메뉴 건너뛰기




Volumn 2, Issue 3-4, 2008, Pages 55-67

In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)

Author keywords

3' UTR; 5' UTR; Haplotype tag SNPs; Long QT syndrome; Non synonymous SNP; Polyphen; SIFT

Indexed keywords


EID: 68049143486     PISSN: 18717934     EISSN: 18717942     Source Type: Journal    
DOI: 10.1007/s11568-009-9027-3     Document Type: Review
Times cited : (4)

References (87)
  • 1
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia
    • 10.1016/S0092-8674(00)80728-X
    • GW Abbott F Sesti I Splawski 1999 MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia Cell 97 175 187 10.1016/S0092-8674(00)80728-X
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 2
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
    • 10.1093/nar/25.17.3389
    • SF Altschul TL Madden A Schaffer 1997 Gapped BLAST and PSI-BLAST: a new generation of protein database search programs Nucleic Acids Res 25 3389 3402 10.1093/nar/25.17.3389
    • (1997) Nucleic Acids Res , vol.25 , pp. 3389-3402
    • Altschul, S.F.1    Madden, T.L.2    Schaffer, A.3
  • 3
    • 0029952101 scopus 로고    scopus 로고
    • KvLQT1 and IsK (mink) proteins associate to form the Iks cardiac potassium current
    • 10.1038/384078a0
    • J Barhanin F Lesage E Guillemare 1996 KvLQT1 and IsK (mink) proteins associate to form the Iks cardiac potassium current Nature 384 78 80 10.1038/384078a0
    • (1996) Nature , vol.384 , pp. 78-80
    • Barhanin, J.1    Lesage, F.2    Guillemare, E.3
  • 4
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • 10.1093/bioinformatics/bth457
    • JC Barrett B Fry J Maller MJ Daly 2005 Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 263 265 10.1093/bioinformatics/bth457
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 5
    • 0001127258 scopus 로고
    • An analysis of the time relationship of electrocardiograms
    • HC Bazett 1920 An analysis of the time relationship of electrocardiograms Heart 7 353 370
    • (1920) Heart , vol.7 , pp. 353-370
    • Bazett, H.C.1
  • 8
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • 10.1038/10290
    • M Cargill D Altshuler J Ireland 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes Nat Genet 22 231 238 10.1038/10290
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3
  • 9
    • 0028914969 scopus 로고
    • A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    • 10.1016/0092-8674(95)90358-5
    • ME Curran I Splawski KW Timothy 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome Cell 80 795 803 10.1016/0092-8674(95)90358-5
    • (1995) Cell , vol.80 , pp. 795-803
    • Curran, M.E.1    Splawski, I.2    Timothy, K.W.3
  • 10
    • 31144469134 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • 10.1038/nrg1767
    • L Feuk AR Carson SW Scherer 2006 Structural variation in the human genome Nat Rev Genet 7 85 97 10.1038/nrg1767
    • (2006) Nat Rev Genet , vol.7 , pp. 85-97
    • Feuk, L.1    Carson, A.R.2    Scherer, S.W.3
  • 11
    • 3543040014 scopus 로고    scopus 로고
    • Complex SNP-related sequence variation in segmental genome duplications
    • 10.1038/ng1401
    • D Fredman SJ White S Potter 2004 Complex SNP-related sequence variation in segmental genome duplications Nat Genet 36 861 866 10.1038/ng1401
    • (2004) Nat Genet , vol.36 , pp. 861-866
    • Fredman, D.1    White, S.J.2    Potter, S.3
  • 12
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: New insights in genome diversity
    • 10.1101/gr.3677206
    • JL Freeman HP George Lars Feuk 2006 Copy number variation: new insights in genome diversity Genome Res 16 949 961 10.1101/gr.3677206
    • (2006) Genome Res , vol.16 , pp. 949-961
    • Freeman, J.L.1    George, H.P.2    Lars, F.3
  • 14
    • 79959503826 scopus 로고    scopus 로고
    • The international HapMap project
    • 10.1038/nature02168
    • RAJW Gibbs P Belmont TD Hardenbol 2003 The international HapMap project Nature 426 789 796 10.1038/nature02168
    • (2003) Nature , vol.426 , pp. 789-796
    • Rajw, G.1    Belmont, P.2    Hardenbol, T.D.3
  • 15
    • 33646226097 scopus 로고
    • Linkage disequilibrium in finite populations
    • 10.1007/BF01245622
    • WG Hill A Robertson 1968 Linkage disequilibrium in finite populations Theor Appl Genet 38 226 231 10.1007/BF01245622
    • (1968) Theor Appl Genet , vol.38 , pp. 226-231
    • Hill, W.G.1    Robertson, A.2
  • 16
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • 10.1038/ng1416
    • AJ Iafrate L Feuk MN Rivera 2004 Detection of large-scale variation in the human genome Nat Genet 36 949 951 10.1038/ng1416
    • (2004) Nat Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 17
    • 39749197456 scopus 로고    scopus 로고
    • Genotype, haplotype and copy-number variation in worldwide human populations
    • 10.1038/nature06742
    • M Jakobsson SW Scholz P Scheet 2008 Genotype, haplotype and copy-number variation in worldwide human populations Nature 451 998 1003 10.1038/nature06742
    • (2008) Nature , vol.451 , pp. 998-1003
    • Jakobsson, M.1    Scholz, S.W.2    Scheet, P.3
  • 18
    • 0034303612 scopus 로고    scopus 로고
    • Neuronal KCNQ potassium channels: Physiology and role in disease
    • 10.1038/35036198
    • TJ Jentsch 2000 Neuronal KCNQ potassium channels: physiology and role in disease Nat Rev Neurosci 1 21 30 10.1038/35036198
    • (2000) Nat Rev Neurosci , vol.1 , pp. 21-30
    • Jentsch, T.J.1
  • 19
    • 0028101967 scopus 로고
    • Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
    • 10.1038/ng1094-141
    • C Jiang D Atkinson JA Towbin 1994 Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity Nat Genet 8 141 147 10.1038/ng1094-141
    • (1994) Nat Genet , vol.8 , pp. 141-147
    • Jiang, C.1    Atkinson, D.2    Towbin, J.A.3
  • 20
    • 0034789532 scopus 로고    scopus 로고
    • High-resolution haplotype structure in the human genome
    • GCL Johnson L Esposito BJ Barratt 2001 High-resolution haplotype structure in the human genome Nat Genet 29 233 237
    • (2001) Nat Genet , vol.29 , pp. 233-237
    • Johnson, G.C.L.1    Esposito, L.2    Barratt, B.J.3
  • 21
    • 0035376721 scopus 로고    scopus 로고
    • Human muscle voltage-gated ion channels and hereditary disease
    • 10.1016/S1471-4892(01)00050-9
    • K Jurkat-Rott F Lehmann-Horn 2001 Human muscle voltage-gated ion channels and hereditary disease Curr Opin Pharmacol 1 280 287 10.1016/S1471-4892(01) 00050-9
    • (2001) Curr Opin Pharmacol , vol.1 , pp. 280-287
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2
  • 22
    • 0037378286 scopus 로고    scopus 로고
    • Sotalol testing unmasks altered repolarization in patients with suspected acquired long-QTsyndrome-a case-control pilot study using i.v. sotalol
    • 10.1016/S0195-668X(02)00806-0
    • S Kaab M Hinterseer M Nabauer 2003 Sotalol testing unmasks altered repolarization in patients with suspected acquired long-QTsyndrome-a case-control pilot study using i.v. sotalol Eur Heart J 24 649 657 10.1016/S0195-668X(02)00806-0
    • (2003) Eur Heart J , vol.24 , pp. 649-657
    • Kaab, S.1    Hinterseer, M.2    Nabauer, M.3
  • 23
    • 0026599434 scopus 로고
    • A regulatory cis element and a specific binding factor involved in the mitogenic control of murine ribosomal protein L32 translation
    • RL Kaspar T Kakegawa H Cranston 1992 A regulatory cis element and a specific binding factor involved in the mitogenic control of murine ribosomal protein L32 translation J Biol Chem 267 508 514
    • (1992) J Biol Chem , vol.267 , pp. 508-514
    • Kaspar, R.L.1    Kakegawa, T.2    Cranston, H.3
  • 24
    • 0028557092 scopus 로고
    • Construction of a human full-length cDNA bank
    • 10.1016/0378-1119(94)90433-2
    • S Kato S Sekine SW Oh 1994 Construction of a human full-length cDNA bank Gene 150 243 250 10.1016/0378-1119(94)90433-2
    • (1994) Gene , vol.150 , pp. 243-250
    • Kato, S.1    Sekine, S.2    Oh, S.W.3
  • 25
    • 0025847714 scopus 로고
    • Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene
    • M Keating D Atkinson C Dunn 1991 Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene Science 252 704 706 10.1126/science.1673802 (Pubitemid 21916997)
    • (1991) Science , vol.252 , Issue.5006 , pp. 704-706
    • Keating, M.1    Atkinson, D.2    Dunn, C.3    Timothy, K.4    Vincent, G.M.5    Leppert, M.6
  • 26
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • 10.1038/nature06862
    • JM Kidd GM Cooper WF Donahue 2008 Mapping and sequencing of structural variation from eight human genomes Nature 453 56 64 10.1038/nature06862
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3
  • 27
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • 10.1126/science.1149504
    • JO Korbel AE Urban JP Affourtit 2007 Paired-end mapping reveals extensive structural variation in the human genome Science 318 420 426 10.1126/science.1149504
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3
  • 28
    • 0036260284 scopus 로고    scopus 로고
    • The neuronal channelopathies
    • DM Kullmann 2002 The neuronal channelopathies Brain 125 1177 1195 10.1093/brain/awf130 (Pubitemid 34587130)
    • (2002) Brain , vol.125 , Issue.6 , pp. 1177-1195
    • Kullmann, D.M.1
  • 29
    • 0033982518 scopus 로고    scopus 로고
    • Antagonism of Notch signaling activity by members of a novel protein family encoded by the Bearded and Enhancer of split gene complexes
    • EC Lai R Bodner J Kavaler G Freschi 2000 Antagonism of Notch signaling activity by members of a novel protein family encoded by the bearded and enhancer of split gene complexes Development 127 291 306 (Pubitemid 30087966)
    • (2000) Development , vol.127 , Issue.2 , pp. 291-306
    • Lai, E.C.1    Bodner, R.2    Kavaler, J.3    Freschi, G.4    Posakony, J.W.5
  • 30
    • 0034200837 scopus 로고    scopus 로고
    • Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects
    • 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0
    • P Laitinen H Fodstad K Piippo 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects Hum Mutat 15 580 581 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0
    • (2000) Hum Mutat , vol.15 , pp. 580-581
    • Laitinen, P.1    Fodstad, H.2    Piippo, K.3
  • 31
    • 0034003508 scopus 로고    scopus 로고
    • Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2
    • 10.1034/j.1399-0004.2000.570206.x
    • LA Larsen IH Svendsen AM Jensen 2000 Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2 Clin Genet 57 125 130 10.1034/j.1399-0004.2000.570206.x
    • (2000) Clin Genet , vol.57 , pp. 125-130
    • Larsen, L.A.1    Svendsen, I.H.2    Jensen, A.M.3
  • 32
    • 0030797874 scopus 로고    scopus 로고
    • A common RNA structural motif involved in the internal initiation of translation of cellular mRNAs
    • 10.1093/nar/25.2.362
    • SY Le JV Maizel 1997 A common RNA structural motif involved in the internal initiation of translation of cellular mRNAs Nucleic Acids Res 25 362 369 10.1093/nar/25.2.362
    • (1997) Nucleic Acids Res , vol.25 , pp. 362-369
    • Le, S.Y.1    Maizel, J.V.2
  • 33
    • 0034304006 scopus 로고    scopus 로고
    • Gender and the heart: Sex-specific differences in normal anatomy and physiology
    • MJ Legato 2000 Gender and the heart: sex-specific differences in normal anatomy and physiology J Gend Specif Med 3 15 18
    • (2000) J Gend Specif Med , vol.3 , pp. 15-18
    • Legato, M.J.1
  • 35
    • 35648976118 scopus 로고    scopus 로고
    • The diploid genome sequence of an individual human
    • 10.1371/journal.pbio.0050254
    • S Levy G Sutton PC Ng 2007 The diploid genome sequence of an individual human PLoS Biol 5 254 10.1371/journal.pbio.0050254
    • (2007) PLoS Biol , vol.5 , pp. 254
    • Levy, S.1    Sutton, G.2    Ng, P.C.3
  • 36
    • 0002907949 scopus 로고
    • The interaction of selection and linkage. I. General considerations; Heterotic models
    • RC Lewontin 1964 The interaction of selection and linkage. I. General considerations; heterotic models Genetics 49 49 67
    • (1964) Genetics , vol.49 , pp. 49-67
    • Lewontin, R.C.1
  • 37
    • 0037071896 scopus 로고    scopus 로고
    • Molecular basis of an inherited epilepsy
    • 10.1016/S0896-6273(02)00714-6
    • CDW Lossin TH Wang CG Rhodes 2002 Molecular basis of an inherited epilepsy Neuron 34 877 884 10.1016/S0896-6273(02)00714-6
    • (2002) Neuron , vol.34 , pp. 877-884
    • Lossin, C.D.W.1    Wang, T.H.2    Rhodes, C.G.3
  • 38
    • 0037049999 scopus 로고    scopus 로고
    • Cardiac channelopathies
    • 10.1038/415213a
    • E Marban 2002 Cardiac channelopathies Nature 415 213 218 10.1038/415213a
    • (2002) Nature , vol.415 , pp. 213-218
    • Marban, E.1
  • 39
    • 33644993216 scopus 로고    scopus 로고
    • Computational approaches for predicting the biological effect of p53 missense mutations: A comparison of three sequence analysis based methods
    • 10.1093/nar/gkj518
    • E Mathe M Olivier S Kato 2006 Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods Nucleic Acids Res 34 1317 1325 10.1093/nar/gkj518
    • (2006) Nucleic Acids Res , vol.34 , pp. 1317-1325
    • Mathe, E.1    Olivier, M.2    Kato, S.3
  • 40
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • 10.1038/ng.238
    • SA McCarroll FG Kuruvilla JM Korn 2008 Integrated detection and population-genetic analysis of SNPs and copy number variation Nat Genet 40 1166 1174 10.1038/ng.238
    • (2008) Nat Genet , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1    Kuruvilla, F.G.2    Korn, J.M.3
  • 42
    • 33747140711 scopus 로고    scopus 로고
    • Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
    • 10.1111/j.1399-0004.2006.00671.x
    • G Millat P Chevalier L Restier-Miron 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome Clin Genet 70 214 227 10.1111/j.1399-0004.2006.00671.x
    • (2006) Clin Genet , vol.70 , pp. 214-227
    • Millat, G.1    Chevalier, P.2    Restier-Miron, L.3
  • 43
    • 0242464931 scopus 로고    scopus 로고
    • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • 10.1038/nature01335
    • PJ Mohler JJ Schott AO Gramolini 2003 Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Nature 421 634 639 10.1038/nature01335
    • (2003) Nature , vol.421 , pp. 634-639
    • Mohler, P.J.1    Schott, J.J.2    Gramolini, A.O.3
  • 44
    • 0036889393 scopus 로고    scopus 로고
    • Variation in recombination rate across the genome: Evidence and implications
    • 10.1016/S0959-437X(02)00358-1
    • MW Nachman 2002 Variation in recombination rate across the genome: evidence and implications Curr Opin Genet Dev 12 6 657 663 10.1016/S0959- 437X(02)00358-1
    • (2002) Curr Opin Genet Dev , vol.12 , Issue.6 , pp. 657-663
    • Nachman, M.W.1
  • 45
    • 0015343263 scopus 로고
    • QT duration and plasma electrolytes (Ca, Na, and K) in uremic patients
    • M Nagasaka H Yokosuka T Yamanaka 1972 QT duration and plasma electrolytes (Ca, Na, and K) in uremic patients Jpn Heart J 13 187 194
    • (1972) Jpn Heart J , vol.13 , pp. 187-194
    • Nagasaka, M.1    Yokosuka, H.2    Yamanaka, T.3
  • 46
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • 10.1101/gr.176601
    • CP Ng S Henikoff 2001 Predicting deleterious amino acid substitutions Genome Res 11 863 874 10.1101/gr.176601
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, C.P.1    Henikoff, S.2
  • 47
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • 10.1101/gr.212802
    • CP Ng S Henikoff 2002 Accounting for human polymorphisms predicted to affect protein function Genome Res 12 436 446 10.1101/gr.212802
    • (2002) Genome Res , vol.12 , pp. 436-446
    • Ng, C.P.1    Henikoff, S.2
  • 48
    • 0028296185 scopus 로고
    • Mining treasures from 'junk DNA'
    • R Nowak 1994 Mining treasures from 'junk DNA' Science 263 608 610 10.1126/science.7508142 (Pubitemid 24076277)
    • (1994) Science , vol.263 , Issue.5147 , pp. 608-610
    • Nowak, R.1
  • 49
    • 0030772963 scopus 로고    scopus 로고
    • Silencing in erythroid differentiation: hnRNP K and hnRNP E1 regulate 15-Lipoxygenase translation from the 3'end
    • DH Ostareck AM Ostareck-Lederer BJ Wilm 1997 Silencing in erythroid differentiation: hnRNP K and hnRNP E1 regulate 15-Lipoxygenase translation from the 3'end Cell 89 597 606 (Pubitemid 27511770)
    • (1997) Cell , vol.89 , Issue.4 , pp. 597-606
    • Ostareck, D.H.1    Ostareck-Lederer, A.2    Wilm, M.3    Thiele, B.J.4    Mann, M.5    Hentze, M.W.6
  • 50
    • 0028201735 scopus 로고
    • Translation of 15-lipoxygenase mRNA is inhibited by a protein that binds to a repeated sequence in the 3'untranslated region
    • A Ostareck-Lederer DH Ostareck N Standart 1994 Translation of 15-lipoxygenase mRNA is inhibited by a protein that binds to a repeated sequence in the 3'untranslated region EMBO J 13 1476 1481
    • (1994) EMBO J , vol.13 , pp. 1476-1481
    • Ostareck-Lederer, A.1    Ostareck, D.H.2    Standart, N.3
  • 51
    • 0031795447 scopus 로고    scopus 로고
    • Cytoplasmic regulatory functions of the KH-domain protein hnRNPs K and E1/E2
    • 10.1016/S0968-0004(98)01301-2
    • A Ostareck-Lederer DH Ostareck MW Hentze 1998 Cytoplasmic regulatory functions of the KH-domain protein hnRNPs K and E1/E2 Trends Biochem Sci 23 409 411 10.1016/S0968-0004(98)01301-2
    • (1998) Trends Biochem Sci , vol.23 , pp. 409-411
    • Ostareck-Lederer, A.1    Ostareck, D.H.2    Hentze, M.W.3
  • 52
    • 0032909883 scopus 로고    scopus 로고
    • A highly conserved sequence in the 3'-untranslated region of the Drosophila Adh gene plays a functional role in Adh expression
    • J Parsch W Stephan S Tanda 1999 A highly conserved sequence in the 3'-untranslated region of the drosophila Adh gene plays a functional role in Adh expression Genetics 151 2 667 674 (Pubitemid 29082934)
    • (1999) Genetics , vol.151 , Issue.2 , pp. 667-674
    • Parsch, J.1    Stephan, W.2    Tanda, S.3
  • 53
    • 0033832539 scopus 로고    scopus 로고
    • Deletion of a conserved regulatory element in the Drosophila Adh gene leads to increased alcohol dehydrogenase activity but also delays development
    • J Parsch JA Russell I Beerman 2000 Deletion of a conserved regulatory element in the Drosophila Adh gene leads to increased alcohol dehydrogenase activity but also delays development Genetics 156 219 227
    • (2000) Genetics , vol.156 , pp. 219-227
    • Parsch, J.1    Russell, J.A.2    Beerman, I.3
  • 54
    • 0035941029 scopus 로고    scopus 로고
    • Blocks of limited haplotype diversity revealed by high resolution scanning of human chromosome 21
    • N Patil AJ Berno DA Hinds 2001 Blocks of limited haplotype diversity revealed by high resolution scanning of human chromosome 21 Science 294 1719 1722
    • (2001) Science , vol.294 , pp. 1719-1722
    • Patil, N.1    Berno, A.J.2    Hinds, D.A.3
  • 55
    • 0033198381 scopus 로고    scopus 로고
    • Internet resources for the functional analysis of 5' and 3' untranslated regions of eukaryotic mRNA
    • 10.1016/S0168-9525(99)01795-3
    • G Pesole S Liuni 1999 Internet resources for the functional analysis of 5' and 3' untranslated regions of eukaryotic mRNA Trends Genet 15 378 10.1016/S0168-9525(99)01795-3
    • (1999) Trends Genet , vol.15 , pp. 378
    • Pesole, G.1    Liuni, S.2
  • 56
    • 0036087522 scopus 로고    scopus 로고
    • UTRdb and UTRsite: Specialized databases of sequences and functional elements of 5′ and 3′ untranslated regions of eukaryotic mRNAs. Update 2002
    • G Pesole S Liuni G Grillo 2002 UTRdb and UTRsite: specialized databases of sequences and functional elements of 5' and 3' untranslated regions of eukaryotic mRNAs Nucleic Acids Res 30 335 340 10.1093/nar/30.1.335 (Pubitemid 34679578)
    • (2002) Nucleic Acids Research , vol.30 , Issue.1 , pp. 335-340
    • Pesole, G.1    Liuni, S.2    Grillo, G.3    Licciulli, F.4    Mignone, F.5    Gissi, C.6    Saccone, C.7
  • 57
    • 18844366475 scopus 로고    scopus 로고
    • Regulatory SNPs in complex diseases: Their identification and functional validation
    • L Prokunina ME Alarcn-Riquelme 2004 Regulatory SNPs in complex diseases: their identification and functional validation Expert Rev Mol Med 6 1 15
    • (2004) Expert Rev Mol Med , vol.6 , pp. 1-15
    • Prokunina, L.1    Alarcn-Riquelme, M.E.2
  • 58
    • 13244277850 scopus 로고    scopus 로고
    • A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans
    • 10.1038/ng1020
    • L Prokunina C Castillejo-Lopez F Oberg 2002 A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans Nat Genet 32 666 669 10.1038/ng1020
    • (2002) Nat Genet , vol.32 , pp. 666-669
    • Prokunina, L.1    Castillejo-Lopez, C.2    Oberg, F.3
  • 59
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • V Ramensky P Bork S Sunyaev 2002 Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 3894 3900 10.1093/nar/gkf493 (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 60
    • 0029852085 scopus 로고    scopus 로고
    • QT interval change with age in an overtly healthy older population
    • M Reardon M Malik 1996 QT interval change with age in an overtly healthy older population Clin Cardiol 19 949 950
    • (1996) Clin Cardiol , vol.19 , pp. 949-950
    • Reardon, M.1    Malik, M.2
  • 61
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • 10.1038/nature05329
    • R Redon S Ishikawa KR Fitch 2006 Global variation in copy number in the human genome Nature 444 444 454 10.1038/nature05329
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 62
    • 0033810469 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms and the future of genetic epidemiology
    • 10.1034/j.1399-0004.2000.580402.x
    • NJ Schork D Fallin JS Lanchbury 2000 Single nucleotide polymorphisms and the future of genetic epidemiology Clin Genet 58 250 264 10.1034/j.1399-0004. 2000.580402.x
    • (2000) Clin Genet , vol.58 , pp. 250-264
    • Schork, N.J.1    Fallin, D.2    Lanchbury, J.S.3
  • 63
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • JJ Schott F Charpentier S Peltier 1995 Mapping of a gene for long QT syndrome to chromosome 4q25-27 Am J Hum Genet 57 1114 1122
    • (1995) Am J Hum Genet , vol.57 , pp. 1114-1122
    • Schott, J.J.1    Charpentier, F.2    Peltier, S.3
  • 64
    • 0031278313 scopus 로고    scopus 로고
    • KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
    • 10.1038/ng1197-267
    • E Schulze-Bahr Q Wang H Wedekind 1997 KCNE1 mutations cause Jervell and Lange-Nielsen syndrome Nat Genet 17 267 268 10.1038/ng1197-267
    • (1997) Nat Genet , vol.17 , pp. 267-268
    • Schulze-Bahr, E.1    Wang, Q.2    Wedekind, H.3
  • 65
    • 0035853854 scopus 로고    scopus 로고
    • An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease
    • M Schwake MT Friedrich TJ Jentsch 2001 An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease J Biol Chem 276 12049 12054
    • (2001) J Biol Chem , vol.276 , pp. 12049-12054
    • Schwake, M.1    Friedrich, M.T.2    Jentsch, T.J.3
  • 66
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • 10.1126/science.1098918
    • J Sebat B Lakshmi J Troge 2004 Large-scale copy number polymorphism in the human genome Science 305 525 528 10.1126/science.1098918
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 67
    • 20544462642 scopus 로고    scopus 로고
    • Segmental duplications and copy-number variation in the human genome
    • 10.1086/431652
    • AJ Sharp DP Locke SD McGrath 2005 Segmental duplications and copy-number variation in the human genome Am J Hum Genet 77 78 88 10.1086/431652
    • (2005) Am J Hum Genet , vol.77 , pp. 78-88
    • Sharp, A.J.1    Locke, D.P.2    McGrath, S.D.3
  • 68
    • 0037125369 scopus 로고    scopus 로고
    • Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients
    • 10.1016/S0735-1097(02)01962-9
    • JPP Smits L Eckardt V Probst 2002 Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients J Am Coll Cardiol 40 350 356 10.1016/S0735-1097(02)01962-9
    • (2002) J Am Coll Cardiol , vol.40 , pp. 350-356
    • Smits, J.P.P.1    Eckardt, L.2    Probst, V.3
  • 69
    • 0028266931 scopus 로고
    • MRNA translation: Influence of the 5' and 3' untranslated regions
    • 10.1016/S0959-437X(05)80059-0
    • N Sonenberg 1994 mRNA translation: influence of the 5' and 3' untranslated regions Curr Opin Genet Dev 4 310 315 10.1016/S0959-437X(05)80059-0
    • (1994) Curr Opin Genet Dev , vol.4 , pp. 310-315
    • Sonenberg, N.1
  • 70
    • 17344389134 scopus 로고    scopus 로고
    • Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1
    • 10.1006/geno.1998.5361
    • I Splawski J Shen KW Timothy 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1 Genomics 51 86 97 10.1006/geno.1998.5361
    • (1998) Genomics , vol.51 , pp. 86-97
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3
  • 72
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural basis of human non-synonymous single nucleotide polymorphisms
    • 10.1016/S0168-9525(00)01988-0
    • S Sunyaev V Ramensky P Bork 2000 Towards a structural basis of human non-synonymous single nucleotide polymorphisms Trends Genet 16 198 200 10.1016/S0168-9525(00)01988-0
    • (2000) Trends Genet , vol.16 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3
  • 73
    • 7444262496 scopus 로고    scopus 로고
    • The status, quality, and expansion of the NIH full-length cDNA project: The mammalian gene collection (MGC)
    • The MGC Project Team. 10.1101/gr.2596504
    • The MGC Project Team 2004 The status, quality, and expansion of the NIH full-length cDNA project: the mammalian gene collection (MGC) Genome Res 14 2121 2127 10.1101/gr.2596504
    • (2004) Genome Res , vol.14 , pp. 2121-2127
  • 74
    • 0032979720 scopus 로고    scopus 로고
    • Electrophysiological remodeling in hypertrophy and heart failure
    • 10.1016/S0008-6363(99)00017-6
    • GF Tomaselli E Marban 1999 Electrophysiological remodeling in hypertrophy and heart failure Cardiovasc Res 42 270 283 10.1016/S0008-6363(99)00017-6
    • (1999) Cardiovasc Res , vol.42 , pp. 270-283
    • Tomaselli, G.F.1    Marban, E.2
  • 75
    • 0033600944 scopus 로고    scopus 로고
    • Jervell and Lange-Nielsen syndrome: A Norwegian perspective
    • 10.1002/(SICI)1096-8628(19990924)89:3<137::AID-AJMG4>3.0.CO;2-C
    • L Tranebjaerg J Bathen J Tyson 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective Am J Med Genet 89 137 146 10.1002/(SICI)1096- 8628(19990924)89:3<137::AID-AJMG4>3.0.CO;2-C
    • (1999) Am J Med Genet , vol.89 , pp. 137-146
    • Tranebjaerg, L.1    Bathen, J.2    Tyson, J.3
  • 76
    • 22844451617 scopus 로고    scopus 로고
    • Fine-scale structural variation of the human genome
    • 10.1038/ng1562
    • E Tuzun AJ Sharp JA Bailey 2005 Fine-scale structural variation of the human genome Nat Genet 37 727 732 10.1038/ng1562
    • (2005) Nat Genet , vol.37 , pp. 727-732
    • Tuzun, E.1    Sharp, A.J.2    Bailey, J.A.3
  • 78
    • 0034026082 scopus 로고    scopus 로고
    • Cytokine and cytokine receptor polymorphisms in infectious disease
    • 10.1007/s001340051125
    • S Van Deventer 2000 Cytokine and cytokine receptor polymorphisms in infectious disease Intensive Care Med 26 S98 S102 10.1007/s001340051125
    • (2000) Intensive Care Med , vol.26
    • Van Deventer, S.1
  • 79
    • 0029297889 scopus 로고    scopus 로고
    • Translational control: Awakening dormant mRNAs
    • 10.1016/S0960-9822(95)00095-9
    • J-D Vassalli A Stutz 1996 Translational control: awakening dormant mRNAs Curr Biol 5 476 479 10.1016/S0960-9822(95)00095-9
    • (1996) Curr Biol , vol.5 , pp. 476-479
    • Vassalli, J.-D.1    Stutz, A.2
  • 80
    • 0029814435 scopus 로고    scopus 로고
    • Evolutionary conservation of sequence elements controlling cytoplasmic polyadenylation
    • 10.1073/pnas.93.17.9027
    • AC Verrotti SR Thompson C Wreden 1996 Evolutionary conservation of sequence elements controlling cytoplasmic polyadenylation Proc Natl Acad Sci USA 93 9027 9032 10.1073/pnas.93.17.9027
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9027-9032
    • Verrotti, A.C.1    Thompson, S.R.2    Wreden, C.3
  • 81
    • 33644876253 scopus 로고    scopus 로고
    • Database resources of the national center for biotechnology information
    • 10.1093/nar/gkj158
    • DL Wheeler T Barrett DA Benson 2006 Database resources of the national center for biotechnology information Nucleic Acids Res 34 D173 D180 10.1093/nar/gkj158
    • (2006) Nucleic Acids Res , vol.34
    • Wheeler, D.L.1    Barrett, T.2    Benson, D.A.3
  • 82
    • 0028605749 scopus 로고
    • Sex differences in the rate of cardiac repolarization
    • H Yang P Elko GL LeCarpentier 1994 Sex differences in the rate of cardiac repolarization J Electrocardiol 27 72 73 10.1016/S0022-0736(94)80052-9 (Pubitemid 124034263)
    • (1994) Journal of Electrocardiology , vol.27 , Issue.SUPPL. 1 , pp. 72-73
    • Yang, H.1
  • 83
    • 0037161355 scopus 로고    scopus 로고
    • Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
    • 10.1161/01.CIR.0000014448.19052.4C
    • P Yang H Kanki B Drolet 2002 Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes Circulation 105 1943 1948 10.1161/01.CIR.0000014448.19052.4C
    • (2002) Circulation , vol.105 , pp. 1943-1948
    • Yang, P.1    Kanki, H.2    Drolet, B.3
  • 84
    • 2342596530 scopus 로고    scopus 로고
    • The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants
    • 10.1002/humu.20021
    • YL Yip H Scheib AV Diemand 2004 The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants Hum Mutat 23 464 470 10.1002/humu.20021
    • (2004) Hum Mutat , vol.23 , pp. 464-470
    • Yip, Y.L.1    Scheib, H.2    Diemand, A.V.3
  • 85
    • 0035254154 scopus 로고    scopus 로고
    • Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG
    • 10.1002/1096-8628(20010201)98:4<348::AID-AJMG1109>3.0.CO;2-A
    • H Yoshida M Horie H Otani 2001 Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG Am J Med Genet 98 348 352 10.1002/1096-8628(20010201)98:4<348::AID-AJMG1109>3.0. CO;2-A
    • (2001) Am J Med Genet , vol.98 , pp. 348-352
    • Yoshida, H.1    Horie, M.2    Otani, H.3
  • 86
    • 33747832183 scopus 로고    scopus 로고
    • FASTSNP: An always up-to-date and extendable service for SNP function analysis and prioritization
    • 10.1093/nar/gkl236
    • HY Yuan JJ Chiou WH Tseng 2006 FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization Nucleic Acids Res 34 W635 W641 10.1093/nar/gkl236
    • (2006) Nucleic Acids Res , vol.34
    • Yuan, H.Y.1    Chiou, J.J.2    Tseng, W.H.3
  • 87
    • 35448992970 scopus 로고    scopus 로고
    • Germ-line DNA copy number variation frequencies in a large North American population
    • 10.1007/s00439-007-0404-5
    • G Zogopoulos KC Ha F Naqib 2007 Germ-line DNA copy number variation frequencies in a large North American population Hum Genet 122 345 353 10.1007/s00439-007-0404-5
    • (2007) Hum Genet , vol.122 , pp. 345-353
    • Zogopoulos, G.1    Ha, K.C.2    Naqib, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.