-
2
-
-
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
-
3
-
-
0029002969
-
A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
-
Sanguinetti M.C., Jiang C., Curran M.E., Keating M.T. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 1995, 81:299-307.
-
(1995)
Cell
, vol.81
, pp. 299-307
-
-
Sanguinetti, M.C.1
Jiang, C.2
Curran, M.E.3
Keating, M.T.4
-
4
-
-
0029007356
-
HERG, a human inward rectifier in the voltage-gated potassium channel family
-
Trudeau M.C., Warmke J.W., Ganetzky B., Robertson G.A. HERG, a human inward rectifier in the voltage-gated potassium channel family. Science 1995, 269:92-95.
-
(1995)
Science
, vol.269
, pp. 92-95
-
-
Trudeau, M.C.1
Warmke, J.W.2
Ganetzky, B.3
Robertson, G.A.4
-
5
-
-
0031982513
-
Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature
-
Zhou Z., Gong Q., Ye B., Fan Z., Makielski J.C., Robertson G.A., et al. Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature. Biophys J 1998, 74:230-241.
-
(1998)
Biophys J
, vol.74
, pp. 230-241
-
-
Zhou, Z.1
Gong, Q.2
Ye, B.3
Fan, Z.4
Makielski, J.C.5
Robertson, G.A.6
-
6
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S., Robinson J.L., 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
Shen, J.2
Timothy, K.W.3
Lehmann, M.H.4
Priori, S.5
Robinson, J.L.6
-
7
-
-
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
-
8
-
-
29144494740
-
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice
-
Napolitano C., Priori S.G., Schwartz P.J., Bloise R., Ronchetti E., Nastoli J., 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
Priori, S.G.2
Schwartz, P.J.3
Bloise, R.4
Ronchetti, E.5
Nastoli, J.6
-
9
-
-
33747140711
-
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
-
Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P., Kugener B., et al. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet 2006, 70:214-227.
-
(2006)
Clin Genet
, vol.70
, pp. 214-227
-
-
Millat, G.1
Chevalier, P.2
Restier-Miron, L.3
Da Costa, A.4
Bouvagnet, P.5
Kugener, B.6
-
10
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2, 500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L., Harris-Kerr C., Pollevick G.D., et al. Spectrum and prevalence of mutations from the first 2, 500 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
Tester, D.J.2
Salisbury, B.A.3
Carr, J.L.4
Harris-Kerr, C.5
Pollevick, G.D.6
-
11
-
-
71849098104
-
Genotype-phenotype aspects of type 2 long QT syndrome
-
Shimizu W., Moss A.J., Wilde A.A., Towbin J.A., Ackerman M.J., January C.T., et al. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol 2009, 54:2052-2062.
-
(2009)
J Am Coll Cardiol
, vol.54
, pp. 2052-2062
-
-
Shimizu, W.1
Moss, A.J.2
Wilde, A.A.3
Towbin, J.A.4
Ackerman, M.J.5
January, C.T.6
-
12
-
-
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
-
13
-
-
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., Amin A.S., Ghamdi S.A., Carvalho J.S., 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
Momenah, T.S.2
Gong, Q.3
Amin, A.S.4
Ghamdi, S.A.5
Carvalho, J.S.6
-
14
-
-
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. Eur J Hum Genet 2006, 14:1074-1081.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
15
-
-
3542995089
-
Nonsense-mediated decay approaches the clinic
-
Holbrook J.A., Neu-Yilik G., Hentze M.W., Kulozik A.E. Nonsense-mediated decay approaches the clinic. Nat Genet 2004, 36:801-808.
-
(2004)
Nat Genet
, vol.36
, pp. 801-808
-
-
Holbrook, J.A.1
Neu-Yilik, G.2
Hentze, M.W.3
Kulozik, A.E.4
-
16
-
-
33746889124
-
Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts
-
Usuki F., Yamashita A., Kashima I., Higuchi I., Osame M., Ohno S. Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. Mol Ther 2006, 14:351-360.
-
(2006)
Mol Ther
, vol.14
, pp. 351-360
-
-
Usuki, F.1
Yamashita, A.2
Kashima, I.3
Higuchi, I.4
Osame, M.5
Ohno, S.6
-
17
-
-
67349190240
-
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?
-
Bhuiyan Z.A., Al-Shahrani S., Al-Khadra A.S., Al-Ghamdi S., Al-Khalaf K., Mannens M.M., et al. Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?. Pediatr Cardiol 2009, 30:490-501.
-
(2009)
Pediatr Cardiol
, vol.30
, pp. 490-501
-
-
Bhuiyan, Z.A.1
Al-Shahrani, S.2
Al-Khadra, A.S.3
Al-Ghamdi, S.4
Al-Khalaf, K.5
Mannens, M.M.6
-
18
-
-
40649127397
-
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
-
Gong Q., Zhang L., Moss A.J., Vincent G.M., Ackerman M.J., Robinson J.C., et al. A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome. J Mol Cell Cardiol 2008, 44:502-509.
-
(2008)
J Mol Cell Cardiol
, vol.44
, pp. 502-509
-
-
Gong, Q.1
Zhang, L.2
Moss, A.J.3
Vincent, G.M.4
Ackerman, M.J.5
Robinson, J.C.6
-
19
-
-
0021078994
-
Plasmid-encoded hygromycin B resistance: the sequence of hygromycin B phosphotransferase gene and its expression in Escherichia coli and Saccharomyces cerevisiae
-
Gritz L., Davies J. Plasmid-encoded hygromycin B resistance: the sequence of hygromycin B phosphotransferase gene and its expression in Escherichia coli and Saccharomyces cerevisiae. Gene 1983, 25:179-188.
-
(1983)
Gene
, vol.25
, pp. 179-188
-
-
Gritz, L.1
Davies, J.2
-
20
-
-
0032516934
-
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects
-
Zhou Z., Gong Q., Epstein M.L., January C.T. HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem 1998, 273:21061-21066.
-
(1998)
J Biol Chem
, vol.273
, pp. 21061-21066
-
-
Zhou, Z.1
Gong, Q.2
Epstein, M.L.3
January, C.T.4
-
21
-
-
70749132676
-
RNA-targeting approaches for neuromuscular diseases
-
Le Roy F., Charton K., Lorson C.L., Richard I. RNA-targeting approaches for neuromuscular diseases. Trends Mol Med 2009, 15:580-591.
-
(2009)
Trends Mol Med
, vol.15
, pp. 580-591
-
-
Le Roy, F.1
Charton, K.2
Lorson, C.L.3
Richard, I.4
-
22
-
-
0031840487
-
At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation
-
Zhang J., Sun X., Qian Y., LaDuca J.P., Maquat L.E. At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation. Mol Cell Biol 1998, 18:5272-5283.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 5272-5283
-
-
Zhang, J.1
Sun, X.2
Qian, Y.3
LaDuca, J.P.4
Maquat, L.E.5
-
23
-
-
19344374029
-
Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species
-
Conti E., Izaurralde E. Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species. Curr Opin Cell Biol 2005, 17:316-325.
-
(2005)
Curr Opin Cell Biol
, vol.17
, pp. 316-325
-
-
Conti, E.1
Izaurralde, E.2
-
24
-
-
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 Mol Med 2006, 12:306-316.
-
(2006)
Trends Mol Med
, vol.12
, pp. 306-316
-
-
Kuzmiak, H.A.1
Maquat, L.E.2
-
25
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer P.A., Dietz H.C. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999, 8:1893-1900.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
27
-
-
0034672093
-
The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
-
Le Hir H., Izaurralde E., Maquat L.E., Moore M.J. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J 2000, 19:6860-6869.
-
(2000)
EMBO J
, vol.19
, pp. 6860-6869
-
-
Le Hir, H.1
Izaurralde, E.2
Maquat, L.E.3
Moore, M.J.4
-
28
-
-
0035823247
-
Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1
-
Lykke-Andersen J., Shu M.D., Steitz J.A. Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 2001, 293:1836-1839.
-
(2001)
Science
, vol.293
, pp. 1836-1839
-
-
Lykke-Andersen, J.1
Shu, M.D.2
Steitz, J.A.3
-
29
-
-
0032104190
-
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
-
Nagy E., Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998, 23:198-199.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 198-199
-
-
Nagy, E.1
Maquat, L.E.2
-
30
-
-
77949904260
-
Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors
-
Nicholson P., Yepiskoposyan H., Metze S., Zamudio Orozco R., Kleinschmidt N., Muhlemann O. Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci 2010, 67:677-700.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 677-700
-
-
Nicholson, P.1
Yepiskoposyan, H.2
Metze, S.3
Zamudio Orozco, R.4
Kleinschmidt, N.5
Muhlemann, O.6
-
31
-
-
0033854425
-
Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy
-
Howard M.T., Shirts B.H., Petros L.M., Flanigan K.M., Gesteland R.F., Atkins J.F. Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 2000, 48:164-169.
-
(2000)
Ann Neurol
, vol.48
, pp. 164-169
-
-
Howard, M.T.1
Shirts, B.H.2
Petros, L.M.3
Flanigan, K.M.4
Gesteland, R.F.5
Atkins, J.F.6
-
32
-
-
54849413018
-
Introducing sense into nonsense in treatments of human genetic diseases
-
Linde L., Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet 2008, 24:552-563.
-
(2008)
Trends Genet
, vol.24
, pp. 552-563
-
-
Linde, L.1
Kerem, B.2
-
33
-
-
62749148294
-
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations
-
Yao Y., Teng S., Li N., Zhang Y., Boyden P.A., Pu J. Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. Heart Rhythm 2009, 6:553-560.
-
(2009)
Heart Rhythm
, vol.6
, pp. 553-560
-
-
Yao, Y.1
Teng, S.2
Li, N.3
Zhang, Y.4
Boyden, P.A.5
Pu, J.6
-
34
-
-
0027284424
-
Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides
-
Dominski Z., Kole R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci USA 1993, 90:8673-8677.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 8673-8677
-
-
Dominski, Z.1
Kole, R.2
-
35
-
-
0033579478
-
Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides
-
Friedman K.J., Kole J., Cohn J.A., Knowles M.R., Silverman L.M., Kole R. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 1999, 274:36193-36199.
-
(1999)
J Biol Chem
, vol.274
, pp. 36193-36199
-
-
Friedman, K.J.1
Kole, J.2
Cohn, J.A.3
Knowles, M.R.4
Silverman, L.M.5
Kole, R.6
-
36
-
-
50549093417
-
Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice
-
Jearawiriyapaisarn N., Moulton H.M., Buckley B., Roberts J., Sazani P., Fucharoen S., et al. Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice. Mol Ther 2008, 16:1624-1629.
-
(2008)
Mol Ther
, vol.16
, pp. 1624-1629
-
-
Jearawiriyapaisarn, N.1
Moulton, H.M.2
Buckley, B.3
Roberts, J.4
Sazani, P.5
Fucharoen, S.6
-
37
-
-
54449095504
-
Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer
-
Wu B., Moulton H.M., Iversen P.L., Jiang J., Li J., Spurney C.F., et al. Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. Proc Natl Acad Sci USA 2008, 105:14814-14819.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 14814-14819
-
-
Wu, B.1
Moulton, H.M.2
Iversen, P.L.3
Jiang, J.4
Li, J.5
Spurney, C.F.6
|