Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus.

abstract：:Nitric oxide (NO) is an endogenous vasodilator involved in inflammatory and autoimmune response, and in the pathophysiology of diabetic vascular disease. Endothelium-derived NO is formed from L-arginine by endothelial NO synthase (eNOS), and earlier studies have provided evidence for altered NO metabolism and impaired...

journal_title：International journal of immunogenetics

authors： Mamoulakis D,Bitsori M,Galanakis E,Vazgiourakis V,Panierakis C,Goulielmos GN

更新日期：2009-06-01 00:00:00

abstract：:Immunological studies have supported the idea that innate immunity is critical for the control of Mycobacterium tuberculosis (Mtb) infection in humans. Despite the overwhelming evidence showing the critical role of Toll-like receptors (TLRs) in the in vitro recognition of Mtb, the in vivo significance of individual TL...

journal_title：International journal of immunogenetics

authors： Sánchez D,Lefebvre C,Rioux J,García LF,Barrera LF

更新日期：2012-06-01 00:00:00

abstract：:The T-cell immunoglobulin and mucin domain 3 (TIM-3) has been shown to be associated with susceptibility to rheumatoid arthritis (RA). In this study, we investigated the association of four single-nucleotide polymorphisms (SNPs) of the TIM-3 gene with RA susceptibility in Chinese Hui and Han groups. Using restriction ...

journal_title：International journal of immunogenetics

authors： Xu J,Yang Y,Liu X,Wang Y

更新日期：2011-12-01 00:00:00

abstract：:Natural killer (NK) cells have killer cell immunoglobulin-like receptors (KIR) that recognize and interact with HLA class I antigen. The KIRs are a multigene family and its members are often highly polymorphic. Evidence is emerging from disease-association studies that KIR receptors can play beneficial roles in viral ...

journal_title：International journal of immunogenetics

authors： Gardiner CM

更新日期：2008-02-01 00:00:00

abstract：:Autoimmune diabetes [type 1 diabetes mellitus (T1DM), latent autoimmune diabetes in adults (LADA) and part of malnutrition-related diabetes] has been shown to have genetic predisposition. Studies in IDDM 5 have lead to the discovery of a novel polymorphism 163 A-->G, of SUMO4 (small ubiquitin-related modifier) gene, a...

journal_title：International journal of immunogenetics

authors： Sedimbi SK,Kanungo A,Shastry A,Park Y,Sanjeevi CB

更新日期：2007-04-01 00:00:00

abstract：:In this study, we aimed to find new genes associated with rheumatoid arthritis (RA) so that more comprehensive genes would be used for monitoring and/or diagnosing patients. Illumina digital gene expression profiling was applied in two sample types - peripheral blood mononuclear cells (PBMCs) and synovial cells to com...

journal_title：International journal of immunogenetics

authors： Wang H,Guo J,Jiang J,Wu W,Chang X,Zhou H,Li Z,Zhao J

更新日期：2017-06-01 00:00:00

abstract：:HLA donor-specific antibodies developed de novo after transplant remain a major cause of chronic allograft dysfunction. Our study main purpose was to determine whether HLA MM, assessed traditionally and by HLA total and AbVer eplet mismatch load (EptMM and EpvMM) assessed with HLAMatchMaker, had impact on dnDSA develo...

journal_title：International journal of immunogenetics

authors： Tafulo S,Malheiro J,Santos S,Dias L,Almeida M,Martins S,Pedroso S,Mendes C,Lobato L,Castro-Henriques A

更新日期：2021-02-01 00:00:00

abstract：:Brucellosis is a worldwide zoonosis. Infection with Brucella species results in the activation of cell-mediated immune response. The interaction between Th1and Th2 cytokines determines the outcome of disease. Production of each cytokine is in turn affected by genetic factors. In this study, we investigated the possibl...

journal_title：International journal of immunogenetics

authors： Davoudi S,Amirzargar AA,Hajiabdolbaghi M,Rasoolinejad M,Soodbakhsh A,Jafari S,Piri H,Maleknejad P,Bagherian H,Madadi N,Nikbin B

更新日期：2006-10-01 00:00:00

abstract：:Illumina first introduced their TruSight human leucocyte antigen (HLA) next-generation sequencing (NGS) typing kit in 2015 and subsequently followed up with a new version in 2016. Here we report on our experience comparing the two versions of the Illumina HLA NGS kits. ...

journal_title：International journal of immunogenetics

authors： Profaizer T,Lázár-Molnár E,Pole A,Delgado JC,Kumánovics A

更新日期：2017-08-01 00:00:00

abstract：:Cytotoxic T lymphocytes (CTLs) play an essential role in the control of viral replication during human immunodeficiency virus (HIV) infection. However, the efficacy of the CTL response varies between individuals. We tested the hypothesis that genetic polymorphisms in the lytic effector molecule perforin could influenc...

journal_title：International journal of immunogenetics

authors： McIlroy D,Meyer L,Dudoit Y,Samri A,Delfraissy JF,Autran B,Debré P,Theodorou I

更新日期：2006-04-01 00:00:00

abstract：:The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in inaccurate genotyping in most published papers. The purpose of the study was to develop an accurate genotyping assay able to discriminate this polymorphism. ...

journal_title：International journal of immunogenetics

authors： Bonatti F,Adorni A,Percesepe A,Martorana D

更新日期：2018-02-01 00:00:00

abstract：:The aim of this study was to investigate the genetic association between recurrent aphthous stomatitis (RAS) and human leucocyte antigen (HLA) class I and II alleles and HLA haplotypes. Families selected had at least one child suffering from recurrent aphthous stomatitis in addition to one or both of the parents. HLA-...

journal_title：International journal of immunogenetics

authors： Albanidou-Farmaki E,Deligiannidis A,Markopoulos AK,Katsares V,Farmakis K,Parapanissiou E

更新日期：2008-12-01 00:00:00

abstract：:We have used molecular methods to determine the frequencies of human leukocyte antigen (HLA)-A, -B and -C alleles in normal, healthy, unrelated individuals from North India using polymerase chain reaction and hybridization with sequence-specific oligonucleotide probes as there is no comprehensive report showing molecu...

journal_title：International journal of immunogenetics

authors： Rani R,Marcos C,Lazaro AM,Zhang Y,Stastny P

更新日期：2007-06-01 00:00:00

abstract：:Type I interferons (IFN) are important mediators of the host defence against viruses through binding to the cell surface receptors, among which the binding to type I IFN receptor 2 (IFNAR2) is the very first step initiating a complex signal transduction cascade. By using RT-PCR and 5' RACE approaches, we obtained porc...

journal_title：International journal of immunogenetics

authors： Xing F,Li Y,Liang S,Liu D,Jiang C,Zhang Y,Kang L,Jiang Y

更新日期：2011-08-01 00:00:00

abstract：:The single nucleotide polymorphism (SNP) G949T in the mannose-binding lectin ( MBL ) 1 gene has been associated with low MBL-A concentration in serum and detected at different frequencies in various European pig populations. However, the origin of this SNP is not known. Part of the MBL1 gene was sequenced in 12 wild b...

journal_title：International journal of immunogenetics

authors： Bergman IM,Sandholm K,Ekdahl KN,Okumura N,Uenishi H,Guldbrandtsen B,Essler SE,Knoll A,Heegaard PM,Edfors I,Juul-Madsen HR

更新日期：2013-04-01 00:00:00

abstract：:A new allelic variant in MICB*005 lineage, MICB*005:09, has been identified in a male Uyghur individual recruited from Xinjiang Uyghur Autonomous Region, China by PCR-sequence-based typing (Sanger sequencing) and confirmed by cloning and sequencing. Aligned with MICB*005:03, this new allelic variant shows a synonymous...

journal_title：International journal of immunogenetics

authors： Tursun M,Wang Z,Guo W,Hasim A,Tian W

更新日期：2019-02-01 00:00:00

abstract：:Haematopoietic stem cell transplantation (HSCT), using unrelated donors (UD), is now a common modality of treatment for individuals with a variety of different diseases. HLA matching has been shown to have a significant impact on patient outcome. This study includes 423 unrelated UK patient/donor pairs. The patients a...

journal_title：International journal of immunogenetics

authors： Shaw BE

更新日期：2008-08-01 00:00:00

abstract：:Genome-wide association studies identified many loci associated with the two forms of inflammatory bowel disease (IBD), Crohn's disease (CD) and ulcerative colitis (UC). Components of the interleukin-23 signalling pathway, such as IL23R, JAK2 and STAT3, have been implicated in both diseases. In addition, emerging evid...

journal_title：International journal of immunogenetics

authors： Polgar N,Csongei V,Szabo M,Zambo V,Melegh BI,Sumegi K,Nagy G,Tulassay Z,Melegh B

更新日期：2012-06-01 00:00:00

abstract：:The genetic and immunophenotypic characteristics of a 3-year-old patient with Blau syndrome (BS), an early onset sarcoidosis caused by mutations in NOD2, were investigated. Molecular analysis of NOD2 gene was achieved by PCR and direct nucleotide sequencing. Immunophenotyping included cytometric analysis of memory-eff...

journal_title：International journal of immunogenetics

authors： Jimenez-Martinez MC,Cruz F,Groman-Lupa S,Zenteno JC

更新日期：2011-06-01 00:00:00

abstract：:C-reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none ...

journal_title：International journal of immunogenetics

authors： Zakharyan R,Chavushyan A,Khoyetsyan A,Stahelova A,Arakelyan A,Boyajyan A,Mrazek F,Petrek M

更新日期：2010-10-01 00:00:00

abstract：:It is now over forty years since the first associations between particular HLA antigens and disease susceptibility were described, and the identification of large numbers HLA-associated diseases parallels our increased understanding of the genetic complexity of the HLA system and its extensive polymorphism. However, s...

journal_title：International journal of immunogenetics

authors： Howell WM

更新日期：2014-02-01 00:00:00

abstract：:Single nucleotide polymorphisms within the promoter or other regulatory sequences of cytokine genes were evaluated and compared between an Iranian population and populations of different ethnic/geographical background. In 40 healthy Iranian subjects, cytokine typing was performed by polymerase chain reaction-sequence-...

journal_title：International journal of immunogenetics

authors： Bagheri M,Abdi-Rad I,Omrani D,Khalkhali HR

更新日期：2006-06-01 00:00:00

abstract：:The objective was to analyze the possible involvement of tumour necrosis factor-alpha (TNF-α) -308 G/A promoter polymorphism in the susceptibility and/or the disease profile of rheumatoid arthritis (RA) in Egyptian patients. TNF-α-308 G/promoter polymorphism detection by amplification refractory mutation system (ARMS)...

journal_title：International journal of immunogenetics

authors： Mosaad YM,Abdelsalam A,El-Bassiony SR

更新日期：2011-10-01 00:00:00

abstract：:Haematopoietic stem cell transplantation (HSCT) remains the only cure for most haematological malignancies, however, the mortality rate remains high. Complications after HSCT include relapse, graft versus host disease (GvHD), graft rejection and infection. Over the last few years several groups, have demonstrated that...

journal_title：International journal of immunogenetics

authors： Norden J,Pearce KF,Irving JAE,Collin MP,Wang XN,Wolff D,Kolb HJ,Socie G,Kuzmina Z,Greinix H,Holler E,Rocha V,Gluckman E,Hromadnikova I,Dickinson AM

更新日期：2018-07-25 00:00:00

abstract：:Mannose-binding lectin (MBL) is a protein able to bind to carbohydrate patterns on pathogen membranes; upon MBL binding, its' associated serine protease MBL-associated serine protease type 2 (MASP2) is autoactivated, promoting the activation of complement via the lectin pathway. For both MBL2 and MASP2 genes, the freq...

journal_title：International journal of immunogenetics

authors： Ferraroni NR,Segat L,Guimarães RL,Brandão LA,Crovella S,Constantino-Silva RN,Loja C,da Silva Duarte AJ,Grumach AS

更新日期：2012-02-01 00:00:00

abstract：:Killer cells immunoglobulin-like receptors (KIRs) are a family of inhibitory and activating receptors expressed mainly by natural killer (NK) cells and few subsets of T lymphocytes. KIRs regulate NK cells' activity through interactions with specific HLA class I molecules and other yet unknown ligands presented on targ...

journal_title：International journal of immunogenetics

authors： Pavlova Y,Kolesar L,Striz I,Jabor A,Slavcev A

更新日期：2008-02-01 00:00:00

abstract：:To identify HLA-B*15 subtypes distribution in Han population in Beijing, People's Republic of China, 826 unrelated healthy individuals were typed using the polymerase chain reaction-sequence-based typing method. Within the 246 HLA-B*15 positive individuals, 29 HLA-B*15 alleles were identified, the most predominant of ...

journal_title：International journal of immunogenetics

authors： Yang G,Deng YJ,Qin H,Zhu BF,Chen F,Shen CM,Sun ZM,Chen LP,Wu J,Mu HF,Lucas R

更新日期：2010-06-01 00:00:00

abstract：:The African buffalo (Syncerus caffer) has been implicated as the reservoir of several bovine infectious agents. However, there is insufficient information on the protective immune responses in the African buffalo, particularly in infected animals. In this study, we analysed Th1 cytokines IL-2 and IFN-γ, and Th2 cytoki...

journal_title：International journal of immunogenetics

authors： Suzuki S,Konnai S,Okagawa T,Githaka NW,Kariuki E,Gakuya F,Kanduma E,Shirai T,Ikebuchi R,Ikenaka Y,Ishizuka M,Murata S,Ohashi K

更新日期：2012-04-01 00:00:00

abstract：:Tumour growth in cutaneous malignant melanoma (CMM) is mediated by cell adhesion molecules, including intercellular adhesion molecule-1 (ICAM-1). ICAM-1 expression is associated with increasing Breslow thickness of vertical growth-phase tumours and, in patients with stage 1 disease, may be associated with disease free...

journal_title：International journal of immunogenetics

authors： Howell WM,Rose-Zerilli MJ,Theaker JM,Bateman AC

更新日期：2005-12-01 00:00:00

abstract：:The killer-cell immunoglobulin-like receptors (KIR) form a diverse family of receptors that control the functions of natural killer cells. Sequencing of KIR from primates has revealed the unexpected extent to which this gene family has diversified mostly likely in response to pathogens and to pathogen-mediated selecti...

journal_title：International journal of immunogenetics

authors： Martinez-Borra J,Khakoo SI

更新日期：2008-04-01 00:00:00