-
1
-
-
20344369068
-
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia
-
Bateman J.F., Wilson R., Freddi S., Lamandé S.R., Savarirayan R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Human Mutation 2005, 25:525-534.
-
(2005)
Human Mutation
, vol.25
, pp. 525-534
-
-
Bateman, J.F.1
Wilson, R.2
Freddi, S.3
Lamandé, S.R.4
Savarirayan, R.5
-
2
-
-
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., 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 2008, 5:553-561.
-
(2008)
Heart Rhythm
, vol.5
, pp. 553-561
-
-
Bhuiyan, Z.A.1
-
3
-
-
33744994837
-
EJC-independent degradation of nonsense immunoglobulin-mu mRNA depends on 3' UTR length
-
Bühler M., Steiner S., Mohn F., Paillusson A., Mühlemann O. EJC-independent degradation of nonsense immunoglobulin-mu mRNA depends on 3' UTR length. Nature Structural and Molecular Biology 2006, 13:462-464.
-
(2006)
Nature Structural and Molecular Biology
, vol.13
, pp. 462-464
-
-
Bühler, M.1
Steiner, S.2
Mohn, F.3
Paillusson, A.4
Mühlemann, O.5
-
4
-
-
0029908912
-
A splicing-dependent regulatory mechanism that detects translation signals
-
Carter M.S., Li S., Wilkinson M.F. A splicing-dependent regulatory mechanism that detects translation signals. EMBO Journal 1996, 15:5965-5975.
-
(1996)
EMBO Journal
, vol.15
, pp. 5965-5975
-
-
Carter, M.S.1
Li, S.2
Wilkinson, M.F.3
-
5
-
-
33749001960
-
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon
-
Choe C.-U., et al. C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon. Human Molecular Genetics 2006, 15:2888-2902.
-
(2006)
Human Molecular Genetics
, vol.15
, pp. 2888-2902
-
-
Choe, C.-U.1
-
6
-
-
55249088583
-
A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope
-
Christé G., et al. A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope. Heart Rhythm 2008, 5:1577-1586.
-
(2008)
Heart Rhythm
, vol.5
, pp. 1577-1586
-
-
Christé, G.1
-
7
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80:795-803.
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
Splawski, I.2
Timothy, K.W.3
Vincent, G.M.4
Green, E.D.5
Keating, M.T.6
-
8
-
-
43249093760
-
Posttranscriptional gene regulation by spatial rearrangement of the 3' untranslated region
-
Eberle A.B., Stalder L., Mathys H., Orozco R.Z., Mühlemann O. Posttranscriptional gene regulation by spatial rearrangement of the 3' untranslated region. PLoS Biology 2008, 6:e92.
-
(2008)
PLoS Biology
, vol.6
-
-
Eberle, A.B.1
Stalder, L.2
Mathys, H.3
Orozco, R.Z.4
Mühlemann, O.5
-
9
-
-
84882269053
-
A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome
-
Gao Y., Zhang P., Li X.-B., Wu C.-C., Guo J.-H. A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome. Chinese Medical Journal 2013, 126:3093-3096.
-
(2013)
Chinese Medical Journal
, vol.126
, pp. 3093-3096
-
-
Gao, Y.1
Zhang, P.2
Li, X.-B.3
Wu, C.-C.4
Guo, J.-H.5
-
10
-
-
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., Zhou Z. Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. Journal of Molecular and Cellular Cardiology 2004, 37:1225-1233.
-
(2004)
Journal of Molecular and Cellular Cardiology
, vol.37
, pp. 1225-1233
-
-
Gong, Q.1
Keeney, D.R.2
Robinson, J.C.3
Zhou, Z.4
-
11
-
-
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., Horne B.D., Zhou Z. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation 2007, 116:17-24.
-
(2007)
Circulation
, vol.116
, pp. 17-24
-
-
Gong, Q.1
Zhang, L.2
Vincent, G.M.3
Horne, B.D.4
Zhou, Z.5
-
12
-
-
77957806896
-
Alternative splicing and polyadenylation contribute to the generation of hERG1 C-terminal isoforms
-
Gong Q., Stump M.R., Dunn A.R., Deng V., Zhou Z. Alternative splicing and polyadenylation contribute to the generation of hERG1 C-terminal isoforms. Journal of Biological Chemistry 2010, 285:32233-32241.
-
(2010)
Journal of Biological Chemistry
, vol.285
, pp. 32233-32241
-
-
Gong, Q.1
Stump, M.R.2
Dunn, A.R.3
Deng, V.4
Zhou, Z.5
-
13
-
-
78650804424
-
Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome
-
Gong Q., Stump M.R., Zhou Z. Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome. Journal of Molecular and Cellular Cardiology 2011, 50:223-229.
-
(2011)
Journal of Molecular and Cellular Cardiology
, vol.50
, pp. 223-229
-
-
Gong, Q.1
Stump, M.R.2
Zhou, Z.3
-
14
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
Kapplinger J.D., et al. Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009, 6:1297-1303.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1297-1303
-
-
Kapplinger, J.D.1
-
15
-
-
33749057696
-
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
-
Khajavi M., Inoue K., Lupski J.R. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. European Journal of Human Genetics 2006, 14:1074-1081.
-
(2006)
European Journal of Human Genetics
, vol.14
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
16
-
-
0035945260
-
Constraints on reinitiation of translation in mammals
-
Kozak M. Constraints on reinitiation of translation in mammals. Nucleic Acids Research 2001, 29:5226-5232.
-
(2001)
Nucleic Acids Research
, vol.29
, pp. 5226-5232
-
-
Kozak, M.1
-
17
-
-
33746224027
-
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges
-
Kuzmiak H.A., Maquat L.E. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends in Molecular Medicine 2006, 12:306-316.
-
(2006)
Trends in Molecular Medicine
, vol.12
, pp. 306-316
-
-
Kuzmiak, H.A.1
Maquat, L.E.2
-
18
-
-
0030614462
-
The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression
-
Li X., Xu J., Li M. The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression. Journal of Biological Chemistry 1997, 272:705-708.
-
(1997)
Journal of Biological Chemistry
, vol.272
, pp. 705-708
-
-
Li, X.1
Xu, J.2
Li, M.3
-
19
-
-
84879920244
-
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
-
Lieve K.V., et al. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic Testing and Molecular Biomarkers 2013, 17:553-561.
-
(2013)
Genetic Testing and Molecular Biomarkers
, vol.17
, pp. 553-561
-
-
Lieve, K.V.1
-
20
-
-
44149101695
-
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome
-
Nagaoka I., et al. Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circulation Journal 2008, 72:694-699.
-
(2008)
Circulation Journal
, vol.72
, pp. 694-699
-
-
Nagaoka, I.1
-
21
-
-
29144494740
-
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice
-
Napolitano C., et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005, 294:2975-2980.
-
(2005)
JAMA
, vol.294
, pp. 2975-2980
-
-
Napolitano, C.1
-
22
-
-
77953680594
-
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death
-
Nof E., et al. A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circulation. Cardiovascular Genetics 2010, 3:199-206.
-
(2010)
Circulation. Cardiovascular Genetics
, vol.3
, pp. 199-206
-
-
Nof, E.1
-
23
-
-
22544463135
-
HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency
-
Paulussen A.D.C., et al. HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency. Cardiovascular Research 2005, 67:467-475.
-
(2005)
Cardiovascular Research
, vol.67
, pp. 467-475
-
-
Paulussen, A.D.C.1
-
25
-
-
43249084802
-
A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay
-
Singh G., Rebbapragada I., Lykke-Andersen J. A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay. PLoS Biology 2008, 6:e111.
-
(2008)
PLoS Biology
, vol.6
-
-
Singh, G.1
Rebbapragada, I.2
Lykke-Andersen, J.3
-
26
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski I., et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102:1178-1185.
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
-
27
-
-
84864465993
-
Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome
-
Stump M.R., Gong Q., Zhou Z. Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome. PLoS ONE 2012, 7:e42552.
-
(2012)
PLoS ONE
, vol.7
-
-
Stump, M.R.1
Gong, Q.2
Zhou, Z.3
-
28
-
-
84867403969
-
Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation
-
Stump M.R., Gong Q., Packer J.D., Zhou Z. Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation. Journal of Molecular and Cellular Cardiology 2012, 53:725-733.
-
(2012)
Journal of Molecular and Cellular Cardiology
, vol.53
, pp. 725-733
-
-
Stump, M.R.1
Gong, Q.2
Packer, J.D.3
Zhou, Z.4
-
30
-
-
67651085257
-
A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family
-
Sun Y., et al. A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family. Scandinavian Cardiovascular Journal 2009, 43:181-186.
-
(2009)
Scandinavian Cardiovascular Journal
, vol.43
, pp. 181-186
-
-
Sun, Y.1
-
31
-
-
17144415220
-
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
-
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005, 2:507-517.
-
(2005)
Heart Rhythm
, vol.2
, pp. 507-517
-
-
Tester, D.J.1
Will, M.L.2
Haglund, C.M.3
Ackerman, M.J.4
-
32
-
-
84855493896
-
HERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome
-
Trudeau M.C., Leung L.M., Roti E.R., Robertson G.A. hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome. Journal of General Physiology 2011, 138:581-592.
-
(2011)
Journal of General Physiology
, vol.138
, pp. 581-592
-
-
Trudeau, M.C.1
Leung, L.M.2
Roti, E.R.3
Robertson, G.A.4
-
33
-
-
79960805106
-
Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome
-
Zarraga I.G., Zhang L., Stump M.R., Gong Q., Vincent G.M., Zhou Z. Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome. Heart Rhythm 2011, 8:1200-1206.
-
(2011)
Heart Rhythm
, vol.8
, pp. 1200-1206
-
-
Zarraga, I.G.1
Zhang, L.2
Stump, M.R.3
Gong, Q.4
Vincent, G.M.5
Zhou, Z.6
|