메뉴 건너뛰기




Volumn 28, Issue 2, 2014, Pages 175-189

Genetics, genomics, and their relevance to pathology and therapy

Author keywords

Genome wide association study; lncRNA; miRNA; Pediatric rheumatology; Somatic mosaicism; Targeted deep resequencing

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; LONG UNTRANSLATED RNA; MICRORNA; PROTEIN; PROTEIN HOIL 1; UNCLASSIFIED DRUG;

EID: 84903310513     PISSN: 15216942     EISSN: 15321770     Source Type: Journal    
DOI: 10.1016/j.berh.2014.05.001     Document Type: Review
Times cited : (21)

References (97)
  • 1
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Y. Yang, D.M. Muzny, and J.G. Reid et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med 369 2013 1502 1511
    • (2013) N Engl J Med , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 2
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • G.R. Abecasis, A. Auton, and L.D. Brooks et al. An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 3
    • 84863845193 scopus 로고    scopus 로고
    • Genotype imputation with thousands of genomes
    • B. Howie, J. Marchini, and M. Stephens Genotype imputation with thousands of genomes G3 (Bethesda) 1 2011 457 470
    • (2011) G3 (Bethesda) , vol.1 , pp. 457-470
    • Howie, B.1    Marchini, J.2    Stephens, M.3
  • 4
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • B.E. Bernstein, E. Birney, and I. Dunham et al. An integrated encyclopedia of DNA elements in the human genome Nature 489 2012 57 74
    • (2012) Nature , vol.489 , pp. 57-74
    • Bernstein, B.E.1    Birney, E.2    Dunham, I.3
  • 5
    • 84862263248 scopus 로고    scopus 로고
    • The NIH Roadmap Epigenomics Program data resource
    • L.H. Chadwick The NIH Roadmap Epigenomics Program data resource Epigenomics 4 2012 317 324
    • (2012) Epigenomics , vol.4 , pp. 317-324
    • Chadwick, L.H.1
  • 6
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • M.T. Maurano, R. Humbert, and E. Rynes et al. Systematic localization of common disease-associated variation in regulatory DNA Science 337 2012 1190 1195
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3
  • 7
    • 17344369486 scopus 로고    scopus 로고
    • Linkage of familial Hibernian fever to chromosome 12p13
    • M.F. McDermott, B.W. Ogunkolade, and E.M. McDermott et al. Linkage of familial Hibernian fever to chromosome 12p13 Am J Hum Genet. 62 1998 1446 1451
    • (1998) Am J Hum Genet. , vol.62 , pp. 1446-1451
    • McDermott, M.F.1    Ogunkolade, B.W.2    McDermott, E.M.3
  • 8
    • 84863030888 scopus 로고    scopus 로고
    • Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
    • M.J. Ombrello, E.F. Remmers, and G. Sun et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions N Engl J Med 366 2012 330 338
    • (2012) N Engl J Med , vol.366 , pp. 330-338
    • Ombrello, M.J.1    Remmers, E.F.2    Sun, G.3
  • 10
    • 85029557540 scopus 로고    scopus 로고
    • Principles and techniques in molecular biology
    • M.C. Hochberg, A.J. Silman, J.S. Smolen, 5th ed. Mosby/Elsevier Philadelphia
    • E.F. Remmers, M.J. Ombrello, and Y. Kanno et al. Principles and techniques in molecular biology M.C. Hochberg, A.J. Silman, J.S. Smolen, Rheumatology 5th ed. 2011 Mosby/Elsevier Philadelphia 105 118
    • (2011) Rheumatology , pp. 105-118
    • Remmers, E.F.1    Ombrello, M.J.2    Kanno, Y.3
  • 11
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • M.L. Metzker Sequencing technologies - the next generation Nat Rev Genet. 11 2010 31 46
    • (2010) Nat Rev Genet. , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 12
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • J. Shendure, and H. Ji Next-generation DNA sequencing Nat Biotechnol 26 2008 1135 1145
    • (2008) Nat Biotechnol , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 13
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • S.B. Ng, E.H. Turner, and P.D. Robertson et al. Targeted capture and massively parallel sequencing of 12 human exomes Nature 461 2009 272 276
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 14
    • 84879411643 scopus 로고    scopus 로고
    • Sequencing studies in human genetics: Design and interpretation
    • D.B. Goldstein, A. Allen, and J. Keebler et al. Sequencing studies in human genetics: design and interpretation Nat Rev Genet. 14 2013 460 470
    • (2013) Nat Rev Genet. , vol.14 , pp. 460-470
    • Goldstein, D.B.1    Allen, A.2    Keebler, J.3
  • 15
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • S.B. Ng, K.J. Buckingham, and C. Lee et al. Exome sequencing identifies the cause of a Mendelian disorder Nat Genet. 42 2010 30 35
    • (2010) Nat Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 16
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • J.C. Roach, G. Glusman, and A.F. Smit et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing Science 328 2010 636 639
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 17
    • 73349138875 scopus 로고    scopus 로고
    • Exome sequencing makes medical genomics a reality
    • L.G. Biesecker Exome sequencing makes medical genomics a reality Nat Genet. 42 2010 13 14
    • (2010) Nat Genet. , vol.42 , pp. 13-14
    • Biesecker, L.G.1
  • 18
    • 84884826911 scopus 로고    scopus 로고
    • The next-generation sequencing revolution and its impact on genomics
    • D.C. Koboldt, K.M. Steinberg, and D.E. Larson et al. The next-generation sequencing revolution and its impact on genomics Cell 155 2013 27 38
    • (2013) Cell , vol.155 , pp. 27-38
    • Koboldt, D.C.1    Steinberg, K.M.2    Larson, D.E.3
  • 19
    • 84895461649 scopus 로고    scopus 로고
    • Early-onset stroke and vasculopathy associated with mutations in ADA2
    • Q. Zhou, D. Yang, and A.K. Ombrello et al. Early-onset stroke and vasculopathy associated with mutations in ADA2 N Engl J Med 2014
    • (2014) N Engl J Med
    • Zhou, Q.1    Yang, D.2    Ombrello, A.K.3
  • 20
    • 84895465707 scopus 로고    scopus 로고
    • Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
    • P.N. Elkan, S.B. Pierce, and R. Segel et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy N Engl J Med 2014
    • (2014) N Engl J Med
    • Elkan, P.N.1    Pierce, S.B.2    Segel, R.3
  • 21
    • 84888986367 scopus 로고    scopus 로고
    • Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
    • A. Reiff, A.G. Bassuk, and J.A. Church et al. Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease J Clin Immunol 33 2013 1289 1292
    • (2013) J Clin Immunol , vol.33 , pp. 1289-1292
    • Reiff, A.1    Bassuk, A.G.2    Church, J.A.3
  • 22
    • 84869429707 scopus 로고    scopus 로고
    • Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
    • B. Boisson, E. Laplantine, and C. Prando et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Nat Immunol 13 2012 1178 1186
    • (2012) Nat Immunol , vol.13 , pp. 1178-1186
    • Boisson, B.1    Laplantine, E.2    Prando, C.3
  • 23
    • 59649103156 scopus 로고    scopus 로고
    • Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation
    • F. Tokunaga, S. Sakata, and Y. Saeki et al. Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation Nat Cell Biol. 11 2009 123 132
    • (2009) Nat Cell Biol. , vol.11 , pp. 123-132
    • Tokunaga, F.1    Sakata, S.2    Saeki, Y.3
  • 24
    • 84867255789 scopus 로고    scopus 로고
    • A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
    • Q. Zhou, G.S. Lee, and J. Brady et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency Am J Hum Genet. 91 2012 713 720
    • (2012) Am J Hum Genet. , vol.91 , pp. 713-720
    • Zhou, Q.1    Lee, G.S.2    Brady, J.3
  • 25
    • 84859707571 scopus 로고    scopus 로고
    • Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing
    • K. Izawa, A. Hijikata, and N. Tanaka et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing DNA Res. 19 2012 143 152
    • (2012) DNA Res. , vol.19 , pp. 143-152
    • Izawa, K.1    Hijikata, A.2    Tanaka, N.3
  • 26
    • 84877629096 scopus 로고    scopus 로고
    • First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes
    • S. Jimenez-Trevino, E. Gonzalez-Roca, and E. Ruiz-Ortiz et al. First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes Ann Rheum Dis 72 2013 1109 1110
    • (2013) Ann Rheum Dis , vol.72 , pp. 1109-1110
    • Jimenez-Trevino, S.1    Gonzalez-Roca, E.2    Ruiz-Ortiz, E.3
  • 27
    • 85027907444 scopus 로고    scopus 로고
    • Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
    • K. Nakagawa, E. Gonzalez-Roca, and A. Souto et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes Ann Rheum Dis 2013
    • (2013) Ann Rheum Dis
    • Nakagawa, K.1    Gonzalez-Roca, E.2    Souto, A.3
  • 28
    • 84897019916 scopus 로고    scopus 로고
    • Brief report: Whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome
    • E. Omoyinmi, S. Melo Gomes, and A. Standing et al. Brief report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome Arthritis Rheumatol 66 2014 197 202
    • (2014) Arthritis Rheumatol , vol.66 , pp. 197-202
    • Omoyinmi, E.1    Melo Gomes, S.2    Standing, A.3
  • 29
    • 84865979581 scopus 로고    scopus 로고
    • Detection of ultra-rare mutations by next-generation sequencing
    • M.W. Schmitt, S.R. Kennedy, and J.J. Salk et al. Detection of ultra-rare mutations by next-generation sequencing Proc Natl Acad Sci U S A 109 2012 14508 14513
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 14508-14513
    • Schmitt, M.W.1    Kennedy, S.R.2    Salk, J.J.3
  • 30
    • 84884419292 scopus 로고    scopus 로고
    • Emerging patterns of somatic mutations in cancer
    • I.R. Watson, K. Takahashi, and P.A. Futreal et al. Emerging patterns of somatic mutations in cancer Nat Rev Genet. 14 2013 703 718
    • (2013) Nat Rev Genet. , vol.14 , pp. 703-718
    • Watson, I.R.1    Takahashi, K.2    Futreal, P.A.3
  • 31
    • 84860389181 scopus 로고    scopus 로고
    • A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    • M.J. Lindhurst, J.C. Sapp, and J.K. Teer et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 2011 611 619
    • (2011) N Engl J Med , vol.365 , pp. 611-619
    • Lindhurst, M.J.1    Sapp, J.C.2    Teer, J.K.3
  • 32
    • 84889659729 scopus 로고    scopus 로고
    • High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing
    • D.I. Lou, J.A. Hussmann, and R.M. McBee et al. High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing Proc Natl Acad Sci U S A 110 2013 19872 19877
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 19872-19877
    • Lou, D.I.1    Hussmann, J.A.2    McBee, R.M.3
  • 33
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • S. Nejentsev, N. Walker, and D. Riches et al. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes Science 324 2009 387 389
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3
  • 34
    • 84872323563 scopus 로고    scopus 로고
    • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis
    • D. Diogo, F. Kurreeman, and E.A. Stahl et al. Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis Am J Hum Genet. 92 2013 15 27
    • (2013) Am J Hum Genet. , vol.92 , pp. 15-27
    • Diogo, D.1    Kurreeman, F.2    Stahl, E.A.3
  • 35
    • 84877865074 scopus 로고    scopus 로고
    • Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease
    • Y. Kirino, Q. Zhou, and Y. Ishigatsubo et al. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease Proc Natl Acad Sci U S A 110 2013 8134 8139
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 8134-8139
    • Kirino, Y.1    Zhou, Q.2    Ishigatsubo, Y.3
  • 36
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • T.A. Manolio Genomewide association studies and assessment of the risk of disease N Engl J Med 363 2010 166 176
    • (2010) N Engl J Med , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 37
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • B.N. Howie, P. Donnelly, and J. Marchini A flexible and accurate genotype imputation method for the next generation of genome-wide association studies PLoS Genet 5 2009 e1000529
    • (2009) PLoS Genet , vol.5 , pp. 1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 38
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • J. Marchini, B. Howie, and S. Myers et al. A new multipoint method for genome-wide association studies by imputation of genotypes Nat Genet. 39 2007 906 913
    • (2007) Nat Genet. , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3
  • 39
    • 84864417548 scopus 로고    scopus 로고
    • Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
    • B. Howie, C. Fuchsberger, and M. Stephens et al. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing Nat Genet. 44 2012 955 959
    • (2012) Nat Genet. , vol.44 , pp. 955-959
    • Howie, B.1    Fuchsberger, C.2    Stephens, M.3
  • 40
    • 84856478855 scopus 로고    scopus 로고
    • A linear complexity phasing method for thousands of genomes
    • O. Delaneau, J. Marchini, and J.F. Zagury A linear complexity phasing method for thousands of genomes Nat Methods 9 2012 179 181
    • (2012) Nat Methods , vol.9 , pp. 179-181
    • Delaneau, O.1    Marchini, J.2    Zagury, J.F.3
  • 41
    • 77955087288 scopus 로고    scopus 로고
    • Genome-Wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease
    • E.F. Remmers, F. Cosan, and Y. Kirino et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease Nat Genet. 42 2010 698 702
    • (2010) Nat Genet. , vol.42 , pp. 698-702
    • Remmers, E.F.1    Cosan, F.2    Kirino, Y.3
  • 42
    • 84873091770 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1
    • Y. Kirino, G. Bertsias, and Y. Ishigatsubo et al. Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1 Nat Genet. 45 2013 202 207
    • (2013) Nat Genet. , vol.45 , pp. 202-207
    • Kirino, Y.1    Bertsias, G.2    Ishigatsubo, Y.3
  • 43
    • 84878802935 scopus 로고    scopus 로고
    • Imputing amino acid polymorphisms in human leukocyte antigens
    • X. Jia, B. Han, and S. Onengut-Gumuscu et al. Imputing amino acid polymorphisms in human leukocyte antigens PLoS One 8 2013 e64683
    • (2013) PLoS One , vol.8 , pp. 64683
    • Jia, X.1    Han, B.2    Onengut-Gumuscu, S.3
  • 44
    • 78650084232 scopus 로고    scopus 로고
    • The major genetic determinants of HIV-1 control affect HLA class i peptide presentation
    • F. Pereyra, X. Jia, and P.J. McLaren et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation Science 330 2010 1551 1557
    • (2010) Science , vol.330 , pp. 1551-1557
    • Pereyra, F.1    Jia, X.2    McLaren, P.J.3
  • 45
    • 0023500817 scopus 로고
    • The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis
    • P.K. Gregersen, J. Silver, and R.J. Winchester The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis Arthritis Rheum 30 1987 1205 1213
    • (1987) Arthritis Rheum , vol.30 , pp. 1205-1213
    • Gregersen, P.K.1    Silver, J.2    Winchester, R.J.3
  • 46
    • 84862776511 scopus 로고    scopus 로고
    • Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
    • S. Raychaudhuri, C. Sandor, and E.A. Stahl et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis Nat Genet. 44 2012 291 296
    • (2012) Nat Genet. , vol.44 , pp. 291-296
    • Raychaudhuri, S.1    Sandor, C.2    Stahl, E.A.3
  • 47
    • 84902584326 scopus 로고    scopus 로고
    • Behçet's disease-associated MHC class i residues implicate antigen binding and regulation of cell-mediated cytotoxicity
    • [Published online ahead of print], May 12, 2014
    • M.J. Ombrello, Y. Kirino, P.I.W. de Bakker, et al., Behçet's disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity, Proc Natl Acad Sci U S A. [Published online ahead of print], May 12, 2014.
    • Proc Natl Acad Sci U S A.
    • Ombrello, M.J.1    Kirino, Y.2    De Bakker, P.I.W.3
  • 48
    • 77952888454 scopus 로고    scopus 로고
    • Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
    • E.A. Stahl, S. Raychaudhuri, and E.F. Remmers et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci Nat Genet. 42 2010 508 514
    • (2010) Nat Genet. , vol.42 , pp. 508-514
    • Stahl, E.A.1    Raychaudhuri, S.2    Remmers, E.F.3
  • 49
    • 84862809846 scopus 로고    scopus 로고
    • Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
    • Y. Okada, C. Terao, and K. Ikari et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population Nat Genet. 44 2012 511 516
    • (2012) Nat Genet. , vol.44 , pp. 511-516
    • Okada, Y.1    Terao, C.2    Ikari, K.3
  • 50
    • 84894288992 scopus 로고    scopus 로고
    • Genetics of rheumatoid arthritis contributes to biology and drug discovery
    • Y. Okada, D. Wu, and G. Trynka et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery Nature 506 2014 376 381
    • (2014) Nature , vol.506 , pp. 376-381
    • Okada, Y.1    Wu, D.2    Trynka, G.3
  • 51
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • D.M. Altshuler, R.A. Gibbs, and L. Peltonen et al. Integrating common and rare genetic variation in diverse human populations Nature 467 2010 52 58
    • (2010) Nature , vol.467 , pp. 52-58
    • Altshuler, D.M.1    Gibbs, R.A.2    Peltonen, L.3
  • 52
    • 79960279940 scopus 로고    scopus 로고
    • Promise and pitfalls of the immunochip
    • A. Cortes, and M.A. Brown Promise and pitfalls of the immunochip Arthritis Res Ther 13 2011 101
    • (2011) Arthritis Res Ther , vol.13 , pp. 101
    • Cortes, A.1    Brown, M.A.2
  • 53
    • 84878739093 scopus 로고    scopus 로고
    • Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
    • A. Hinks, J. Cobb, and M.C. Marion et al. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis Nat Genet. 45 2013 664 669
    • (2013) Nat Genet. , vol.45 , pp. 664-669
    • Hinks, A.1    Cobb, J.2    Marion, M.C.3
  • 54
    • 84884769487 scopus 로고    scopus 로고
    • In search of low-frequency and rare variants affecting complex traits
    • K. Panoutsopoulou, I. Tachmazidou, and E. Zeggini In search of low-frequency and rare variants affecting complex traits Hum Mol Genet. 22 2013 R16 21
    • (2013) Hum Mol Genet. , vol.22 , pp. 16-21
    • Panoutsopoulou, K.1    Tachmazidou, I.2    Zeggini, E.3
  • 55
    • 80054975975 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
    • M.A. Rivas, M. Beaudoin, and A. Gardet et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease Nat Genet 43 2011 1066 1073
    • (2011) Nat Genet , vol.43 , pp. 1066-1073
    • Rivas, M.A.1    Beaudoin, M.2    Gardet, A.3
  • 56
    • 84864459073 scopus 로고    scopus 로고
    • Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13
    • S.D. Thompson, M.C. Marion, and M. Sudman et al. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13 Arthritis Rheum 64 2012 2781 2791
    • (2012) Arthritis Rheum , vol.64 , pp. 2781-2791
    • Thompson, S.D.1    Marion, M.C.2    Sudman, M.3
  • 57
    • 78249237207 scopus 로고    scopus 로고
    • The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1
    • S.D. Thompson, M. Sudman, and P.S. Ramos et al. The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1 Arthritis Rheum 62 2010 3265 3276
    • (2010) Arthritis Rheum , vol.62 , pp. 3265-3276
    • Thompson, S.D.1    Sudman, M.2    Ramos, P.S.3
  • 58
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • L.A. Hindorff, P. Sethupathy, and H.A. Junkins et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc Natl Acad Sci U S A 106 2009 9362 9367
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 59
    • 84865755978 scopus 로고    scopus 로고
    • The accessible chromatin landscape of the human genome
    • R.E. Thurman, E. Rynes, and R. Humbert et al. The accessible chromatin landscape of the human genome Nature 489 2012 75 82
    • (2012) Nature , vol.489 , pp. 75-82
    • Thurman, R.E.1    Rynes, E.2    Humbert, R.3
  • 60
    • 0032992224 scopus 로고    scopus 로고
    • DNA methylation represses transcription in vivo
    • Z. Siegfried, S. Eden, and M. Mendelsohn et al. DNA methylation represses transcription in vivo Nat Genet 22 1999 203 206
    • (1999) Nat Genet , vol.22 , pp. 203-206
    • Siegfried, Z.1    Eden, S.2    Mendelsohn, M.3
  • 61
    • 33847334699 scopus 로고    scopus 로고
    • Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
    • N.D. Heintzman, R.K. Stuart, and G. Hon et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome Nat Genet 39 2007 311 318
    • (2007) Nat Genet , vol.39 , pp. 311-318
    • Heintzman, N.D.1    Stuart, R.K.2    Hon, G.3
  • 62
    • 79952192654 scopus 로고    scopus 로고
    • Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
    • I. Adrianto, F. Wen, and A. Templeton et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus Nat Genet 43 2011 253 258
    • (2011) Nat Genet , vol.43 , pp. 253-258
    • Adrianto, I.1    Wen, F.2    Templeton, A.3
  • 63
    • 84863393160 scopus 로고    scopus 로고
    • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    • S431-S432
    • C.A. Albers, D.S. Paul, and H. Schulze et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome Nat Genet 44 2012 435 439 S431-S432
    • (2012) Nat Genet , vol.44 , pp. 435-439
    • Albers, C.A.1    Paul, D.S.2    Schulze, H.3
  • 64
    • 84873086126 scopus 로고    scopus 로고
    • Chromatin marks identify critical cell types for fine mapping complex trait variants
    • G. Trynka, C. Sandor, and B. Han et al. Chromatin marks identify critical cell types for fine mapping complex trait variants Nat Genet 45 2013 124 130
    • (2013) Nat Genet , vol.45 , pp. 124-130
    • Trynka, G.1    Sandor, C.2    Han, B.3
  • 65
    • 77950243833 scopus 로고    scopus 로고
    • Multiple common variants for celiac disease influencing immune gene expression
    • P.C. Dubois, G. Trynka, and L. Franke et al. Multiple common variants for celiac disease influencing immune gene expression Nat Genet 42 2010 295 302
    • (2010) Nat Genet , vol.42 , pp. 295-302
    • Dubois, P.C.1    Trynka, G.2    Franke, L.3
  • 66
    • 82255192188 scopus 로고    scopus 로고
    • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
    • G. Trynka, K.A. Hunt, and N.A. Bockett et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease Nat Genet 43 2011 1193 1201
    • (2011) Nat Genet , vol.43 , pp. 1193-1201
    • Trynka, G.1    Hunt, K.A.2    Bockett, N.A.3
  • 67
    • 0035656688 scopus 로고    scopus 로고
    • Non-coding RNA genes and the modern RNA world
    • S.R. Eddy Non-coding RNA genes and the modern RNA world Nat Rev Genet 2 2001 919 929
    • (2001) Nat Rev Genet , vol.2 , pp. 919-929
    • Eddy, S.R.1
  • 68
    • 84865757142 scopus 로고    scopus 로고
    • Landscape of transcription in human cells
    • S. Djebali, C.A. Davis, and A. Merkel et al. Landscape of transcription in human cells Nature 489 2012 101 108
    • (2012) Nature , vol.489 , pp. 101-108
    • Djebali, S.1    Davis, C.A.2    Merkel, A.3
  • 69
    • 84875183056 scopus 로고    scopus 로고
    • Structure and function of long noncoding RNAs in epigenetic regulation
    • T.R. Mercer, and J.S. Mattick Structure and function of long noncoding RNAs in epigenetic regulation Nat Struct Mol Biol 20 2013 300 307
    • (2013) Nat Struct Mol Biol , vol.20 , pp. 300-307
    • Mercer, T.R.1    Mattick, J.S.2
  • 70
    • 0035905766 scopus 로고    scopus 로고
    • Role for a bidentate ribonuclease in the initiation step of RNA interference
    • E. Bernstein, A.A. Caudy, and S.M. Hammond et al. Role for a bidentate ribonuclease in the initiation step of RNA interference Nature 409 2001 363 366
    • (2001) Nature , vol.409 , pp. 363-366
    • Bernstein, E.1    Caudy, A.A.2    Hammond, S.M.3
  • 71
    • 0141843656 scopus 로고    scopus 로고
    • The nuclear RNase III Drosha initiates microRNA processing
    • Y. Lee, C. Ahn, and J. Han et al. The nuclear RNase III Drosha initiates microRNA processing Nature 425 2003 415 419
    • (2003) Nature , vol.425 , pp. 415-419
    • Lee, Y.1    Ahn, C.2    Han, J.3
  • 72
    • 36349032759 scopus 로고    scopus 로고
    • MicroRNAs in disease and potential therapeutic applications
    • H.S. Soifer, J.J. Rossi, and P. Saetrom MicroRNAs in disease and potential therapeutic applications Mol Ther 15 2007 2070 2079
    • (2007) Mol Ther , vol.15 , pp. 2070-2079
    • Soifer, H.S.1    Rossi, J.J.2    Saetrom, P.3
  • 73
    • 42449156220 scopus 로고    scopus 로고
    • Altered expression of MicroRNA in synovial fibroblasts and synovial tissue in rheumatoid arthritis
    • J. Stanczyk, D.M. Pedrioli, and F. Brentano et al. Altered expression of MicroRNA in synovial fibroblasts and synovial tissue in rheumatoid arthritis Arthritis Rheum 58 2008 1001 1009
    • (2008) Arthritis Rheum , vol.58 , pp. 1001-1009
    • Stanczyk, J.1    Pedrioli, D.M.2    Brentano, F.3
  • 74
    • 77952086523 scopus 로고    scopus 로고
    • Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis
    • K. Murata, H. Yoshitomi, and S. Tanida et al. Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis Arthritis Res Ther 12 2010 R86
    • (2010) Arthritis Res Ther , vol.12 , pp. 86
    • Murata, K.1    Yoshitomi, H.2    Tanida, S.3
  • 75
    • 33747608638 scopus 로고    scopus 로고
    • NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responses
    • K.D. Taganov, M.P. Boldin, and K.J. Chang et al. NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responses Proc Natl Acad Sci U S A 103 2006 12481 12486
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 12481-12486
    • Taganov, K.D.1    Boldin, M.P.2    Chang, K.J.3
  • 76
    • 79251592866 scopus 로고    scopus 로고
    • Mechanistic role of microRNA-146a in endotoxin-induced differential cross-regulation of TLR signaling
    • M.A. Nahid, M. Satoh, and E.K. Chan Mechanistic role of microRNA-146a in endotoxin-induced differential cross-regulation of TLR signaling J Immunol 186 2011 1723 1734
    • (2011) J Immunol , vol.186 , pp. 1723-1734
    • Nahid, M.A.1    Satoh, M.2    Chan, E.K.3
  • 77
    • 14844354250 scopus 로고    scopus 로고
    • Accumulation of miR-155 and BIC RNA in human B cell lymphomas
    • P.S. Eis, W. Tam, and L. Sun et al. Accumulation of miR-155 and BIC RNA in human B cell lymphomas Proc Natl Acad Sci U S A 102 2005 3627 3632
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 3627-3632
    • Eis, P.S.1    Tam, W.2    Sun, L.3
  • 78
    • 79960595150 scopus 로고    scopus 로고
    • MicroRNA-155 as a proinflammatory regulator in clinical and experimental arthritis
    • M. Kurowska-Stolarska, S. Alivernini, and L.E. Ballantine et al. MicroRNA-155 as a proinflammatory regulator in clinical and experimental arthritis Proc Natl Acad Sci U S A 108 2011 11193 11198
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 11193-11198
    • Kurowska-Stolarska, M.1    Alivernini, S.2    Ballantine, L.E.3
  • 79
    • 79955561084 scopus 로고    scopus 로고
    • Essential role of microRNA-155 in the pathogenesis of autoimmune arthritis in mice
    • S. Bluml, M. Bonelli, and B. Niederreiter et al. Essential role of microRNA-155 in the pathogenesis of autoimmune arthritis in mice Arthritis Rheum 63 2011 1281 1288
    • (2011) Arthritis Rheum , vol.63 , pp. 1281-1288
    • Bluml, S.1    Bonelli, M.2    Niederreiter, B.3
  • 80
    • 39849096995 scopus 로고    scopus 로고
    • Regulation of progenitor cell proliferation and granulocyte function by microRNA-223
    • J.B. Johnnidis, M.H. Harris, and R.T. Wheeler et al. Regulation of progenitor cell proliferation and granulocyte function by microRNA-223 Nature 451 2008 1125 1129
    • (2008) Nature , vol.451 , pp. 1125-1129
    • Johnnidis, J.B.1    Harris, M.H.2    Wheeler, R.T.3
  • 81
    • 84865304885 scopus 로고    scopus 로고
    • Inducible microRNA-223 down-regulation promotes TLR-triggered IL-6 and IL-1beta production in macrophages by targeting STAT3
    • Q. Chen, H. Wang, and Y. Liu et al. Inducible microRNA-223 down-regulation promotes TLR-triggered IL-6 and IL-1beta production in macrophages by targeting STAT3 PLoS One 7 2012 e42971
    • (2012) PLoS One , vol.7 , pp. 42971
    • Chen, Q.1    Wang, H.2    Liu, Y.3
  • 82
    • 84867320879 scopus 로고    scopus 로고
    • Cutting edge: MiR-223 and EBV miR-BART15 regulate the NLRP3 inflammasome and IL-1beta production
    • M. Haneklaus, M. Gerlic, and M. Kurowska-Stolarska et al. Cutting edge: miR-223 and EBV miR-BART15 regulate the NLRP3 inflammasome and IL-1beta production J Immunol 189 2012 3795 3799
    • (2012) J Immunol , vol.189 , pp. 3795-3799
    • Haneklaus, M.1    Gerlic, M.2    Kurowska-Stolarska, M.3
  • 83
    • 84867304098 scopus 로고    scopus 로고
    • NLRP3 inflammasome activity is negatively controlled by miR-223
    • F. Bauernfeind, A. Rieger, and F.A. Schildberg et al. NLRP3 inflammasome activity is negatively controlled by miR-223 J Immunol 189 2012 4175 4181
    • (2012) J Immunol , vol.189 , pp. 4175-4181
    • Bauernfeind, F.1    Rieger, A.2    Schildberg, F.A.3
  • 84
    • 74449090482 scopus 로고    scopus 로고
    • MiR-223 is overexpressed in T-lymphocytes of patients affected by rheumatoid arthritis
    • V. Fulci, G. Scappucci, and G.D. Sebastiani et al. miR-223 is overexpressed in T-lymphocytes of patients affected by rheumatoid arthritis Hum Immunol 71 2010 206 211
    • (2010) Hum Immunol , vol.71 , pp. 206-211
    • Fulci, V.1    Scappucci, G.2    Sebastiani, G.D.3
  • 85
    • 58049186787 scopus 로고    scopus 로고
    • Suppression of LPS-induced Interferon-gamma and nitric oxide in splenic lymphocytes by select estrogen-regulated microRNAs: A novel mechanism of immune modulation
    • R. Dai, R.A. Phillips, and Y. Zhang et al. Suppression of LPS-induced Interferon-gamma and nitric oxide in splenic lymphocytes by select estrogen-regulated microRNAs: a novel mechanism of immune modulation Blood 112 2008 4591 4597
    • (2008) Blood , vol.112 , pp. 4591-4597
    • Dai, R.1    Phillips, R.A.2    Zhang, Y.3
  • 86
    • 82755189251 scopus 로고    scopus 로고
    • Selective upregulation of microRNA expression in peripheral blood leukocytes in IL-10-/- mice precedes expression in the colon
    • J.S. Schaefer, D. Montufar-Solis, and N. Vigneswaran et al. Selective upregulation of microRNA expression in peripheral blood leukocytes in IL-10-/- mice precedes expression in the colon J Immunol 187 2011 5834 5841
    • (2011) J Immunol , vol.187 , pp. 5834-5841
    • Schaefer, J.S.1    Montufar-Solis, D.2    Vigneswaran, N.3
  • 87
    • 62249133709 scopus 로고    scopus 로고
    • Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
    • M. Guttman, I. Amit, and M. Garber et al. Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals Nature 458 2009 223 227
    • (2009) Nature , vol.458 , pp. 223-227
    • Guttman, M.1    Amit, I.2    Garber, M.3
  • 88
    • 84879969127 scopus 로고    scopus 로고
    • Ribosome profiling provides evidence that large noncoding RNAs do not encode proteins
    • M. Guttman, P. Russell, and N.T. Ingolia et al. Ribosome profiling provides evidence that large noncoding RNAs do not encode proteins Cell 154 2013 240 251
    • (2013) Cell , vol.154 , pp. 240-251
    • Guttman, M.1    Russell, P.2    Ingolia, N.T.3
  • 89
    • 84892923750 scopus 로고    scopus 로고
    • The long noncoding RNA THRIL regulates TNFalpha expression through its interaction with hnRNPL
    • Z. Li, T.C. Chao, and K.Y. Chang et al. The long noncoding RNA THRIL regulates TNFalpha expression through its interaction with hnRNPL Proc Natl Acad Sci U S A 111 2014 1002 1007
    • (2014) Proc Natl Acad Sci U S A , vol.111 , pp. 1002-1007
    • Li, Z.1    Chao, T.C.2    Chang, K.Y.3
  • 90
    • 0038371368 scopus 로고    scopus 로고
    • Tmevpg1, a candidate gene for the control of Theiler's virus persistence, could be implicated in the regulation of gamma interferon
    • S. Vigneau, P.S. Rohrlich, and M. Brahic et al. Tmevpg1, a candidate gene for the control of Theiler's virus persistence, could be implicated in the regulation of gamma interferon J Virol 77 2003 5632 5638
    • (2003) J Virol , vol.77 , pp. 5632-5638
    • Vigneau, S.1    Rohrlich, P.S.2    Brahic, M.3
  • 91
    • 84865425772 scopus 로고    scopus 로고
    • Cutting edge: Influence of Tmevpg1, a long intergenic noncoding RNA, on the expression of Ifng by Th1 cells
    • S.P. Collier, P.L. Collins, and C.L. Williams et al. Cutting edge: influence of Tmevpg1, a long intergenic noncoding RNA, on the expression of Ifng by Th1 cells J Immunol 189 2012 2084 2088
    • (2012) J Immunol , vol.189 , pp. 2084-2088
    • Collier, S.P.1    Collins, P.L.2    Williams, C.L.3
  • 92
    • 84874025014 scopus 로고    scopus 로고
    • The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-gamma locus
    • J.A. Gomez, O.L. Wapinski, and Y.W. Yang et al. The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-gamma locus Cell 152 2013 743 754
    • (2013) Cell , vol.152 , pp. 743-754
    • Gomez, J.A.1    Wapinski, O.L.2    Yang, Y.W.3
  • 93
  • 94
    • 33746876396 scopus 로고    scopus 로고
    • Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    • R. Goldbach-Mansky, N.J. Dailey, and S.W. Canna et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition N Engl J Med 355 2006 581 592
    • (2006) N Engl J Med , vol.355 , pp. 581-592
    • Goldbach-Mansky, R.1    Dailey, N.J.2    Canna, S.W.3
  • 95
    • 66649121678 scopus 로고    scopus 로고
    • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    • I. Aksentijevich, S.L. Masters, and P.J. Ferguson et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist N Engl J Med 360 2009 2426 2437
    • (2009) N Engl J Med , vol.360 , pp. 2426-2437
    • Aksentijevich, I.1    Masters, S.L.2    Ferguson, P.J.3
  • 96
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • D.B. Goldstein Common genetic variation and human traits N Engl J Med 360 2009 1696 1698
    • (2009) N Engl J Med , vol.360 , pp. 1696-1698
    • Goldstein, D.B.1
  • 97
    • 84887010498 scopus 로고    scopus 로고
    • Genome engineering using the CRISPR-Cas9 system
    • F.A. Ran, P.D. Hsu, and J. Wright et al. Genome engineering using the CRISPR-Cas9 system Nat Protoc 8 2013 2281 2308 Diseases
    • (2013) Nat Protoc , vol.8 , pp. 2281-2308
    • Ran, F.A.1    Hsu, P.D.2    Wright, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.