-
1
-
-
33645798617
-
The long QT syndrome family of cardiac ion channelopathies: a HuGE review
-
Modell S.M., and Lehmann M.H. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med 8 (2006) 143-155
-
(2006)
Genet Med
, vol.8
, pp. 143-155
-
-
Modell, S.M.1
Lehmann, M.H.2
-
2
-
-
33751016041
-
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
-
Vatta M., Ackerman M.J., Ye B., et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114 (2006) 2104-2112
-
(2006)
Circulation
, vol.114
, pp. 2104-2112
-
-
Vatta, M.1
Ackerman, M.J.2
Ye, B.3
-
3
-
-
34447307435
-
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
-
Medeiros-Domingo A., Kaku T., Tester D.J., et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116 (2007) 134-142
-
(2007)
Circulation
, vol.116
, pp. 134-142
-
-
Medeiros-Domingo, A.1
Kaku, T.2
Tester, D.J.3
-
4
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski I., Shen J., Timothy K.W., et al. Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102 (2000) 1178-1185
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
-
5
-
-
33745572947
-
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results
-
Tester D.J., Cronk L.B., Carr J.L., et al. Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm 3 (2006) 815-821
-
(2006)
Heart Rhythm
, vol.3
, pp. 815-821
-
-
Tester, D.J.1
Cronk, L.B.2
Carr, J.L.3
-
6
-
-
33644851751
-
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism
-
Anderson C.L., Delisle B.P., Anson B.D., et al. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation 113 (2006) 365-373
-
(2006)
Circulation
, vol.113
, pp. 365-373
-
-
Anderson, C.L.1
Delisle, B.P.2
Anson, B.D.3
-
7
-
-
0042817907
-
Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C
-
Delisle B.P., Anderson C.L., Balijepalli R.C., et al. Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C. J Biol Chem 278 (2003) 35749-35754
-
(2003)
J Biol Chem
, vol.278
, pp. 35749-35754
-
-
Delisle, B.P.1
Anderson, C.L.2
Balijepalli, R.C.3
-
8
-
-
20144377236
-
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome
-
Rossenbacker T., Mubagwa K., Jongbloed R.J., et al. Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation 111 (2005) 961-968
-
(2005)
Circulation
, vol.111
, pp. 961-968
-
-
Rossenbacker, T.1
Mubagwa, K.2
Jongbloed, R.J.3
-
9
-
-
0037129911
-
Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block
-
Rajamani S., Anderson C.L., Anson B.D., et al. Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. Circulation 105 (2002) 2830-2835
-
(2002)
Circulation
, vol.105
, pp. 2830-2835
-
-
Rajamani, S.1
Anderson, C.L.2
Anson, B.D.3
-
10
-
-
3242717751
-
Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits
-
Gong Q., Anderson C.L., January C.T., et al. Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits. Am J Physiol Heart Circ Physiol 287 (2004) H652-H658
-
(2004)
Am J Physiol Heart Circ Physiol
, vol.287
-
-
Gong, Q.1
Anderson, C.L.2
January, C.T.3
-
11
-
-
0034184070
-
Analysis of the human KCNH2 (HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion
-
Paulussen A., Yang P., Pangalos M., et al. Analysis of the human KCNH2 (HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion. Hum Mutat 15 (2000) 483
-
(2000)
Hum Mutat
, vol.15
, pp. 483
-
-
Paulussen, A.1
Yang, P.2
Pangalos, M.3
-
12
-
-
9644252676
-
Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: additional amino acids generated by frameshift cause accelerated inactivation
-
Sasano T., Ueda K., Orikabe M., et al. Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: additional amino acids generated by frameshift cause accelerated inactivation. J Mol Cell Cardiol 37 (2004) 1205-1211
-
(2004)
J Mol Cell Cardiol
, vol.37
, pp. 1205-1211
-
-
Sasano, T.1
Ueda, K.2
Orikabe, M.3
-
13
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M., Yahav Y., Yaacov Y., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349 (2003) 1433-1441
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
-
14
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
Wagner K.R., Hamed S., Hadley D.W., et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 49 (2001) 706-711
-
(2001)
Ann Neurol
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
Hamed, S.2
Hadley, D.W.3
-
15
-
-
2442527864
-
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
-
Sangkuhl K., Schulz A., Rompler H., et al. Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. Hum Mol Genet 13 (2004) 893-903
-
(2004)
Hum Mol Genet
, vol.13
, pp. 893-903
-
-
Sangkuhl, K.1
Schulz, A.2
Rompler, H.3
-
16
-
-
0022423513
-
Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin
-
Burke J.F., and Mogg A.E. Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 13 (1985) 6265-6272
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 6265-6272
-
-
Burke, J.F.1
Mogg, A.E.2
-
17
-
-
12144286422
-
Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome
-
Teng S., Ma L., Dong Y., et al. Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome. J Mol Med 82 (2004) 189-196
-
(2004)
J Mol Med
, vol.82
, pp. 189-196
-
-
Teng, S.1
Ma, L.2
Dong, Y.3
-
18
-
-
0032538558
-
A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current
-
Kupershmidt S., Snyders D.J., Raes A., et al. A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current. J Biol Chem 273 (1998) 27231-27235
-
(1998)
J Biol Chem
, vol.273
, pp. 27231-27235
-
-
Kupershmidt, S.1
Snyders, D.J.2
Raes, A.3
-
19
-
-
9644290757
-
Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome
-
Gong Q., Keeney D.R., Robinson J.C., et al. Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. J Mol Cell Cardiol 37 (2004) 1225-1233
-
(2004)
J Mol Cell Cardiol
, vol.37
, pp. 1225-1233
-
-
Gong, Q.1
Keeney, D.R.2
Robinson, J.C.3
-
20
-
-
0037415755
-
C-terminal domains implicated in the functional surface expression of potassium channels
-
Jenke M., Sanchez A., Monje F., et al. C-terminal domains implicated in the functional surface expression of potassium channels. EMBO J 22 (2003) 395-403
-
(2003)
EMBO J
, vol.22
, pp. 395-403
-
-
Jenke, M.1
Sanchez, A.2
Monje, F.3
-
21
-
-
0141891112
-
Identification of a COOH-terminal segment involved in maturation and stability of human ether-a-go-go-related gene potassium channels
-
Akhavan A., Atanasiu R., and Shrier A. Identification of a COOH-terminal segment involved in maturation and stability of human ether-a-go-go-related gene potassium channels. J Biol Chem 278 (2003) 40105-40112
-
(2003)
J Biol Chem
, vol.278
, pp. 40105-40112
-
-
Akhavan, A.1
Atanasiu, R.2
Shrier, A.3
-
22
-
-
0035396969
-
Functional characterization of the C-terminus of the human ether-à-go-go-related gene K(+) channel (HERG)
-
Aydar E., and Palmer C. Functional characterization of the C-terminus of the human ether-à-go-go-related gene K(+) channel (HERG). J Physiol 534 (2001) 1-14
-
(2001)
J Physiol
, vol.534
, pp. 1-14
-
-
Aydar, E.1
Palmer, C.2
-
23
-
-
23744494441
-
Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization
-
Akhavan A., Atanasiu R., Noguchi T., et al. Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization. J Cell Sci 118 (2005) 2803-2812
-
(2005)
J Cell Sci
, vol.118
, pp. 2803-2812
-
-
Akhavan, A.1
Atanasiu, R.2
Noguchi, T.3
-
24
-
-
40849097481
-
Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation
-
Bhuiyan Z.A., Momenah T.S., Gong Q., et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 5 (2008) 553-561
-
(2008)
Heart Rhythm
, vol.5
, pp. 553-561
-
-
Bhuiyan, Z.A.1
Momenah, T.S.2
Gong, Q.3
-
25
-
-
55249088583
-
A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope
-
Christe G., Theriault O., Chahine M., et al. A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope. Heart Rhythm 5 (2008) 1577-1586
-
(2008)
Heart Rhythm
, vol.5
, pp. 1577-1586
-
-
Christe, G.1
Theriault, O.2
Chahine, M.3
-
26
-
-
0037178862
-
Defective human ether-a-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus
-
Kupershmidt S., Yang T., Chanthaphaychith S., et al. Defective human ether-a-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus. J Biol Chem 277 (2002) 27442-27448
-
(2002)
J Biol Chem
, vol.277
, pp. 27442-27448
-
-
Kupershmidt, S.1
Yang, T.2
Chanthaphaychith, S.3
-
27
-
-
34347332362
-
Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome
-
Gong Q., Zhang L., Vincent G.M., et al. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation 116 (2007) 17-24
-
(2007)
Circulation
, vol.116
, pp. 17-24
-
-
Gong, Q.1
Zhang, L.2
Vincent, G.M.3
-
28
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
Lai C.H., Chun H.H., Nahas S.A., et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 101 (2004) 15676-15681
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
-
29
-
-
0036847111
-
Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus
-
Schulz A., Sangkuhl K., Lennert T., et al. Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. J Clin Endocrinol Metab 87 (2002) 5247-5257
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 5247-5257
-
-
Schulz, A.1
Sangkuhl, K.2
Lennert, T.3
-
30
-
-
0033929810
-
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
-
Manuvakhova M., Keeling K., and Bedwell D.M. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6 (2000) 1044-1055
-
(2000)
RNA
, vol.6
, pp. 1044-1055
-
-
Manuvakhova, M.1
Keeling, K.2
Bedwell, D.M.3
-
31
-
-
33745635351
-
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation
-
Olson T.M., Alekseev A.E., Liu X.K., et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 15 (2006) 2185-2191
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2185-2191
-
-
Olson, T.M.1
Alekseev, A.E.2
Liu, X.K.3
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