-
1
-
-
0037975497
-
Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression
-
Miake J, Marban E, Nuss HB. Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression. J Clin Invest. 2003;111:1529-1536.
-
(2003)
J Clin Invest
, vol.111
, pp. 1529-1536
-
-
Miake, J.1
Marban, E.2
Nuss, H.B.3
-
2
-
-
0037188493
-
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome
-
Preisig-Muller R, Schlichthorl G, Goerge T, Heinen S, Bruggemann A, Rajan S, Derst C, Veh RW, Daut J. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A. 2002;99:7774-7779.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 7774-7779
-
-
Preisig-Muller, R.1
Schlichthorl, G.2
Goerge, T.3
Heinen, S.4
Bruggemann, A.5
Rajan, S.6
Derst, C.7
Veh, R.W.8
Daut, J.9
-
3
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Jr., Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
Donaldson, M.R.7
Iannaccone, S.T.8
Brunt, E.9
Barohn, R.10
Clark, J.11
Deymeer, F.12
George Jr., A.L.13
Fish, F.A.14
Hahn, A.15
Nitu, A.16
Ozdemir, C.17
Serdaroglu, P.18
Subramony, S.H.19
Wolfe, G.20
Fu, Y.H.21
Ptacek, L.J.22
more..
-
4
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110:381-388.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
Sansone, V.4
Meola, G.5
Hahn, A.6
Bendahhou, S.7
Kwiecinski, H.8
Fidzianska, A.9
Plaster, N.10
Fu, Y.H.11
Ptacek, L.J.12
Tawil, R.13
-
5
-
-
0036724842
-
KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes
-
Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George Jr AL, Benson DW. KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes. Am J Hum Genet. 2002;71:663-668.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 663-668
-
-
Andelfinger, G.1
Tapper, A.R.2
Welch, R.C.3
Vanoye, C.G.4
George Jr., A.L.5
Benson, D.W.6
-
6
-
-
0037072306
-
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome
-
Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology. 2002;59:466.
-
(2002)
Neurology
, vol.59
, pp. 466
-
-
Junker, J.1
Haverkamp, W.2
Schulze-Bahr, E.3
Eckardt, L.4
Paulus, W.5
Kiefer, R.6
-
7
-
-
0037777713
-
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
-
Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptacek LJ. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003;60:1811-1816.
-
(2003)
Neurology
, vol.60
, pp. 1811-1816
-
-
Donaldson, M.R.1
Jensen, J.L.2
Tristani-Firouzi, M.3
Tawil, R.4
Bendahhou, S.5
Suarez, W.A.6
Cobo, A.M.7
Poza, J.J.8
Behr, E.9
Wagstaff, J.10
Szepetowski, P.11
Pereira, S.12
Mozaffar, T.13
Escolar, D.M.14
Fu, Y.H.15
Ptacek, L.J.16
-
8
-
-
20244364402
-
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
-
Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, Raffaele dB, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005;96:800-807.
-
(2005)
Circ Res
, vol.96
, pp. 800-807
-
-
Priori, S.G.1
Pandit, S.V.2
Rivolta, I.3
Berenfeld, O.4
Ronchetti, E.5
Dhamoon, A.6
Napolitano, C.7
Anumonwo, J.8
Raffaele, D.B.9
Gudapakkam, S.10
Bosi, G.11
Stramba-Badiale, M.12
Jalife, J.13
-
10
-
-
0346727397
-
Sudden death associated with short-QT syndrome linked to mutations in HERG
-
Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004;109:30-35.
-
(2004)
Circulation
, vol.109
, pp. 30-35
-
-
Brugada, R.1
Hong, K.2
Dumaine, R.3
Cordeiro, J.4
Gaita, F.5
Borggrefe, M.6
Menendez, T.M.7
Brugada, J.8
Pollevick, G.D.9
Wolpert, C.10
Burashnikov, E.11
Matsuo, K.12
Wu, Y.S.13
Guerchicoff, A.14
Bianchi, F.15
Giustetto, C.16
Schimpf, R.17
Brugada, P.18
Antzelevitch, C.19
-
11
-
-
2542491002
-
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
-
Bellocq C, van Ginneken ACG, Bezzina CR, Alders M, Escande D, Mannens MMAM, Baro I, Wilde AAM. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004;109:2394-2397.
-
(2004)
Circulation
, vol.109
, pp. 2394-2397
-
-
Bellocq, C.1
Van Ginneken, A.C.G.2
Bezzina, C.R.3
Alders, M.4
Escande, D.5
Mannens, M.M.A.M.6
Baro, I.7
Wilde, A.A.M.8
|