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Volumn 12, Issue , 2011, Pages

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; PYRIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; MARENOSTRIN;

EID: 79961109945     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-105     Document Type: Article
Times cited : (36)

References (27)
  • 1
    • 27344448749 scopus 로고    scopus 로고
    • Familial autoinflammatory diseases: genetics, pathogenesis and treatment
    • 10.1097/bor.0000174210.78449.6b, 16093838
    • Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005, 17(5):586-99. 10.1097/bor.0000174210.78449.6b, 16093838.
    • (2005) Curr Opin Rheumatol , vol.17 , Issue.5 , pp. 586-599
    • Stojanov, S.1    Kastner, D.L.2
  • 2
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium
    • 10.1016/S0092-8674(00)80539-5, 9288758
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997, 90(4):797-807. 10.1016/S0092-8674(00)80539-5, 9288758.
    • (1997) Cell , vol.90 , Issue.4 , pp. 797-807
  • 4
    • 0037249569 scopus 로고    scopus 로고
    • INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
    • INFEVERS database, 10.1093/nar/gkg031, 165478, 12520003
    • Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou IL. INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003, 31(1):282-5. INFEVERS database, 10.1093/nar/gkg031, 165478, 12520003., http://fmf.igh.cnrs.fr/ISSAID/infevers/
    • (2003) Nucleic Acids Res , vol.31 , Issue.1 , pp. 282-285
    • Sarrauste de Menthière, C.1    Terrière, S.2    Pugnère, D.3    Ruiz, M.4    Demaille, J.5    Touitou, I.L.6
  • 7
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • 10.1073/pnas.0602081103, 1479864, 16785446
    • Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006, 103(26):9982-7. 10.1073/pnas.0602081103, 1479864, 16785446.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.26 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3    Richard, K.4    Park, G.5    Smith, B.J.6    Kastner, D.L.7
  • 8
    • 69049085064 scopus 로고    scopus 로고
    • Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy
    • 10.1111/j.1365-2141.2009.07733.x, 2759843, 19466978
    • Chae JJ, Aksentijevich I, Kastner DL. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol 2009, 146(5):467-78. 10.1111/j.1365-2141.2009.07733.x, 2759843, 19466978.
    • (2009) Br J Haematol , vol.146 , Issue.5 , pp. 467-478
    • Chae, J.J.1    Aksentijevich, I.2    Kastner, D.L.3
  • 9
    • 0034642299 scopus 로고    scopus 로고
    • Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus
    • 10.1093/hmg/9.20.3001, 11115844
    • Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet 2000, 9:3001-3009. 10.1093/hmg/9.20.3001, 11115844.
    • (2000) Hum Mol Genet , vol.9 , pp. 3001-3009
    • Papin, S.1    Duquesnoy, P.2    Cazeneuve, C.3    Pantel, J.4    Coppey-Moisan, M.5    Dargemont, C.6    Amselem, S.7
  • 10
    • 8444230096 scopus 로고    scopus 로고
    • Lipopolysaccharide-induced expression of multiple alternatively spliced mefv transcripts in human synovial fibroblasts: A prominent splice isoform lacks the c-terminal domain that is highly mutated in familial mediterranean fever
    • 10.1002/art.20600, 15529356
    • Diaz A, Hu C, Kastner DL, Schaner P, Reginato AM, Richards N, Gumucio DL. Lipopolysaccharide-induced expression of multiple alternatively spliced mefv transcripts in human synovial fibroblasts: A prominent splice isoform lacks the c-terminal domain that is highly mutated in familial mediterranean fever. Arthritis Rheum 2004, 50(11):3679-89. 10.1002/art.20600, 15529356.
    • (2004) Arthritis Rheum , vol.50 , Issue.11 , pp. 3679-3689
    • Diaz, A.1    Hu, C.2    Kastner, D.L.3    Schaner, P.4    Reginato, A.M.5    Richards, N.6    Gumucio, D.L.7
  • 11
    • 77953224474 scopus 로고    scopus 로고
    • 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
    • 2894788, 20534143
    • Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. BMC Med Genet 2010, 11:87. 2894788, 20534143.
    • (2010) BMC Med Genet , vol.11 , pp. 87
    • Medlej-Hashim, M.1    Nehme, N.2    Chouery, E.3    Jalkh, N.4    Megarbane, A.5
  • 12
    • 70450175507 scopus 로고    scopus 로고
    • Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay
    • 10.1093/hmg/ddp437, 19755381
    • Grandemange S, Soler S, Touitou I. Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay. Hum Mol Genet 2009, 18(24):4746-55. 10.1093/hmg/ddp437, 19755381.
    • (2009) Hum Mol Genet , vol.18 , Issue.24 , pp. 4746-4755
    • Grandemange, S.1    Soler, S.2    Touitou, I.3
  • 13
    • 0036822325 scopus 로고    scopus 로고
    • Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever
    • 10.1002/art.10575, 12384939
    • Notarnicola C, Didelot MN, Kone-Paut I, Seguret F, Demaille J, Touitou I. Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever. Arthritis Rheum 2002, 46(10):2785-93. 10.1002/art.10575, 12384939.
    • (2002) Arthritis Rheum , vol.46 , Issue.10 , pp. 2785-2793
    • Notarnicola, C.1    Didelot, M.N.2    Kone-Paut, I.3    Seguret, F.4    Demaille, J.5    Touitou, I.6
  • 14
    • 33846249524 scopus 로고    scopus 로고
    • Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation
    • 10.1002/art.22320, 17195238
    • Ustek D, Ekmekci CG, Selcukbiricik F, Cakiris A, Oku B, Vural B, Yanar H, Taviloglu K, Ozbek U, Gul A. Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation. Arthritis Rheum 2007, 56(1):345-50. 10.1002/art.22320, 17195238.
    • (2007) Arthritis Rheum , vol.56 , Issue.1 , pp. 345-350
    • Ustek, D.1    Ekmekci, C.G.2    Selcukbiricik, F.3    Cakiris, A.4    Oku, B.5    Vural, B.6    Yanar, H.7    Taviloglu, K.8    Ozbek, U.9    Gul, A.10
  • 16
    • 77956636426 scopus 로고    scopus 로고
    • Epigenome mapping in normal and disease States
    • 10.1161/CIRCRESAHA.110.222463, 2917837, 20689072
    • Maunakea AK, Chepelev I, Zhao K, Bruneau B. Epigenome mapping in normal and disease States. Circ Res 2010, 107(3):327-39. 10.1161/CIRCRESAHA.110.222463, 2917837, 20689072.
    • (2010) Circ Res , vol.107 , Issue.3 , pp. 327-339
    • Maunakea, A.K.1    Chepelev, I.2    Zhao, K.3    Bruneau, B.4
  • 17
    • 7544231794 scopus 로고    scopus 로고
    • Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells
    • 10.1038/nsmb840, 15467727
    • Lorincz MC, Dickerson DR, Schmitt M, Groudine M. Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells. Nat Struct Mol Biol 2004, 11(11):1068-75. 10.1038/nsmb840, 15467727.
    • (2004) Nat Struct Mol Biol , vol.11 , Issue.11 , pp. 1068-1075
    • Lorincz, M.C.1    Dickerson, D.R.2    Schmitt, M.3    Groudine, M.4
  • 18
    • 0034782528 scopus 로고    scopus 로고
    • Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148
    • Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J Med 2001, 94(10):527-531.
    • (2001) Q J Med , vol.94 , Issue.10 , pp. 527-531
    • Booth, D.R.1    Lachmann, H.J.2    Gillmore, J.D.3    Booth, S.E.4    Hawkins, P.N.5
  • 19
    • 44949231424 scopus 로고    scopus 로고
    • Analyzing real-time PCR data by the comparative C(T) method
    • 10.1038/nprot.2008.73, 18546601
    • Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc 2008, 3(6):1101-8. 10.1038/nprot.2008.73, 18546601.
    • (2008) Nat Protoc , vol.3 , Issue.6 , pp. 1101-1108
    • Schmittgen, T.D.1    Livak, K.J.2
  • 20
    • 0036856355 scopus 로고    scopus 로고
    • MethPrimer: designing primers for methylation PCRs
    • 10.1093/bioinformatics/18.11.1427, 12424112
    • Li LC, Dahiya R. MethPrimer: designing primers for methylation PCRs. Bioinformatics 2002, 18(11):1427-31. 10.1093/bioinformatics/18.11.1427, 12424112.
    • (2002) Bioinformatics , vol.18 , Issue.11 , pp. 1427-1431
    • Li, L.C.1    Dahiya, R.2
  • 21
    • 48449097251 scopus 로고    scopus 로고
    • QUMA: quantification tool for methylation analysis
    • Web Server
    • Kumaki Y, Oda M, Okano M. QUMA: quantification tool for methylation analysis. Nucleic Acids Res 2008, (36 Web Server):W170-5.
    • (2008) Nucleic Acids Res , Issue.36
    • Kumaki, Y.1    Oda, M.2    Okano, M.3
  • 22
    • 78349244476 scopus 로고    scopus 로고
    • Epigenetics in rheumatoid arthritis
    • 10.1007/s12016-009-8166-6, 19707891
    • Trenkmann M, Brock M, Ospelt C, Gay S. Epigenetics in rheumatoid arthritis. Clin Rev Allergy Immunol 2010, 39(1):10-9. 10.1007/s12016-009-8166-6, 19707891.
    • (2010) Clin Rev Allergy Immunol , vol.39 , Issue.1 , pp. 10-19
    • Trenkmann, M.1    Brock, M.2    Ospelt, C.3    Gay, S.4
  • 23
    • 49449106856 scopus 로고    scopus 로고
    • Methylation status of a single CpG site in the IL6 promoter is related to IL6 messenger RNA levels and rheumatoid arthritis
    • 10.1002/art.23758, 18759290
    • Nile CJ, Read RC, Akil M, Duff GW, Wilson AG. Methylation status of a single CpG site in the IL6 promoter is related to IL6 messenger RNA levels and rheumatoid arthritis. Arthritis Rheum 2008, 58(9):2686-93. 10.1002/art.23758, 18759290.
    • (2008) Arthritis Rheum , vol.58 , Issue.9 , pp. 2686-2693
    • Nile, C.J.1    Read, R.C.2    Akil, M.3    Duff, G.W.4    Wilson, A.G.5
  • 24
    • 77952584374 scopus 로고    scopus 로고
    • Chromatin density and splicing destiny: on the cross-talk between chromatin structure and splicing
    • 10.1038/emboj.2010.71, 2876972, 20407423
    • Schwartz S, Ast G. Chromatin density and splicing destiny: on the cross-talk between chromatin structure and splicing. The EMBO Journal 2010, 29(10):1629-1636. 10.1038/emboj.2010.71, 2876972, 20407423.
    • (2010) The EMBO Journal , vol.29 , Issue.10 , pp. 1629-1636
    • Schwartz, S.1    Ast, G.2
  • 25
    • 0142153406 scopus 로고    scopus 로고
    • Methylation at CpG islands in intron 1 of EGR2 confers enhancer-like activity
    • 10.1016/S0014-5793(03)01092-5, 14596916
    • Unokia M, Nakamura Y. Methylation at CpG islands in intron 1 of EGR2 confers enhancer-like activity. FEBS Letters 2003, 554(1-2):67-72. 10.1016/S0014-5793(03)01092-5, 14596916.
    • (2003) FEBS Letters , vol.554 , Issue.1-2 , pp. 67-72
    • Unokia, M.1    Nakamura, Y.2
  • 27
    • 79960000461 scopus 로고    scopus 로고
    • Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients
    • 10.1111/j.1744-313X.2011.01015.x, 21615705
    • Kirectepe AK, Erdem GC, Senturk N, Arisoy N, Hatemi G, Ozdogan H, Kasapcopur O, Tahir Turanli E. Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients. Int J Immunogenet 2011, 38(4):327-9. 10.1111/j.1744-313X.2011.01015.x, 21615705.
    • (2011) Int J Immunogenet , vol.38 , Issue.4 , pp. 327-329
    • Kirectepe, A.K.1    Erdem, G.C.2    Senturk, N.3    Arisoy, N.4    Hatemi, G.5    Ozdogan, H.6    Kasapcopur, O.7    Tahir Turanli, E.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.