-
1
-
-
77957373124
-
The ryanodine receptor in cardiac physiology and disease
-
A. Kushnir, and A.R. Marks The ryanodine receptor in cardiac physiology and disease Adv. Pharmacol. 59 2010 1 30
-
(2010)
Adv. Pharmacol.
, vol.59
, pp. 1-30
-
-
Kushnir, A.1
Marks, A.R.2
-
2
-
-
84866395344
-
Ryanodine receptors: Structure and function
-
F. Van Petegem Ryanodine receptors: structure and function J. Biol. Chem. 287 2012 31624 31632
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 31624-31632
-
-
Van Petegem, F.1
-
3
-
-
0035895322
-
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
-
S.G. Priori, C. Napolitano, N. Tiso, M. Memmi, G. Vignati, R. Bloise, V. Sorrentino, and G.A. Danieli Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2001 196 200
-
(2001)
Circulation
, vol.103
, pp. 196-200
-
-
Priori, S.G.1
Napolitano, C.2
Tiso, N.3
Memmi, M.4
Vignati, G.5
Bloise, R.6
Sorrentino, V.7
Danieli, G.A.8
-
4
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
S.G. Priori, C. Napolitano, M. Memmi, B. Colombi, F. Drago, M. Gasparini, L. DeSimone, F. Coltorti, R. Bloise, R. Keegan, F.E. Cruz Filho, G. Vignati, A. Benatar, and A. DeLogu Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia Circulation 106 2002 69 74
-
(2002)
Circulation
, vol.106
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
Colombi, B.4
Drago, F.5
Gasparini, M.6
Desimone, L.7
Coltorti, F.8
Bloise, R.9
Keegan, R.10
Cruz Filho, F.E.11
Vignati, G.12
Benatar, A.13
Delogu, A.14
-
5
-
-
0037125396
-
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers
-
B. Bauce, A. Rampazzo, C. Basso, A. Bagattin, L. Daliento, N. Tiso, P. Turrini, G. Thiene, G.A. Danieli, and A. Nava Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers J. Am. Coll. Cardiol. 40 2002 341 349
-
(2002)
J. Am. Coll. Cardiol.
, vol.40
, pp. 341-349
-
-
Bauce, B.1
Rampazzo, A.2
Basso, C.3
Bagattin, A.4
Daliento, L.5
Tiso, N.6
Turrini, P.7
Thiene, G.8
Danieli, G.A.9
Nava, A.10
-
6
-
-
0035253502
-
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
-
N. Tiso, D.A. Stephan, A. Nava, A. Bagattin, J.M. Devaney, F. Stanchi, G. Larderet, B. Brahmbhatt, K. Brown, B. Bauce, M. Muriago, C. Basso, G. Thiene, G.A. Danieli, and A. Rampazzo Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) Hum. Mol. Genet. 10 2001 189 194
-
(2001)
Hum. Mol. Genet.
, vol.10
, 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
-
7
-
-
0023694227
-
Juvenile sudden death and effort ventricular tachycardias in a family with right ventricular cardiomyopathy
-
A. Nava, B. Canciani, L. Daliento, G. Miraglia, G. Buja, G. Fasoli, B. Martini, R. Scognamiglio, and G. Thiene Juvenile sudden death and effort ventricular tachycardias in a family with right ventricular cardiomyopathy Int. J. Cardiol. 21 1988 111 126
-
(1988)
Int. J. Cardiol.
, vol.21
, pp. 111-126
-
-
Nava, A.1
Canciani, B.2
Daliento, L.3
Miraglia, G.4
Buja, G.5
Fasoli, G.6
Martini, B.7
Scognamiglio, R.8
Thiene, G.9
-
8
-
-
0023848617
-
Right ventricular cardiomyopathy and sudden death in young people
-
G. Thiene, A. Nava, D. Corrado, L. Rossi, and N. Pennelli Right ventricular cardiomyopathy and sudden death in young people N. Engl. J. Med. 318 1988 129 133
-
(1988)
N. Engl. J. Med.
, vol.318
, pp. 129-133
-
-
Thiene, G.1
Nava, A.2
Corrado, D.3
Rossi, L.4
Pennelli, N.5
-
9
-
-
7544230111
-
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/coroner's cases
-
D.J. Tester, D.B. Spoon, H.H. Valdivia, J.C. Makielski, and M.J. Ackerman Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases Mayo Clin. Proc. 79 2004 1380 1384
-
(2004)
Mayo Clin. Proc.
, vol.79
, pp. 1380-1384
-
-
Tester, D.J.1
Spoon, D.B.2
Valdivia, H.H.3
Makielski, J.C.4
Ackerman, M.J.5
-
10
-
-
23444460252
-
Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: Evidence of specific morphological substrates
-
G. d'Amati, A. Bagattin, B. Bauce, A. Rampazzo, C. Autore, C. Basso, K. King, M.D. Romeo, P. Gallo, G. Thiene, G.A. Danieli, and A. Nava Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates Hum. Pathol. 36 2005 761 767
-
(2005)
Hum. Pathol.
, vol.36
, pp. 761-767
-
-
D'Amati, G.1
Bagattin, A.2
Bauce, B.3
Rampazzo, A.4
Autore, C.5
Basso, C.6
King, K.7
Romeo, M.D.8
Gallo, P.9
Thiene, G.10
Danieli, G.A.11
Nava, A.12
-
11
-
-
77950470200
-
Accelerated development of pressure overload-induced cardiac hypertrophy and dysfunction in an RyR2-R176Q knockin mouse model
-
R.J. van Oort, J.L. Respress, N. Li, C. Reynolds, A.C. De Almeida, D.G. Skapura, L.J. De Windt, and X.H. Wehrens Accelerated development of pressure overload-induced cardiac hypertrophy and dysfunction in an RyR2-R176Q knockin mouse model Hypertension 55 2010 932 938
-
(2010)
Hypertension
, vol.55
, pp. 932-938
-
-
Van Oort, R.J.1
Respress, J.L.2
Li, N.3
Reynolds, C.4
De Almeida, A.C.5
Skapura, D.G.6
De Windt, L.J.7
Wehrens, X.H.8
-
12
-
-
84885184137
-
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy
-
F.J. Amador, L. Kimlicka, P.B. Stathopulos, G.M. Gasmi-Seabrook, D.H. Maclennan, F. Van Petegem, and M. Ikura Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy J. Mol. Biol. 425 2013 4034 4046
-
(2013)
J. Mol. Biol.
, vol.425
, pp. 4034-4046
-
-
Amador, F.J.1
Kimlicka, L.2
Stathopulos, P.B.3
Gasmi-Seabrook, G.M.4
Maclennan, D.H.5
Van Petegem, F.6
Ikura, M.7
-
13
-
-
33750571687
-
Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus
-
H. Nishio, M. Iwata, and K. Suzuki Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus Circ. J. 70 2006 1402 1406
-
(2006)
Circ. J.
, vol.70
, pp. 1402-1406
-
-
Nishio, H.1
Iwata, M.2
Suzuki, K.3
-
14
-
-
43049157526
-
Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutation
-
H. Nishio, M. Iwata, A. Tamura, T. Miyazaki, K. Tsuboi, and K. Suzuki Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutation Leg. Med. 10 2008 196 200
-
(2008)
Leg. Med.
, vol.10
, pp. 196-200
-
-
Nishio, H.1
Iwata, M.2
Tamura, A.3
Miyazaki, T.4
Tsuboi, K.5
Suzuki, K.6
-
15
-
-
84862832753
-
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies
-
Y. Tang, X. Tian, R. Wang, M. Fill, and S.R. Chen Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies Circ. Res. 110 2012 968 977
-
(2012)
Circ. Res.
, vol.110
, pp. 968-977
-
-
Tang, Y.1
Tian, X.2
Wang, R.3
Fill, M.4
Chen, S.R.5
-
16
-
-
84881475550
-
The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations
-
L. Kimlicka, C.C. Tung, A.C. Carlsson, P.A. Lobo, Z. Yuchi, and F. Van Petegem The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations Structure 21 2013 1440 1449
-
(2013)
Structure
, vol.21
, pp. 1440-1449
-
-
Kimlicka, L.1
Tung, C.C.2
Carlsson, A.C.3
Lobo, P.A.4
Yuchi, Z.5
Van Petegem, F.6
-
17
-
-
84908031370
-
Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: A study using a knock-in mouse model
-
H. Nishio, N. Okudaira, K. Matsushita, T. Yoshimoto, T. Sato, K. Suzuki, Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model, Leg. Med. http://dx.doi.org/10.1016/j.legalmed.2014.06.008.
-
Leg. Med.
-
-
Nishio, H.1
Okudaira, N.2
Matsushita, K.3
Yoshimoto, T.4
Sato, T.5
Suzuki, K.6
-
18
-
-
77954757865
-
Cardioprotection of ischemia/reperfusion injury by cholesterol-dependent MG53-mediated membrane repair
-
X. Wang, W. Xie, Y. Zhang, P. Lin, L. Han, P. Han, Y. Wang, Z. Chen, G. Ji, M. Zheng, N. Weisleder, R.P. Xiao, H. Takeshima, J. Ma, and H. Cheng Cardioprotection of ischemia/reperfusion injury by cholesterol-dependent MG53-mediated membrane repair Circ. Res. 107 2010 76 83
-
(2010)
Circ. Res.
, vol.107
, pp. 76-83
-
-
Wang, X.1
Xie, W.2
Zhang, Y.3
Lin, P.4
Han, L.5
Han, P.6
Wang, Y.7
Chen, Z.8
Ji, G.9
Zheng, M.10
Weisleder, N.11
Xiao, R.P.12
Takeshima, H.13
Ma, J.14
Cheng, H.15
-
19
-
-
34548563994
-
Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation
-
T. Takagi, H. Nishio, T. Yagi, M. Kuwahara, H. Tsubone, N. Tanigawa, and K. Suzuki Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation Exp. Anim. 56 2007 295 300
-
(2007)
Exp. Anim.
, vol.56
, pp. 295-300
-
-
Takagi, T.1
Nishio, H.2
Yagi, T.3
Kuwahara, M.4
Tsubone, H.5
Tanigawa, N.6
Suzuki, K.7
-
20
-
-
84880900195
-
The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains
-
Y. Liu, L. Kimlicka, F. Hiess, X. Tian, R. Wang, L. Zhang, P.P. Jones, F. Van Petegem, and S.R. Chen The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains Biochem. J. 454 2013 123 131
-
(2013)
Biochem. J.
, vol.454
, pp. 123-131
-
-
Liu, Y.1
Kimlicka, L.2
Hiess, F.3
Tian, X.4
Wang, R.5
Zhang, L.6
Jones, P.P.7
Van Petegem, F.8
Chen, S.R.9
-
21
-
-
34848928486
-
Expanding spectrum of human RYR2-related disease: New electrocardiographic, structural, and genetic features
-
Z.A. Bhuiyan, M.P. van Den Berg, J.P. van Tintelen, M.T. Bink-Boelkens, A.C. Wiesfeld, M. Alders, A.V. Postma, I. van Langen, M.M. Mannens, and A.A. Wilde Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features Circulation 116 2007 1569 1576
-
(2007)
Circulation
, vol.116
, pp. 1569-1576
-
-
Bhuiyan, Z.A.1
Van Den Berg, M.P.2
Van Tintelen, J.P.3
Bink-Boelkens, M.T.4
Wiesfeld, A.C.5
Alders, M.6
Postma, A.V.7
Van Langen, I.8
Mannens, M.M.9
Wilde, A.A.10
-
22
-
-
34948816746
-
Association of atrial arrhythmia and sinus node dysfunction in patients with catecholaminergic polymorphic ventricular tachycardia
-
N. Sumitomo, H. Sakurada, K. Taniguchi, M. Matsumura, O. Abe, M. Miyashita, H. Kanamaru, K. Karasawa, M. Ayusawa, S. Fukamizu, I. Nagaoka, M. Horie, K. Harada, and M. Hiraoka Association of atrial arrhythmia and sinus node dysfunction in patients with catecholaminergic polymorphic ventricular tachycardia Circ. J. 71 2007 1606 1609
-
(2007)
Circ. J.
, vol.71
, pp. 1606-1609
-
-
Sumitomo, N.1
Sakurada, H.2
Taniguchi, K.3
Matsumura, M.4
Abe, O.5
Miyashita, M.6
Kanamaru, H.7
Karasawa, K.8
Ayusawa, M.9
Fukamizu, S.10
Nagaoka, I.11
Horie, M.12
Harada, K.13
Hiraoka, M.14
-
23
-
-
84899716524
-
Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor
-
Y. Liu, R. Wang, B. Sun, T. Mi, J. Zhang, Y. Mu, J. Chen, M.J. Bround, J.D. Johnson, A.M. Gillis, and S.R. Chen Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor PLoS One 9 2014 e95615
-
(2014)
PLoS One
, vol.9
, pp. 95615
-
-
Liu, Y.1
Wang, R.2
Sun, B.3
Mi, T.4
Zhang, J.5
Mu, Y.6
Chen, J.7
Bround, M.J.8
Johnson, J.D.9
Gillis, A.M.10
Chen, S.R.11
-
24
-
-
33747072861
-
Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy
-
P.J. Kannankeril, B.M. Mitchell, S.A. Goonasekera, M.G. Chelu, W. Zhang, S. Sood, D.L. Kearney, C.I. Danila, M. De Biasi, X.H. Wehrens, R.G. Pautler, D.M. Roden, G.E. Taffet, R.T. Dirksen, M.E. Anderson, and S.L. Hamilton Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy Proc. Natl. Acad. Sci. USA 103 2006 12179 12184
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 12179-12184
-
-
Kannankeril, P.J.1
Mitchell, B.M.2
Goonasekera, S.A.3
Chelu, M.G.4
Zhang, W.5
Sood, S.6
Kearney, D.L.7
Danila, C.I.8
De Biasi, M.9
Wehrens, X.H.10
Pautler, R.G.11
Roden, D.M.12
Taffet, G.E.13
Dirksen, R.T.14
Anderson, M.E.15
Hamilton, S.L.16
-
25
-
-
20344400985
-
Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor
-
M. Cerrone, B. Colombi, M. Santoro, M.R. di Barletta, M. Scelsi, L. Villani, C. Napolitano, and S.G. Priori Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor Circ. Res. 96 2005 e77 e82
-
(2005)
Circ. Res.
, vol.96
, pp. 77-e82
-
-
Cerrone, M.1
Colombi, B.2
Santoro, M.3
Di Barletta, M.R.4
Scelsi, M.5
Villani, L.6
Napolitano, C.7
Priori, S.G.8
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