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Yfke Pasman, Daniele Merico, Azad K Kaushik
With an objective to understand natural development of bovine neonatal immunity, we analyzed 18 RNA-seq libraries from peripheral blood lymphocytes of three neonatal calves pre- (day 0) and post-colostrum (7, 14 and 28) uptake as compared to their dams. A significant global shift in neonatal transcriptome occurs within first week post-birth, in contrast to dams, with an upregulation of 717 genes. Global pathway analysis of the transcriptome revealed 110 differentially expressed immune-related genes, such as, complement, MHCII, chemokine receptors, defensins and cytokines, at birth...
September 3, 2016: Developmental and Comparative Immunology
Puya Gharahkhani, Rebecca C Fitzgerald, Thomas L Vaughan, Claire Palles, Ines Gockel, Ian Tomlinson, Matthew F Buas, Andrea May, Christian Gerges, Mario Anders, Jessica Becker, Nicole Kreuser, Tania Noder, Marino Venerito, Lothar Veits, Thomas Schmidt, Hendrik Manner, Claudia Schmidt, Timo Hess, Anne C Böhmer, Jakob R Izbicki, Arnulf H Hölscher, Hauke Lang, Dietmar Lorenz, Brigitte Schumacher, Andreas Hackelsberger, Rupert Mayershofer, Oliver Pech, Yogesh Vashist, Katja Ott, Michael Vieth, Josef Weismüller, Markus M Nöthen, Stephen Attwood, Hugh Barr, Laura Chegwidden, John de Caestecker, Rebecca Harrison, Sharon B Love, David MacDonald, Paul Moayyedi, Hans Prenen, R G Peter Watson, Prasad G Iyer, Lesley A Anderson, Leslie Bernstein, Wong-Ho Chow, Laura J Hardie, Jesper Lagergren, Geoffrey Liu, Harvey A Risch, Anna H Wu, Weimin Ye, Nigel C Bird, Nicholas J Shaheen, Marilie D Gammon, Douglas A Corley, Carlos Caldas, Susanne Moebus, Michael Knapp, Wilbert H M Peters, Horst Neuhaus, Thomas Rösch, Christian Ell, Stuart MacGregor, Paul Pharoah, David C Whiteman, Janusz Jankowski, Johannes Schumacher
BACKGROUND: Oesophageal adenocarcinoma represents one of the fastest rising cancers in high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal adenocarcinoma. However, only a few patients with Barrett's oesophagus develop adenocarcinoma, which complicates clinical management in the absence of valid predictors. Within an international consortium investigating the genetics of Barrett's oesophagus and oesophageal adenocarcinoma, we aimed to identify novel genetic risk variants for the development of Barrett's oesophagus and oesophageal adenocarcinoma...
October 2016: Lancet Oncology
Simon Rothwell, Janine A Lamb, Hector Chinoy
PURPOSE OF REVIEW: This article reviews the advances that have been made in our understanding of the genetics of the idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on polymyositis, dermatomyositis and inclusion body myositis. RECENT FINDINGS: Two large human leukocyte antigen (HLA) imputation studies have confirmed a strong association with the 8.1 ancestral haplotype in clinical subgroups of myositis and suggest multiple independent associations on this haplotype...
November 2016: Current Opinion in Rheumatology
Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities...
September 2016: Journal of Medical Genetics
Yeşim Aydın-Son, Ezgi Deniz Batu, Erkan Demirkaya, Yelda Bilginer, Özgür Kasapçopur, Erbil Ünsal, Mehmet Alikaşifoglu, Seza Özen
Genome wide association studies (GWAS) determine susceptibility profiles for complex diseases. In this study, GWAS was performed in 26 patients with oligo and rheumatoid factor negative polyarticular juvenile idiopathic artritis (JIA) and their healthy parents by Affymetrix 250K SNP arrays. Biological function and pathway enrichment analysis was done. This is the first GWAS reported for JIA families from the eastern Mediterranean population. Enrichment of FcγR-mediated phagocytosis pathway and response to various stimuli were the leading discoveries, along with the presentation of the strong interaction of JIA-associated genes with HLA cluster in the co-expression network...
July 2015: Turkish Journal of Pediatrics
Sabrina Crivellaro, Giovanna Carrà, Cristina Panuzzo, Riccardo Taulli, Angelo Guerrasio, Giuseppe Saglio, Alessandro Morotti
BACKGROUND: Chronic Myeloid Leukemia was always referred as a unique cancer due to the apparent independence from tumor suppressors' deletions/mutations in the early stages of the disease. However, it is now well documented that even genetically wild-type tumor suppressors can be involved in tumorigenesis, when functionally inactivated. In particular, tumor suppressors' functions can be impaired by subtle variations of protein levels, changes in cellular compartmentalization and post-transcriptional/post-translational modifications, such as phosphorylation, acetylation, ubiquitination and sumoylation...
2016: BMC Cancer
Nawab Ali, Nimat Ullah, Muhammad Qasim, Hazir Rahman, Shahid Niaz Khan, Abdul Sadiq, Muhammad Adnan
Microbial proteolytic enzyme is one of the most important industrial enzymes that hydrolyze proteins. The applications of proteases under harsh industrial conditions like alkalinity, salinity, and temperature make them inactive and unstable. This suggests need for search for novel microbial sources for protease production having diverse properties. For this purpose, 54 bacterial strains were isolated from different salt mines of Karak, Pakistan and were investigated for their proteolytic activity on skim milk agar plates...
July 2016: Extremophiles: Life Under Extreme Conditions
Yingbo Zhou, Xiangpei Li, Guosheng Wang, Xiaomei Li
OBJECTIVE: The purpose of this study is to evaluate the correlation between family with sequence similarity 167A-B lymphoid tyrosine kinase (FAM167A-BLK) rs2736340 polymorphism and autoimmune diseases. METHODS: Databases including PubMed, EMBASE, Chinese National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature database (CBM) and Chinese database, Wan Fang database were used in searching eligible studies from January 1, 1966 to October 2, 2015. The odds ratios (ORs) and their 95% confidence intervals (CIs) were pooled to estimate the strength of the association...
May 2016: Immunological Investigations
Yun Liu, Xia Ke, Hou-Yong Kang, Xiao-Qiang Wang, Yang Shen, Su-Ling Hong
BACKGROUND: Asthma and allergic rhinitis (AR) frequently occur as comorbid diseases of the upper airways. Single-nucleotide polymorphisms (SNPs) in the TNFSF4 and FAM167A-BLK genes have recently been shown to be associated with various immune-related disorders. OBJECTIVE: Our aim was to determine whether TNFSF4 or FAM167A-BLK polymorphisms confer genetic susceptibility to asthma and AR in a Han Chinese population. METHODS: We performed a case-control study of 290 asthmatic children and 252 healthy controls...
August 2016: Journal of Asthma: Official Journal of the Association for the Care of Asthma
G G Song, Y H Lee
OBJECTIVE: This study aimed to explore whether B‑cell lymphocyte kinase (BLK) polymorphisms are associated with susceptibility to systemic lupus erythematosus (SLE) in ethnically diverse populations. METHODS: We conducted a meta-analysis of the association between the BLK rs13277113 A/G, rs2736340 T/C, rs2248932 T/C, and rs2618476 G/A polymorphisms and SLE. RESULTS: Seventeen studies with 22,701 patients and 36,365 controls were included in the meta-analysis...
April 11, 2016: Zeitschrift Für Rheumatologie
Wenwen Yan, Haoming Song, Jinfa Jiang, Wenjun Xu, Zhu Gong, Qianglin Duan, Chuangrong Li, Yuan Xie, Lemin Wang
The current study aimed to identify differentially expressed B cell‑associated genes in peripheral blood mononuclear cells and observe the changes in B cell activation at different stages of coronary artery disease. Groups of patients with acute myocardial infarction (AMI) and stable angina (SA), as well as healthy volunteers, were recruited into the study (n=20 per group). Whole human genome microarray analysis was performed to examine the expression of B cell‑associated genes among these three groups...
May 2016: Molecular Medicine Reports
L G Rider, K Nistala
The aim of this review was to summarize recent advances in the understanding of the clinical and autoantibody phenotypes, their associated outcomes and the pathogenesis of the juvenile idiopathic inflammatory myopathies (JIIMs). The major clinical and autoantibody phenotypes in children have many features similar to those in adults, and each has distinct demographic and clinical features and associated outcomes. The most common myositis autoantibodies in JIIM patients are anti-p155/140, anti-MJ and anti-MDA5...
July 2016: Journal of Internal Medicine
Otsanda Ruiz-Larrañaga, Paola Migliorini, Maria Uribarri, László Czirják, Maria C Alcaro, Jokin Del Amo, Mikel Iriondo, Carmen Manzano, Sergio Escorza-Treviño, Andone Estonba
Epidemiological studies suggest a strong contribution of genetic factors in the pathogenesis of systemic lupus erythematosus (SLE). In the last decades, many risk loci have been identified in several genetic association studies following both candidate gene and genome-wide approaches. The present work was conducted by GAPAID (Genes And Proteins for AutoImmunity Diagnostics) consortium with a dual aim: to replicate the association of several previously reported SLE susceptibility loci in an independent European sample and to explore their relation with some disease subphenotypes...
May 2016: Clinical Rheumatology
Otsanda Ruiz-Larrañaga, Maria Uribarri, Maria C Alcaro, Sergio Escorza-Treviño, Jokin Del Amo, Mikel Iriondo, Carmen Manzano, Paola Migliorini, Veronika Lóránd, Andone Estonba
OBJECTIVES: To replicate the association of rheumatoid arthritis (RA) susceptibility loci in an independent European sample and to assess their specificity with anti-citrullinated protein antibodies (ACPA) status. METHODS: A selection of 64 SNP previously associated with RA have been typed in a cohort of 267 RA patients (169 ACPA-positive and 98 ACPA-negative) and 152 controls from the Rheumatology Units of the University Hospital of Pisa (Italy) and the University of Pécs Medical Center (Hungary)...
March 2016: Clinical and Experimental Rheumatology
Jong-Eun Kim, Jae Hwan Kim, Younghyun Lee, Hee Yang, Yong-Seok Heo, Ann M Bode, Ki Won Lee, Zigang Dong
Bakuchiol is a meroterpene present in the medicinal plant Psoralea corylifolia, which has been traditionally used in China, India, Japan and Korea for the treatment of premature ejaculation, knee pain, alopecia spermatorrhea, enuresis, backache, pollakiuria, vitiligo, callus, and psoriasis. Here, we report the chemopreventive properties of bakuchiol, which acts by inhibiting epidermal growth factor (EGF)-induced neoplastic cell transformation. Bakuchiol also decreased viability and inhibited anchorage-independent growth of A431 human epithelial carcinoma cells...
March 22, 2016: Oncotarget
Sebastien Viatte, Jonathan Massey, John Bowes, Kate Duffus, Stephen Eyre, Anne Barton, Jane Worthington
OBJECTIVE: Genetic polymorphisms within the HLA region explain only a modest proportion of anti-cyclic citrullinated peptide (anti-CCP)-negative rheumatoid arthritis (RA) heritability. However, few non-HLA markers have been identified so far. This study was undertaken to replicate the associations of anti-CCP-negative RA with non-HLA genetic polymorphisms demonstrated in a previous study. METHODS: The Rheumatoid Arthritis Consortium International densely genotyped 186 autoimmune-related regions in 3,339 anti-CCP-negative RA patients and 15,870 controls across 6 different populations using the Illumina ImmunoChip array...
July 2016: Arthritis & Rheumatology
A Díaz-Barreiro, M Bernal-Quirós, I Georg, C Marañón, M E Alarcón-Riquelme, C Castillejo-López
The B-lymphocyte kinase (BLK) gene is associated genetically with several human autoimmune diseases including systemic lupus erythematosus. We recently described that the genetic risk is given by two haplotypes: one covering several strongly linked single-nucleotide polymorphisms within the promoter of the gene that correlated with low transcript levels, and a second haplotype that includes a rare nonsynonymous variant (Ala71Thr). Here we show that this variant, located within the BLK SH3 domain, is a major determinant of protein levels...
March 2016: Genes and Immunity
Christopher J Lessard, Satria Sajuthi, Jian Zhao, Kwangwoo Kim, John A Ice, He Li, Hannah Ainsworth, Astrid Rasmussen, Jennifer A Kelly, Miranda Marion, So-Young Bang, Young Bin Joo, Jeongim Choi, Hye-Soon Lee, Young Mo Kang, Chang-Hee Suh, Won Tae Chung, Soo-Kon Lee, Jung-Yoon Choe, Seung Cheol Shim, Ji Hee Oh, Young Jin Kim, Bok-Ghee Han, Nan Shen, Hwee Siew Howe, Edward K Wakeland, Quan-Zhen Li, Yeong Wook Song, Patrick M Gaffney, Marta E Alarcón-Riquelme, Lindsey A Criswell, Chaim O Jacob, Robert P Kimberly, Timothy J Vyse, John B Harley, Kathy L Sivils, Sang-Cheol Bae, Carl D Langefeld, Betty P Tsao
OBJECTIVE: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder whose etiology is incompletely understood, but likely involves environmental triggers in genetically susceptible individuals. Using an unbiased genome-wide association (GWA) scan and replication analysis, we sought to identify the genetic loci associated with SLE in a Korean population. METHODS: A total of 1,174 SLE cases and 4,246 population controls from Korea were genotyped and analyzed with a GWA scan to identify single-nucleotide polymorphisms (SNPs) significantly associated with SLE, after strict quality control measures were applied...
May 2016: Arthritis & Rheumatology
Harry H Qin, Céline Filippi, Song Sun, Sharon Lehec, Anil Dhawan, Robin D Hughes
INTRODUCTION: Mesenchymal stem/stromal cells (MSCs) improve the metabolic function of co-cultured hepatocytes. The present study aimed to further enhance the trophic effects of co-culture with hepatocytes using hypoxic preconditioning (HPc) of the MSCs and also to investigate the underlying molecular mechanisms involved. METHODS: Human adipose tissue-derived MSCs were subjected to hypoxia (2 % O2; HPc) or normoxia (20 % O2) for 24 h and then co-cultured with isolated human hepatocytes...
2015: Stem Cell Research & Therapy
Peter K Gregersen, Gila Klein, Mary Keogh, Marlena Kern, Margaret DeFranco, Kim R Simpfendorfer, Sun Jung Kim, Betty Diamond
We describe the development of the Genotype and Phenotype (GaP) Registry, a living biobank of normal volunteers who are genotyped for genetic markers related to human disease. Participants in the GaP can be recalled for hypothesis driven study of disease associated genetic variants. The GaP has facilitated functional studies of several autoimmune disease associated loci including Csk, Blk, PDRM1 (Blimp-1) and PTPN22. It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease...
December 2015: Immunologic Research
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