PSORS2 Is Due to Mutations in CARD14
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
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
Tomfohrde, 1994, Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q, Science, 264, 1141, 10.1126/science.8178173
Nair, 1997, Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan, Hum. Mol. Genet., 6, 1349, 10.1093/hmg/6.8.1349
Hwu, 2005, Mapping of psoriasis to 17q terminus, J. Med. Genet., 42, 152, 10.1136/jmg.2004.018564
Helms, 2003, A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis, Nat. Genet., 35, 349, 10.1038/ng1268
Speckman, 2003, Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility, Hum. Genet., 112, 34, 10.1007/s00439-002-0851-y
Yang, 2008, A promoter sequence variant of ZNF750 is linked with familial psoriasis, J. Invest. Dermatol., 128, 1662, 10.1038/jid.2008.1
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
Kaur, 1989, Immortalization of primary human epithelial cells by cloned cervical carcinoma DNA containing human papillomavirus type 16 E6/E7 open reading frames, J. Gen. Virol., 70, 1261, 10.1099/0022-1317-70-5-1261
Chapman, 2010, Human keratinocytes are efficiently immortalized by a Rho kinase inhibitor, J. Clin. Invest., 120, 2619, 10.1172/JCI42297
Harbour, 2010, Frequent mutation of BAP1 in metastasizing uveal melanomas, Science, 330, 1410, 10.1126/science.1194472
Ng, 2009, Targeted capture and massively parallel sequencing of 12 human exomes, Nature, 461, 272, 10.1038/nature08250
Singh, 2006, Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing, Biotechniques, 41, 177, 10.2144/000112208
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
Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat. Methods, 7, 248, 10.1038/nmeth0410-248
Kumar, 2009, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat. Protoc., 4, 1073, 10.1038/nprot.2009.86
Kent, 2002, The human genome browser at UCSC, Genome Res., 12, 996, 10.1101/gr.229102. Article published online before print in May 2002
Chenna, 2003, Multiple sequence alignment with the Clustal series of programs, Nucleic Acids Res., 31, 3497, 10.1093/nar/gkg500
Larkin, 2007, Clustal W and Clustal X version 2.0, Bioinformatics, 23, 2947, 10.1093/bioinformatics/btm404
Marrakchi, 2011, Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis, N. Engl. J. Med., 365, 620, 10.1056/NEJMoa1013068
Onoufriadis, 2011, Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis, Am. J. Hum. Genet., 89, 432, 10.1016/j.ajhg.2011.07.022
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
2010, A map of human genome variation from population-scale sequencing, Nature, 467, 1061, 10.1038/nature09534
Jordan, 2012, Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis, Am. J. Hum. Genet., 90, 10.1016/j.ajhg.2012.03.013
Scudiero, 2011, Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death, J. Cell. Physiol., 226, 3121, 10.1002/jcp.22667
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
Jun, 2003, Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis, Immunity, 18, 751, 10.1016/S1074-7613(03)00141-9
Prots, 2006, Association of the IL4R single-nucleotide polymorphism I50V with rapidly erosive rheumatoid arthritis, Arthritis Rheum., 54, 1491, 10.1002/art.21832
Blonska, 2011, NF-κB signaling pathways regulated by CARMA family of scaffold proteins, Cell Res., 21, 55, 10.1038/cr.2010.182
Lizzul, 2005, Differential expression of phosphorylated NF-kappaB/RelA in normal and psoriatic epidermis and downregulation of NF-kappaB in response to treatment with etanercept, J. Invest. Dermatol., 124, 1275, 10.1111/j.0022-202X.2005.23735.x
Stein, 1995, Repression of the interleukin-6 promoter by estrogen receptor is mediated by NF-kappa B and C/EBP beta, Mol. Cell. Biol., 15, 4971, 10.1128/MCB.15.9.4971
Banno, 2005, Pathway-specific profiling identifies the NF-kappa B-dependent tumor necrosis factor alpha-regulated genes in epidermal keratinocytes, J. Biol. Chem., 280, 18973, 10.1074/jbc.M411758200
Banno, 2004, Effects of tumor necrosis factor-alpha (TNF alpha) in epidermal keratinocytes revealed using global transcriptional profiling, J. Biol. Chem., 279, 32633, 10.1074/jbc.M400642200
Sticherling, 1999, Interleukin-8 plays its role at local level in psoriasis vulgaris, Acta Derm. Venereol., 79, 4, 10.1080/000155599750011606
Thapa, 2011, NF-kappaB protects cells from gamma interferon-induced RIP1-dependent necroptosis, Mol. Cell. Biol., 31, 2934, 10.1128/MCB.05445-11
Kennedy-Crispin, 2012, Human Keratinocytes' Response to Injury Upregulates CCL20 and Other Genes Linking Innate and Adaptive Immunity, J Invest Dermatol., 132, 105, 10.1038/jid.2011.262
Johnston, 2011, IL-1F5, -F6, -F8, and -F9: a novel IL-1 family signaling system that is active in psoriasis and promotes keratinocyte antimicrobial peptide expression, J. Immunol., 186, 2613, 10.4049/jimmunol.1003162
Stilo, 2008, A20 is a negative regulator of BCL10- and CARMA3-mediated activation of NF-kappaB, J. Cell Sci., 121, 1165, 10.1242/jcs.021105