Abstract
We are currently reaching a period of rapid data production. Several themes are already rising from the first wave of results. First, some genetic variants clearly predispose to multiple autoimmune diseases, thus providing evidence for a shared autoimmune genetic background. Second, multiple genes a...
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PMID: 20863905
PDF is available here.
Abstract
We found that the expression levels of interferon regulatory factor 5 (IRF5), a lupus susceptibility factor, depend on gender of mice. We found that steady-state levels of the Irf5 mRNA were relatively higher in splenic cells from certain autoimmune-prone mice (for example, NZB and NZB/W F(1)) than...
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PMID: 20802013
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Valérie Staudt,
Evita Bothur,
Matthias Klein,
Karen Lingnau,
Sebastian Reuter,
Nadine Grebe,
Bastian Gerlitzki,
Markus Hoffmann,
Alexander Ulges,
Christian Taube,
Nina Dehzad,
Marc Becker,
Michael Stassen,
Andrea Steinborn,
Michael Lohoff,
Hansjörg Schild,
Edgar Schmitt and
Tobias Bopp
Abstract
We report that IRF4 is also crucial for the development and function of an interleukin-9 (IL-9)-producing CD4(+) T cell subset designated Th9. IRF4-deficient CD4(+) T cells failed to develop into IL-9-producing Th9 cells, and IRF4-specific siRNA inhibited IL-9 production in wild-type CD4(+) T cells....
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PMID: 20674401
PDF is available here.
Abstract
We report a case of VWS with lower lip pits as its main clinical manifestation without associated cleft in lip or palate. No mutation or deletion was found in the IRF6 gene or promoter site, indicating the heterogeneity of this defect....
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PMID: 20818247
PDF is available here.
Abstract
We describe 2 novel Italian families with VWS harboring 2 distinct splice site mutations in the IRF6 gene. These results add to the previous 9 splicing mutations identified in patients with VWS and strengthen the importance of this type of alterations in the pathogenesis of the disease....
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PMID: 20856073
PDF is available here.
Abstract
We examined these three SNPs in a northern Chinese population and found an association between these polymorphisms and NSCLP in both single-marker and haplotype analyses. Our data further strengthen the conclusion that altered CRISPLD2 is associated with NSCLP susceptibility.
(c) 2010 The Authors. J...
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PMID: 20662919
PDF is available here.
Abstract
We used bead-array technology and coupled methylation-specific PCR to identify new genes showing cancer-specific methylation in HCC. Twenty-four new genes have been identified as hypermethylated at their promoter CpG island loci in a cancer-specific manner. Of these, TNFRSF10C, HOXA9, NPY, and IRF5...
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PMID: 20676325
PDF is available here.
Abstract
We examined the influence of IFN-I on the development of CD8+ T-cell responses during this infection. Mice lacking the receptor for IFN-I (IFNARKO) and their wild-type counterparts both developed chronic infections and generated similar frequencies of immunodominant TSKB20- and subdominant TSKB18-sp...
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PMID: 20457790
PDF is available here.
Naomi Shimokawa,
Chiharu Nishiyama,
Nobuhiro Nakano,
Keiko Maeda,
Ryuyo Suzuki,
Mutsuko Hara,
Tatsuo Fukai,
Tomoko Tokura,
Hiroaki Miyajima,
Atsuhito Nakao,
Hideoki Ogawa and
Ko Okumura
Abstract
These results indicate that GATA-1 suppresses PU.1 function but not PU.1 transcription. Thus, GATA-1 appears to determine cell fate by regulating several cell-specific transcription factors....
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PMID: 20405120
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Abstract
We therefore cloned the coding sequence of Atlantic salmon (As) IRF1, IRF2, IRF3 and IRF7B. Expression profiles were studied in Atlantic salmon TO cells after poly I:C (dsRNA) transfection, treatment with recombinant salmon IFNa1 and infection with infectious salmon anemia virus (ISAV). The main fin...
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PMID: 20494444
PDF is available here.
Abstract
The third lineage of T helper subsets, Th17, has recently been identified as an IL- 17-producing CD4+ Th cell, and its functions and regulatory mechanisms have been extensively characterized in immune responses. Functional studies have provided evidence that Th17 cells are important for the modulati...
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PMID: 20499411
PDF is available here.
Abstract
We reviewed the literature on MUM1/IRF4, with emphasis on the pathologic aspects of this marker in reactive and malignant hematologic and nonhematologic conditions....
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PMID: 20182347
PDF is available here.
Abstract
We demonstrate a requirement for IRF5 in the development of murine SLE via its role in B lymphocytes. We show that antinuclear autoantibodies and Ig glomerular deposits, hallmarks of SLE, are absent in Irf5(-/-) mice challenged to develop SLE by pristane injection. In particular, production of autoa...
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PMID: 20479222
PDF is available here.
Philippe P Dieude,
Karen K Dawidowicz,
Mickaël M Guedj,
Yona Y Legrain,
Julien J Wipff,
Eric E Hachulla,
Elisabeth E Diot,
Jean J Sibilia,
Luc L Mouthon,
Jean J Cabane,
Zahir Z Amoura,
Jean-Luc JL Crakowski,
Patrick P Carpentier,
Jerome J Avouac,
Olivier O Meyer,
Andre A Kahan,
Catherine C Boileau and
Yannick Y Allanore
Abstract
Case-control studies of single markers revealed an association between IRF5 rs3757385, rs2004640, and rs10954213 variants and SSc. We identified an IRF5 risk haplotype "R" (p(adj) = 0.024, OR 1.23, 95% CI 1.07-1.40) and a mirrored protective haplotype "P" (p(adj) = 8.8 x 10(-3), OR 0.78, 95% CI 0.68...
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PMID: 20231204
PDF is available here.
Abstract
We hypothesized that MUM1 may be dysregulated/up-regulated in these tumors by a chromosomal translocation, as is seen in many cases of plasma cell myeloma [where MUM1 is juxtaposed with the immunoglobulin heavy chain gene (IgH)]. Therefore, using a novel MUM1 break-apart probe constructed in our lab...
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PMID: 18815567
PDF is available here.
Abstract
We previously showed that physiologic levels of estradiol, acting through estrogen receptor alpha (ERalpha), promote the GM-CSF-mediated differentiation of a CD11b(+) DC subset from myeloid progenitors (MPs). We now have identified interferon regulatory factor 4 (IRF4), a transcription factor induce...
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PMID: 19880499
PDF is available here.
Abstract
We discuss our findings on some of such genes, interferon regulatory factor 5 (IRF5), signal transducer and activator of transcription 4 (STAT4) and B lymphoid tyrosine kinase (BLK), in the Japanese population. All of these genes were associated with SLE also in Japanese; however, there are notable...
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PMID: 20453440
PDF is available here.
Abstract
We hypothesized that single nucleotide polymorphisms (SNPs) in TNFR1 gene may influence the innate immune response against Aspergillus. Three SNPs were genotyped in 275 individuals (144 immunocompromised haematological patients with high-risk of developing IPA and 131 healthy controls): TNFR1(-383(A...
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PMID: 20646338
PDF is available here.
Abstract
We have recently reported an association of IgAN with variants of TGFB1. In several autoimmune diseases, particularly in SLE, IRF5, STAT4 genes and TRAF1-C5 locus have been shown to be important candidate genes. The aim of this study was to compare genetic variants from the TGFB1, IRF5, STAT4 genes...
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PMID: 20479942
PDF is available here.
Abstract
We studied a series of 16 patients with nodal DLBCL occurring in patients between 10 and 18 years of age. The cases were classified according to the 2008 World Health Organization classification criteria, with application of immunohistochemistry for the detection of CD10, BCL-6, and MUM1 proteins to...
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PMID: 19816150
PDF is available here.
Abstract
We show that the response to IFN-gamma is long lasting but secondary: initial STAT1 activation drives IRF1 synthesis, and IRF1 then binds to IFN-stimulated regulatory elements (ISREs) in the ip-10 promoter. The promoters of most IKK-beta-dependent IFN-stimulated genes (ISGs) also contain ISREs. In r...
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PMID: 19929594
PDF is available here.
Abstract
Members of the interferon regulatory factor (IRF) family are transcription factors implicated in the regulation of a variety of biological processes. Originally identified as intracellular mediators of the induction and biological activities of interferons, their central role in host resistance to p...
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PMID: 19929577
PDF is available here.
Abstract
(1) The genotype frequencies of GG, GT and TT in rs2004640 site in SLE were 0.198, 0.521 and 0.281 respectively. The difference was significant between SLE and controls (chi(2) = 8.73, P < 0.05); the genotype frequencies of GG, GA and AA at rs109542130 site in SLE were 0.318, 0.409 and 0.273 respect...
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PMID: 20137629
PDF is available here.
Abstract
We reported three unrelated families with lower lip anomalies. Two had lower lip pits, a cardinal sign of VWS, but the other had a heart-shaped mass on lower lip without pits, oral clefts, or hypodontia. This isolated anomaly has not been previously observed in VWS. We performed mutation analysis by...
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PMID: 19842205
PDF is available here.
Abstract
Diffuse large B-cell lymphoma (DLBCL) forms a heterogeneous collection of aggressive non-Hodgkin's Lymphoma in which three principle classes of neoplasia have been defined according to gene expression and immunophenotyping studies. The present investigation sought to examine the immunophenotype of p...
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PMID: 19787248
PDF is available here.
Jae Woong Sull,
Kung-Yee Liang,
Jacqueline B Hetmanski,
Tao Wu,
Margaret Daniele Fallin,
Roxann G Ingersoll,
Ji Wan Park,
Yah-Huei Wu-Chou,
Philip K Chen,
Samuel S Chong,
Felicia Cheah,
Vincent Yeow,
Beyoung Yun Park,
Sun Ha Jee,
Ethylin Wang Jabs,
Richard Redett,
Alan F Scott and
Terri H Beaty
Abstract
We also tested for gene-environmental interaction with common maternal exposures, and for gene-gene interaction using markers in TGFA and another recognized causal gene, IRF6. CL/P case-parent trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were...
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PMID: 19444471
PDF is available here.
Abstract
The filoviruses, Ebola virus (EBOV) and Marburg virus (MARV), cause frequently lethal viral hemorrhagic fever. These infections induce potent cytokine production, yet these host responses fail to prevent systemic virus replication. Consistent with this, filoviruses have been found to encode proteins...
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PMID: 19694547
PDF is available here.
Abstract
We review recent progress in elucidating the remarkable assortment of mechanisms employed by HCMV and the related beta-herpesviruses, murine cytomegaloviruses (MCMV) and rhesus cytomegaloviruses (RhCMV), for counteracting the host interferon (IFN) response. Very early after infection, cellular membr...
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PMID: 19708810
PDF is available here.
Abstract
Both genetic and environmental factors affect susceptibility, severity and probably drugs' efficacy in patients with rheumatoid arthritis (RA). After initial completion of the Human Genome Project on the 16th February 2001, significant progress has been made in identifying other than HLA genome regi...
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PMID: 19856886
PDF is available here.
Abstract
Gene expression profiling studies initially enabled diffuse large B-cell lymphoma to be divided into germinal center and activated B-cell-like subtypes, which define high- and low-risk patient groups when treated with chemotherapy. Attempts to reproduce the prognostic classification immunohistochemi...
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PMID: 19448593
PDF is available here.
Abstract
Both naturally occurring and transforming growth factor-beta-induced Tregs can be converted into Th17 cells in the presence of inflammatory cytokines. Transforming growth factor-beta upregulates the Treg transcription factor, forkhead box P3, as well as the Th17 transcription factor, retinoic acid r...
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PMID: 19448538
PDF is available here.
Abstract
We have recently identified the ETS family transcription factor PU.1 as regulating heterogeneity in Th2 populations. To define additional factors that might contribute to Th2 heterogeneity, we examined the PU.1 interacting protein IFN-regulatory factor (IRF)4. When Th2 cells are separated based on l...
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PMID: 19592658
PDF is available here.
Abstract
We report entirely new functions of FAIM that regulate B cell signaling and differentiation. FAIM acts to specifically enhance CD40 signaling for NF-kappaB activation, IRF-4 expression, and BCL-6 down-regulation in vitro, but has no effect on its own or in conjunction with LPS or anti-Ig stimulation...
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PMID: 19592656
PDF is available here.
Abstract
We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers fo...
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PMID: 19734457
PDF is available here.
Abstract
We determined the role of IL-18 in the regulation of cardiac OPN expression and the subsequent interstitial fibrosis and diastolic dysfunction. We demonstrated parallel increases in IL-18, OPN expression, and interstitial fibrosis in murine models of left ventricular pressure and volume overload. Ex...
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PMID: 19429811
PDF is available here.
Abstract
CD11b(+)Gr-1(+)-expressing cells, termed myeloid-derived suppressor cells, can mediate immunosuppression and tumor progression. However, the intrinsic molecular events that drive their protumorigenic behavior remain to be elucidated. Although CD11b(+)Gr-1(+) cells exist at low frequencies in normal...
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PMID: 19542426
PDF is available here.
Abstract
Our results indicate that IBP is expressed in more highly invasive human breast cancer cells, such as MCF-7 and MDA-MB-231, with lower expression in normal breast tissue, benign tumors and less aggressive breast cancer cells, such as SKBR3 and MDA-MB-453. Thus, expression of IBP is correlated with t...
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PMID: 19393345
PDF is available here.
Abstract
Our results indicate that IBP is expressed in more highly invasive human breast cancer cells, such as MCF-7 and MDA-MB-231, with lower expression in normal breast tissue, benign tumors and less aggressive breast cancer cells, such as SKBR3 and MDA-MB-453. Thus, expression of IBP is correlated with t...
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PMID: 19393345
PDF is available here.
Abstract
Our results indicate that IBP is expressed in more highly invasive human breast cancer cells, such as MCF-7 and MDA-MB-231, with lower expression in normal breast tissue, benign tumors and less aggressive breast cancer cells, such as SKBR3 and MDA-MB-453. Thus, expression of IBP is correlated with t...
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PMID: 19393345
PDF is available here.
Abstract
AIM: To determine the association of three SNPs, IRF6 G820A, MTHFR C677T, and MTHFR A1298C, with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in an Indian population. METHOD: A total of 323 NSCL/P patients, 116 of their mothers, 108 of their fathers, and 214 normal controls have been...
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PMID: 19419265
PDF is available here.
Abstract
We report a rare case of primary B-cell lymphoma of the leg presenting with mononeuropathy multiplex. A 79-year-old Chinese woman who was being investigated for mononeuritis multiplex had an incidental finding of indurated erythematous plaques on the breast and left leg. A skin biopsy from the nodul...
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PMID: 19495496
PDF is available here.
Abstract
We identified the common variant -1411C>T in the IGF1 upstream promoter P1, located within several overlapping transcription factor binding sites. Using transient transfection assays, we identified this site as a functional enhancer. The T allele-carrying enhancer, compared with the C allelic portio...
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PMID: 19103645
PDF is available here.
Abstract
IRF4, a member of the Interferon Regulatory Factor (IRF) family of transcription factors, is expressed in cells of the immune system, where it transduces signals from various receptors to activate or repress gene expression. IRF4 expression is a key regulator of several steps in lymphoid-, myeloid-,...
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PMID: 19383829
PDF is available here.
Renata L L Ferreira de Lima,
Sarah A Hoper,
Michella Ghassibe,
Margaret E Cooper,
Nicholas K Rorick,
Shinji Kondo,
Lori Katz,
Mary L Marazita,
John Compton,
Sherri Bale,
Ute Hehr,
Michael J Dixon,
Sandra Daack-Hirsch,
Odile Boute,
Bénédicte Bayet,
Nicole Revencu,
Christine Verellen-Dumoulin,
Miikka Vikkula,
Antônio Richieri-Costa,
Danilo Moretti-Ferreira,
Jeffrey C Murray and
Brian C Schutte
Abstract
We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 ex...
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PMID: 19282774
PDF is available here.
Abstract
Among 4 candidate SNP, rs729302, rs2004640, and rs2280714 were statistically significant; both allele C of rs729302 and allele G of rs2004640 within the promoter region of IRF5 were associated with a protective effect [random-effects (RE) OR 0.889, 95% confidence interval (CI) 0.803-0.977, p=0.015 f...
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PMID: 19228650
PDF is available here.
Abstract
We have analyzed the molecular mechanisms of synergy in TLR ligand-stimulated human monocyte-derived macrophages and dendritic cells (moDCs). Stimulation of moDCs with the TLR8 ligand together with the TLR3 or TLR4 ligand led to synergistic IL-6, IL-10, IL-12, and TNF-alpha mRNA expression and cytok...
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PMID: 19164128
PDF is available here.
Abstract
We show that depletion of maternal irf6 transcripts in X. laevis embryos leads to gastrulation defects and rupture of the superficial epithelium. These experiments reveal a conserved role for maternally-encoded Irf6 in differentiation of a simple epithelium in X. laevis and D. rerio. This epithelium...
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PMID: 19013452
PDF is available here.
Abstract
We investigated the effect of azithromycin on IL-12p40 production in macrophages after lipopolysaccharide (LPS)/interferon (IFN)-gamma stimulation. RAW264.7 macrophage cell line was pre-treated with vehicle or AZM, followed by the stimulation with LPS/IFN-gamma. We measured IL-12 production by RT-PC...
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PMID: 19893639
PDF is available here.
Abstract
(1) To investigate the activation of AKT/mTOR signaling transduction pathway in DLBCL and its association with the expression of bcl-6 and some other clinical pathologic factors. (2) To estimation of the signaling pathway function in diverse subtypes of DLBCL and its potential value in the targeted...
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PMID: 19489223
PDF is available here.
Abstract
The present findings indicate that the 820A allele is more frequent in the Chinese CPO population and may confer an increased risk for CPO in these individuals. The G820A variant may be in linkage disequilibrium with other disorder-causing mutations. CL+/-P or CPO results should be analyzed separate...
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PMID: 19115793
PDF is available here.
Abstract
Our study revealed that the rs2280714 and rs752637 SNPs were not associated with the susceptibility to BD. There was no association between the two polymorphisms of IRF5 and any extraocular clinical manifestations in BD....
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PMID: 19816589
PDF is available here.
Abstract
We measured serum IFN-alpha activity and simultaneous IFN-alpha-induced gene expression in PBMC in a large SLE cohort. The risk variant of STAT4 (T allele; rs7574865) was simultaneously associated with both lower serum IFN-alpha activity and greater IFN-alpha-induced gene expression in PBMC in SLE p...
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PMID: 19109131
PDF is available here.
Abstract
p63(+) high-intermediate and high risk DLBCL patients have a better DFS than negative cases....
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PMID: 19103865
PDF is available here.
Abstract
We demonstrate that these effects of IL-21 on Th17 differentiation are completely dependent on IFN regulatory factor 4 (IRF4). After culturing in the presence of IL-21 plus TGFbeta, IRF4-deficient (Irf4(-/-)) Th cells showed a profound intrinsic defect in IL-17 production and in the autocrine IL-21...
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PMID: 19088203
PDF is available here.