Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1 FEBS Lett 508 49 52 10.1016/S0014-5793(01)03020-4 1:CAS:528:DC%2BD3MXot1Omtrk%3D 11707266
-
(2001)
FEBS Lett
, vol.508
, pp. 49-52
-
-
Gaillard, S.1
Bartoli, M.2
Castets, F.3
Monneron, A.4
-
15
-
-
33144483583
-
Targeting of proteins of the Striatin family to dendritic spines: Role of the coiled-coil domain
-
10.1111/j.1600-0854.2005.00363.x 1:CAS:528:DC%2BD28XhvFyhs70%3D 16445688
-
S Gaillard Y Bailly M Benoist T Rakitina JP Kessler L Fronzaroli-Molinières B Dargent F Castets 2006 Targeting of proteins of the Striatin family to dendritic spines: role of the coiled-coil domain Traffic 7 74 84 10.1111/j.1600-0854.2005.00363.x 1:CAS:528:DC%2BD28XhvFyhs70%3D 16445688
-
(2006)
Traffic
, vol.7
, pp. 74-84
-
-
Gaillard, S.1
Bailly, Y.2
Benoist, M.3
Rakitina, T.4
Kessler, J.P.5
Fronzaroli-Molinières, L.6
Dargent, B.7
Castets, F.8
-
16
-
-
0025771428
-
Boxer cardiomyopathy
-
1:STN:280:DyaK38%2Fls1ersA%3D%3D 1949503
-
NK Harpster 1991 Boxer cardiomyopathy Vet Clin North Am Small Anim Pract 21 989 1004 1:STN:280:DyaK38%2Fls1ersA%3D%3D 1949503
-
(1991)
Vet Clin North Am Small Anim Pract
, vol.21
, pp. 989-1004
-
-
Harpster, N.K.1
-
17
-
-
61349136209
-
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: A not so rare "disease of the desmosome" with multiple clinical presentations
-
10.1007/s00392-009-0751-4 19205777
-
T Herren PA Gerber F Duru 2009 Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations Clin Res Cardiol 98 141 158 10.1007/s00392-009-0751-4 19205777
-
(2009)
Clin Res Cardiol
, vol.98
, pp. 141-158
-
-
Herren, T.1
Gerber, P.A.2
Duru, F.3
-
18
-
-
0348108331
-
Analysis of genetic variation in 28 dog breed populations with 100 microsatellite markers
-
10.1093/jhered/esg004 1:CAS:528:DC%2BD3sXktVWhu7Y%3D
-
DN Irion AL Schaffer TR Famula ML Eggleston SS Hughes NC Pedersen 2003 Analysis of genetic variation in 28 dog breed populations with 100 microsatellite markers J Heredity 94 81 87 10.1093/jhered/esg004 1:CAS:528:DC%2BD3sXktVWhu7Y%3D
-
(2003)
J Heredity
, vol.94
, pp. 81-87
-
-
Irion, D.N.1
Schaffer, A.L.2
Famula, T.R.3
Eggleston, M.L.4
Hughes, S.S.5
Pedersen, N.C.6
-
19
-
-
35648953308
-
Efficient mapping of mendelian traits in dogs through genome-wide association
-
10.1038/ng.2007.10 1:CAS:528:DC%2BD2sXht1aqu77I 17906626
-
EK Karlsson I Baranowska CM Wade NH Salmon Hillbertz MC Zody N Anderson TM Biagi N Patterson GR Pielberg, et al. 2007 Efficient mapping of mendelian traits in dogs through genome-wide association Nat Genet 39 1321 1328 10.1038/ng.2007.10 1:CAS:528:DC%2BD2sXht1aqu77I 17906626
-
(2007)
Nat Genet
, vol.39
, pp. 1321-1328
-
-
Karlsson, E.K.1
Baranowska, I.2
Wade, C.M.3
Salmon Hillbertz, N.H.4
Zody, M.C.5
Anderson, N.6
Biagi, T.M.7
Patterson, N.8
Pielberg, G.R.9
-
21
-
-
0034096255
-
Nine polymorphisms within head and hinge region of the feline cardiac B-myosin heavy chain gene
-
1:CAS:528:DC%2BD3cXkvFOgtb4%3D 10895319
-
KM Meurs M Kittleson E Spangler WA Ware 2000 Nine polymorphisms within head and hinge region of the feline cardiac B-myosin heavy chain gene Anim Genet 31 231 1:CAS:528:DC%2BD3cXkvFOgtb4%3D 10895319
-
(2000)
Anim Genet
, vol.31
, pp. 231
-
-
Meurs, K.M.1
Kittleson, M.2
Spangler, E.3
Ware, W.A.4
-
22
-
-
0035872074
-
Use of ambulatory electrocardiography for detection of ventricular premature complexes in healthy dogs
-
10.2460/javma.2001.218.1291 1:STN:280:DC%2BD38%2FgvVSktg%3D%3D 11330615
-
KM Meurs AW Spier NA Wright RL Hamlin 2001 Use of ambulatory electrocardiography for detection of ventricular premature complexes in healthy dogs J Am Vet Med Assoc 218 1291 1292 10.2460/javma.2001.218.1291 1:STN:280:DC%2BD38%2FgvVSktg%3D%3D 11330615
-
(2001)
J Am Vet Med Assoc
, vol.218
, pp. 1291-1292
-
-
Meurs, K.M.1
Spier, A.W.2
Wright, N.A.3
Hamlin, R.L.4
-
23
-
-
37249063683
-
Desmosomal gene evaluation in boxers with arrhythmogenic right ventricular cardiomyopathy
-
10.2460/ajvr.68.12.1338 1:CAS:528:DC%2BD2sXhsVygsrbL 18052738
-
KM Meurs MM Ederer JA Stern 2007 Desmosomal gene evaluation in boxers with arrhythmogenic right ventricular cardiomyopathy Am J Vet Res 68 1338 1341 10.2460/ajvr.68.12.1338 1:CAS:528:DC%2BD2sXhsVygsrbL 18052738
-
(2007)
Am J Vet Res
, vol.68
, pp. 1338-1341
-
-
Meurs, K.M.1
Ederer, M.M.2
Stern, J.A.3
-
24
-
-
34547755668
-
PLINK: A tool set for whole genome association and population-based linkage analysis
-
S Purcell B Neale K Todd-Brown L Thomas MA Ferreira D Bender J Maller P Sklar PI de Bakker MJ Daly PC Sham 2007 PLINK: a tool set for whole genome association and population-based linkage analysis Am J Hum Genet 15 263 265
-
(2007)
Am J Hum Genet
, vol.15
, pp. 263-265
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
De Bakker, P.I.9
Daly, M.J.10
Sham, P.C.11
-
25
-
-
0001813139
-
Primer 3 on the WWW for general users and for biologist programmers
-
S.A. Krawetz S. Misener (eds). Humana Press New Jersey
-
Rozen S, Skaletsky HJ (2003) Primer 3 on the WWW for general users and for biologist programmers. In: Krawetz SA, Misener S (eds) Bioinformatics methods and protocols: methods in molecular biology. Humana Press, New Jersey, pp 365-386
-
(2003)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.J.2
-
26
-
-
27744570444
-
Genetics of right ventricular cardiomyopathy
-
10.1111/j.1540-8167.2005.40842.x 16101641
-
S Sen-Chowdhry P Syrris WJ McKenna 2005 Genetics of right ventricular cardiomyopathy J Cardiovasc Electrophysiol 16 927 935 10.1111/j.1540-8167.2005. 40842.x 16101641
-
(2005)
J Cardiovasc Electrophysiol
, vol.16
, pp. 927-935
-
-
Sen-Chowdhry, S.1
Syrris, P.2
McKenna, W.J.3
-
27
-
-
35548997132
-
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular cardiomyopathy
-
10.1016/j.jacc.2007.08.008 1:CAS:528:DC%2BD2sXht1Glur%2FL 17980246
-
S Sen-Chowdhry P Syrris WJ McKenna 2007 Role of genetic analysis in the management of patients with arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 50 1813 1821 10.1016/j.jacc.2007.08.008 1:CAS:528: DC%2BD2sXht1Glur%2FL 17980246
-
(2007)
J Am Coll Cardiol
, vol.50
, pp. 1813-1821
-
-
Sen-Chowdhry, S.1
Syrris, P.2
McKenna, W.J.3
-
28
-
-
77951888116
-
Arrhythmogenic cardiomyopathy: Etiology, diagnosis and treatment
-
10.1146/annurev.med.052208.130419 1:CAS:528:DC%2BC3cXisFylsLc%3D 20059337
-
S Sen-Chowdhry RD Morgan JC Chambers WJ McKenna 2010 Arrhythmogenic cardiomyopathy: etiology, diagnosis and treatment Annu Rev Med 61 233 253 10.1146/annurev.med.052208.130419 1:CAS:528:DC%2BC3cXisFylsLc%3D 20059337
-
(2010)
Annu Rev Med
, vol.61
, pp. 233-253
-
-
Sen-Chowdhry, S.1
Morgan, R.D.2
Chambers, J.C.3
McKenna, W.J.4
-
29
-
-
34249657898
-
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: A genotype-phenotype characterization of familial disease
-
10.1093/eurheartj/ehl380 1:CAS:528:DC%2BD2sXkslymurg%3D 17105751
-
P Syrris D Ward A Asimaki A Evans S Sen-Chowdhry SE Hughes WJ McKenna 2007 Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease Eur Heart J 28 581 588 10.1093/eurheartj/ehl380 1:CAS:528:DC%2BD2sXkslymurg%3D 17105751
-
(2007)
Eur Heart J
, vol.28
, pp. 581-588
-
-
Syrris, P.1
Ward, D.2
Asimaki, A.3
Evans, A.4
Sen-Chowdhry, S.5
Hughes, S.E.6
McKenna, W.J.7
-
30
-
-
69549138124
-
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
10.1002/humu.21064 19569224
-
PA van der Zwaag JDH Jongbloed MP van der Berg JJ van der Smagt R Jongbloed H Bikker RM Hofstra JP van Tintelen 2009 A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy Hum Mutat 30 1278 1283 10.1002/humu.21064 19569224
-
(2009)
Hum Mutat
, vol.30
, pp. 1278-1283
-
-
Van Der Zwaag, P.A.1
Jongbloed, J.D.H.2
Van Der Berg, M.P.3
Van Der Smagt, J.J.4
Jongbloed, R.5
Bikker, H.6
Hofstra, R.M.7
Van Tintelen, J.P.8
-
31
-
-
20144376345
-
Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification
-
10.1093/bioinformatics/bti042 1:CAS:528:DC%2BD2MXhslSlt7c%3D 15388519
-
I Yanai H Benjamin M Shmoish V Chalifa-Caspi M Shklar R Ophir A Bar-Even S Horn-Saban M Safran E Domany D Lancet O Shmueli 2005 Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification Bioinformatics 21 650 659 10.1093/bioinformatics/bti042 1:CAS:528:DC%2BD2MXhslSlt7c%3D 15388519
-
(2005)
Bioinformatics
, vol.21
, pp. 650-659
-
-
Yanai, I.1
Benjamin, H.2
Shmoish, M.3
Chalifa-Caspi, V.4
Shklar, M.5
Ophir, R.6
Bar-Even, A.7
Horn-Saban, S.8
Safran, M.9
Domany, E.10
Lancet, D.11
Shmueli, O.12
|