메뉴 건너뛰기




Volumn 3, Issue 1, 2013, Pages 1-7

Gene hunting in autoinflammation

Author keywords

Autoinflammatory diseases; CANDLE; CAPS; Genetic mapping; NGS

Indexed keywords

ARTICLE; AUTOINFLAMMATORY DISEASE; DATA ANALYSIS; DISEASE PREDISPOSITION; DNA SEQUENCE; EXOME; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC LINKAGE; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN GENETICS; HUMAN GENOME; MICROSATELLITE MARKER; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85006171187     PISSN: None     EISSN: 20457022     Source Type: Journal    
DOI: 10.1186/2045-7022-3-32     Document Type: Article
Times cited : (8)

References (54)
  • 2
    • 77950363011 scopus 로고    scopus 로고
    • Autoinflammatory disease reloaded: a clinical perspective
    • 3541025 1:CAS:528:DC%2BC3cXlsVSgurk%3D 20303869
    • Kastner DL, Aksentijevich I, Goldbach-Mansky R: Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010, 140: 784-790. 10.1016/j.cell.2010.03.002.
    • (2010) Cell , vol.140 , pp. 784-790
    • Kastner, D.L.1    Aksentijevich, I.2    Goldbach-Mansky, R.3
  • 5
    • 19244362693 scopus 로고    scopus 로고
    • Localization of the familial mediterranean fever gene to a 250-kb interval in non Ashkenazi Jewish founder haplotypes
    • French F.M.F.Consortium
    • French F.M.F.Consortium:Localization of the familial mediterranean fever gene to a 250-kb interval in non Ashkenazi Jewish founder haplotypes. Am J Hum Genet. 1996, 59: 603-612.
    • (1996) Am J Hum Genet , vol.59 , pp. 603-612
  • 6
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French F.M.F.Consortium
    • French F.M.F.Consortium: A candidate gene for familial Mediterranean fever. Nat gene. 1997, 17: 25-31.
    • (1997) Nat gene , vol.17 , pp. 25-31
  • 10
    • 0033940611 scopus 로고    scopus 로고
    • Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
    • 1378006 1:CAS:528:DC%2BD3cXntV2iu7g%3D 10741953
    • Hoffman HM, Wright FA, Broide DH, Wanderer AA, Kolodner RD: Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria. Am J Hum Genet. 2000, 66: 1693-1698. 10.1086/302874.
    • (2000) Am J Hum Genet , vol.66 , pp. 1693-1698
    • Hoffman, H.M.1    Wright, F.A.2    Broide, D.H.3    Wanderer, A.A.4    Kolodner, R.D.5
  • 11
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • 1:CAS:528:DC%2BD38Xlt1Krtrs%3D
    • Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, Basile GS: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Human Gene. 2002, 71: 198-203. 10.1086/341357.
    • (2002) Am J Human Gene , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3    Berquin, P.4    Certain, S.5    Cortis, E.6    Teillac-Hamel, D.7    Fischer, A.8    Basile, G.S.9
  • 17
    • 0037091012 scopus 로고    scopus 로고
    • Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    • 1:CAS:528:DC%2BD38XjtlGktrk%3D 11971877
    • Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002, 11: 961-969. 10.1093/hmg/11.8.961.
    • (2002) Hum Mol Genet , vol.11 , pp. 961-969
    • Wise, C.A.1    Gillum, J.D.2    Seidman, C.E.3    Lindor, N.M.4    Veile, R.5    Bashiardes, S.6    Lovett, M.7
  • 18
    • 0033695228 scopus 로고    scopus 로고
    • Localization of a gene for familial recurrent arthritis
    • 1:CAS:528:DC%2BD3cXnt1KnsL4%3D 11014354
    • Wise CA, Bennett LB, Pascual V, Gillum JD, Bowcock AM: Localization of a gene for familial recurrent arthritis. Arthritis Rheum. 2000, 43: 2041-2045. 10.1002/1529-0131(200009)43:9<2041::AID-ANR15>3.0.CO;2-G.
    • (2000) Arthritis Rheum , vol.43 , pp. 2041-2045
    • Wise, C.A.1    Bennett, L.B.2    Pascual, V.3    Gillum, J.D.4    Bowcock, A.M.5
  • 19
    • 0033912687 scopus 로고    scopus 로고
    • Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q
    • 1:CAS:528:DC%2BD3cXntV2isLY%3D
    • Yeon HB, Lindor NM, Seidman JG, Seidman CE: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q. Am J Human Gene. 2000, 66: 1443-1448. 10.1086/302866.
    • (2000) Am J Human Gene , vol.66 , pp. 1443-1448
    • Yeon, H.B.1    Lindor, N.M.2    Seidman, J.G.3    Seidman, C.E.4
  • 21
    • 1842740034 scopus 로고    scopus 로고
    • Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation
    • 1:CAS:528:DC%2BD2cXjt1Smsb8%3D 15086578
    • Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y: Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol. 2004, 122: 851-852. 10.1111/j.0022-202X.2004.22341.x.
    • (2004) J Invest Dermatol , vol.122 , pp. 851-852
    • Kanazawa, N.1    Matsushima, S.2    Kambe, N.3    Tachibana, T.4    Nagai, S.5    Miyachi, Y.6
  • 22
    • 22244469461 scopus 로고    scopus 로고
    • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
    • 1736104 1:CAS:528:DC%2BD2MXnsVehsLY%3D 15994876
    • Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H: Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005, 42: 551-557. 10.1136/jmg.2005.030759.
    • (2005) J Med Genet , vol.42 , pp. 551-557
    • Ferguson, P.J.1    Chen, S.2    Tayeh, M.K.3    Ochoa, L.4    Leal, S.M.5    Pelet, A.6    Munnich, A.7    Lyonnet, S.8    Majeed, H.A.9    El-Shanti, H.10
  • 23
    • 0033024292 scopus 로고    scopus 로고
    • Genetic Mapping of a Maternal Locus Responsible for Familial Hydatidiform Moles
    • 1:CAS:528:DyaK1MXitlGns78%3D 10.1093/hmg/8.4.667 10072436
    • Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R: Genetic Mapping of a Maternal Locus Responsible for Familial Hydatidiform Moles. Hum Mol Genet. 1999, 8: 667-10.1093/hmg/8.4.667.
    • (1999) Hum Mol Genet , vol.8 , pp. 667
    • Moglabey, Y.B.1    Kircheisen, R.2    Seoud, M.3    El Mogharbel, N.4    Van Den Veyver, I.5    Slim, R.6
  • 24
    • 33644615366 scopus 로고    scopus 로고
    • Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
    • 1:CAS:528:DC%2BD28XhslCjtrk%3D 10.1038/ng1740 16462743
    • Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B:Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006, 38: 300-302. 10.1038/ng1740.
    • (2006) Nat Genet , vol.38 , pp. 300-302
    • Murdoch, S.1    Djuric, U.2    Mazhar, B.3    Seoud, M.4    Khan, R.5    Kuick, R.6    Bagga, R.7    Kircheisen, R.8    Ao, A.9    Ratti, B.10
  • 29
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the B5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • 2997366 1:CAS:528:DC%2BC3cXhsFags7fO 10.1016/j.ajhg.2010.10.031 21129723
    • Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martinez De Villarreal L, Dos Santos HG, Garg A:PSMB8 encoding the B5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010, 87: 866-872. 10.1016/j.ajhg.2010.10.031.
    • (2010) Am J Hum Genet , vol.87 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    DeMartino, G.N.3    Mizrachi, D.4    Hernandez, M.D.5    Sousa, A.B.6    Martinez De Villarreal, L.7    Dos Santos, H.G.8    Garg, A.9
  • 39
    • 0026653798 scopus 로고
    • Mapping of a gene causing Familial Mediterranean Fever to the short arm of chromosome 16
    • 1:STN:280:DyaK383lt1yksw%3D%3D 10.1056/NEJM199206043262301 1579134
    • Pras E, Aksentijevich I, Gruberg L, Balow JE, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL:Mapping of a gene causing Familial Mediterranean Fever to the short arm of chromosome 16. N Engl J Med. 1992, 326: 1509-1513. 10.1056/NEJM199206043262301.
    • (1992) N Engl J Med , vol.326 , pp. 1509-1513
    • Pras, E.1    Aksentijevich, I.2    Gruberg, L.3    Balow, J.E.4    Prosen, L.5    Dean, M.6    Steinberg, A.D.7    Pras, M.8    Kastner, D.L.9
  • 40
    • 0028110433 scopus 로고
    • The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families
    • 1:CAS:528:DyaK2MXivFWnsLg%3D 7959700
    • Pras E, Aksentijevich I, Levy E, Gruberg L, Prosen L, Dean M, Pras M, Kastner D: The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. Hum Genet. 1994, 94: 576-577.
    • (1994) Hum Genet , vol.94 , pp. 576-577
    • Pras, E.1    Aksentijevich, I.2    Levy, E.3    Gruberg, L.4    Prosen, L.5    Dean, M.6    Pras, M.7    Kastner, D.8
  • 41
    • 0027082844 scopus 로고
    • Mapping of the familial Mediterranean fever gene to chromosome 16
    • 1:STN:280:DyaK3s7lvFKjtQ%3D%3D 10.1111/j.1600-0897.1992.tb00803.x 1285890
    • Gruberg L, Aksentijevich I, Pras E, Kastner DL, Pras M: Mapping of the familial Mediterranean fever gene to chromosome 16. Am J Reprod Immunol. 1992, 28: 241-10.1111/j.1600-0897.1992.tb00803.x.
    • (1992) Am J Reprod Immunol , vol.28 , pp. 241
    • Gruberg, L.1    Aksentijevich, I.2    Pras, E.3    Kastner, D.L.4    Pras, M.5
  • 42
    • 11944268511 scopus 로고
    • The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity
    • 1682901 1:CAS:528:DyaK3sXhvVCrsLg%3D 1463015
    • Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI:The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet. 1992, 51: 1349-
    • (1992) Am J Hum Genet , vol.51 , pp. 1349
    • Shohat, M.1    Bu, X.2    Shohat, T.3    Fischel-Ghodsian, N.4    Magal, N.5    Nakamura, Y.6    Schwabe, A.D.7    Schlezinger, M.8    Danon, Y.9    Rotter, J.I.10
  • 43
    • 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 F.M.F.Consortium 10.1016/S0092-8674(00)80539-5
    • The International F.M.F.Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997, 90: 797-807. 10.1016/S0092-8674(00)80539-5.
    • (1997) Cell , vol.90 , pp. 797-807
  • 45
    • 80855144107 scopus 로고    scopus 로고
    • Genome-wide association studies in Behcet's disease: expectations and promises
    • 21968232
    • Gul A: Genome-wide association studies in Behcet's disease: expectations and promises. Clin Exp Rheumatol. 2011, 29: S3-S5.
    • (2011) Clin Exp Rheumatol , vol.29 , pp. S3-S5
    • Gul, A.1
  • 46
    • 79954479289 scopus 로고    scopus 로고
    • Genome-wide association studies and Crohns disease
    • 1:CAS:528:DC%2BC3MXjvFejtLg%3D 10.1093/bfgp/elr009 21436303
    • Lee JC, Parkes M: Genome-wide association studies and Crohns disease. Brief Funct Genomics. 2011, 10: 71-76. 10.1093/bfgp/elr009.
    • (2011) Brief Funct Genomics , vol.10 , pp. 71-76
    • Lee, J.C.1    Parkes, M.2
  • 48
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • 1:CAS:528:DC%2BC3cXpsFWksLo%3D 10.1038/nmeth0810-575 20676075
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010, 7: 575-576. 10.1038/nmeth0810-575.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 49
    • 84861819490 scopus 로고    scopus 로고
    • Detection of identity by descent using next-generation whole genome sequencing data
    • 3403908 1:CAS:528:DC%2BC38XhtFamsrnI 10.1186/1471-2105-13-121 22672699
    • Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E: Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics. 2012, 13: 121-10.1186/1471-2105-13-121.
    • (2012) BMC Bioinformatics , vol.13 , pp. 121
    • Su, S.Y.1    Kasberger, J.2    Baranzini, S.3    Byerley, W.4    Liao, W.5    Oksenberg, J.6    Sherr, E.7    Jorgenson, E.8
  • 50
    • 84862600977 scopus 로고    scopus 로고
    • Next-generation sequencing approaches for genetic mapping of complex diseases
    • 1:CAS:528:DC%2BC38XhsVaqtbc%3D 10.1016/j.jneuroim.2011.12.017 22285396
    • Casals F, Idaghdour Y, Hussin J, Awadalla P: Next-generation sequencing approaches for genetic mapping of complex diseases. J Neuroimmunol. 2012, 248: 10-22. 10.1016/j.jneuroim.2011.12.017.
    • (2012) J Neuroimmunol , vol.248 , pp. 10-22
    • Casals, F.1    Idaghdour, Y.2    Hussin, J.3    Awadalla, P.4
  • 52
    • 80155148684 scopus 로고    scopus 로고
    • High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study
    • 3498501 1:CAS:528:DC%2BC3MXhtlOksLnP 10.1002/art.30512 21702021
    • Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R:High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011, 63: 3625-3632. 10.1002/art.30512.
    • (2011) Arthritis Rheum , vol.63 , pp. 3625-3632
    • Tanaka, N.1    Izawa, K.2    Saito, M.K.3    Sakuma, M.4    Oshima, K.5    Ohara, O.6    Nishikomori, R.7    Morimoto, T.8    Kambe, N.9    Goldbach-Mansky, R.10
  • 53
    • 84856200151 scopus 로고    scopus 로고
    • Exome sequencing: dual role as a discovery and diagnostic tool
    • 1:CAS:528:DC%2BC38XhtFCqsbY%3D 10.1002/ana.22647 22275248
    • Ku C-S, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R: Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012, 71: 5-14. 10.1002/ana.22647.
    • (2012) Ann Neurol , vol.71 , pp. 5-14
    • Ku, C.-S.1    Cooper, D.N.2    Polychronakos, C.3    Naidoo, N.4    Wu, M.5    Soong, R.6
  • 54
    • 84859610203 scopus 로고    scopus 로고
    • Return of results: not that complicated?
    • 10.1038/gim.2012.8 22481183
    • Evans JP, Rothschild BB: Return of results: not that complicated?. Genet Med. 2012, 14: 358-360. 10.1038/gim.2012.8.
    • (2012) Genet Med , vol.14 , pp. 358-360
    • Evans, J.P.1    Rothschild, B.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.