Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis
Tài liệu tham khảo
Lowes, 2007, Pathogenesis and therapy of psoriasis, Nature, 445, 866, 10.1038/nature05663
Nograles, 2009, New insights into the pathogenesis and genetics of psoriatic arthritis, Nat. Clin. Pract. Rheumatol., 5, 83, 10.1038/ncprheum0987
Capon, 2008, Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene, Hum. Mol. Genet., 17, 1938, 10.1093/hmg/ddn091
Cargill, 2007, A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes, Am. J. Hum. Genet., 80, 273, 10.1086/511051
Ellinghaus, 2010, Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2, Nat. Genet., 42, 991, 10.1038/ng.689
Hüffmeier, 2010, Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis, Nat. Genet., 42, 996, 10.1038/ng.688
Liu, 2008, A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci, PLoS Genet., 4, e1000041, 10.1371/journal.pgen.1000041
Nair, 2009, Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways, Nat. Genet., 41, 199, 10.1038/ng.311
Strange, 2010, A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1, Nat. Genet., 42, 985, 10.1038/ng.694
Stuart, 2010, Genome-wide association analysis identifies three psoriasis susceptibility loci, Nat. Genet., 42, 1000, 10.1038/ng.693
Sun, 2010, Association analyses identify six new psoriasis susceptibility loci in the Chinese population, Nat. Genet., 42, 1005, 10.1038/ng.690
Elder, 2006, PSORS1: Linking genetics and immunology, J. Invest. Dermatol., 126, 1205, 10.1038/sj.jid.5700357
Nair, 2006, Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene, Am. J. Hum. Genet., 78, 827, 10.1086/503821
Vineis, 2011, Genome-wide association studies may be misinterpreted: Genes versus heritability, Carcinogenesis, 32, 1295, 10.1093/carcin/bgr087
Chen, 2011, A genetic risk score combining ten psoriasis risk loci improves disease prediction, PLoS ONE, 6, e19454, 10.1371/journal.pone.0019454
Bertin, 2001, CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B, J. Biol. Chem., 276, 11877, 10.1074/jbc.M010512200
Jordan, 2012, PSORS2 is Due to Mutations in CARD14, Am. J. Hum. Genet., 90, 10.1016/j.ajhg.2012.03.012
Purcell, 2007, PLINK: A tool set for whole-genome association and population-based linkage analyses, Am. J. Hum. Genet., 81, 559, 10.1086/519795
Price, 2010, Pooled association tests for rare variants in exon-resequencing studies, Am. J. Hum. Genet., 86, 832, 10.1016/j.ajhg.2010.04.005
R Development Core Team. (2011). R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. http://www.R-project.org.
Tomfohrde, 1994, Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q, Science, 264, 1141, 10.1126/science.8178173
Vincourt, 2003, Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules, FASEB J., 17, 890, 10.1096/fj.02-0787fje
Reimand, 2007, g:Profiler—a web-based toolset for functional profiling of gene lists from large-scale experiments, Nucleic Acids Res., 35
Ashburner, 2000, Gene ontology: Tool for the unification of biology, Nat. Genet., 25, 25, 10.1038/75556
Mehta, 2011, Attributable risk estimate of severe psoriasis on major cardiovascular events, Am J Med., 124, 775e1, 10.1016/j.amjmed.2011.03.028
Davidovici, 2010, Psoriasis and systemic inflammatory diseases: Potential mechanistic links between skin disease and co-morbid conditions, J. Invest. Dermatol., 130, 1785, 10.1038/jid.2010.103
Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat. Methods, 7, 248, 10.1038/nmeth0410-248
Suárez-Fariñas, 2010, Evaluation of the psoriasis transcriptome across different studies by gene set enrichment analysis (GSEA), PLoS ONE, 5, e10247, 10.1371/journal.pone.0010247
Moreno-García, 2010, MAGUK-controlled ubiquitination of CARMA1 modulates lymphocyte NF-kappaB activity, Mol. Cell. Biol., 30, 922, 10.1128/MCB.01129-09
Thome, 2010, Antigen receptor signaling to NF-kappaB via CARMA1, BCL10, and MALT1, Cold Spring Harb Perspect Biol, 2, a003004, 10.1101/cshperspect.a003004
Pasparakis, 2009, Regulation of tissue homeostasis by NF-kappaB signalling: Implications for inflammatory diseases, Nat. Rev. Immunol., 9, 778, 10.1038/nri2655
Wullaert, 2011, NF-κB in the regulation of epithelial homeostasis and inflammation, Cell Res., 21, 146, 10.1038/cr.2010.175
Lockwood, 2010, Integrative genomic analyses identify BRF2 as a novel lineage-specific oncogene in lung squamous cell carcinoma, PLoS Med., 7, e1000315, 10.1371/journal.pmed.1000315
Hwu, 2005, Mapping of psoriasis to 17q terminus, J. Med. Genet., 42, 152, 10.1136/jmg.2004.018564
Ogura, 2001, A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease, Nature, 411, 603, 10.1038/35079114
Hugot, 1996, Mapping of a susceptibility locus for Crohn's disease on chromosome 16, Nature, 379, 821, 10.1038/379821a0
van Heel, 2004, Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs, Hum. Mol. Genet., 13, 763, 10.1093/hmg/ddh090
Fisher, 2005, Meta-analysis of genome scans of age-related macular degeneration, Hum. Mol. Genet., 14, 2257, 10.1093/hmg/ddi230
Raychaudhuri, 2011, A rare penetrant mutation in CFH confers high risk of age-related macular degeneration, Nat. Genet., 43, 1232, 10.1038/ng.976
Elder, 2005, Fine mapping of the psoriasis susceptibility gene PSORS1: A reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6, J. Invest. Dermatol., 124, 921, 10.1111/j.0022-202X.2005.23729.x