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https://www.readbyqxmd.com/read/28716935/severe-viral-respiratory-infections-in-children-with-ifih1-loss-of-function-mutations
#1
Samira Asgari, Luregn J Schlapbach, Stéphanie Anchisi, Christian Hammer, Istvan Bartha, Thomas Junier, Geneviève Mottet-Osman, Klara M Posfay-Barbe, David Longchamp, Martin Stocker, Samuel Cordey, Laurent Kaiser, Thomas Riedel, Tony Kenna, Deborah Long, Andreas Schibler, Amalio Telenti, Caroline Tapparel, Paul J McLaren, Dominique Garcin, Jacques Fellay
Viral respiratory infections are usually mild and self-limiting; still they exceptionally result in life-threatening infections in previously healthy children. To investigate a potential genetic cause, we recruited 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Using exome and transcriptome sequencing, we identified and characterized three rare loss-of-function variants in IFIH1, which encodes an RIG-I-like receptor involved in the sensing of viral RNA...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28632717/polymorphisms-in-ifih1-the-good-and-the-bad
#2
Erika Della Mina, Mathieu P Rodero, Yanick J Crow
No abstract text is available yet for this article.
June 20, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28611294/microarray-based-detection-and-expression-analysis-of-new-genes-associated-with-drug-resistance-in-ovarian-cancer-cell-lines
#3
Radosław Januchowski, Karolina Sterzyńska, Piotr Zawierucha, Marcin Ruciński, Monika Świerczewska, Małgorzata Partyka, Katarzyna Bednarek-Rajewska, Maciej Brązert, Michał Nowicki, Maciej Zabel, Andrzej Klejewski
PURPOSE: The present study is to discover a new genes associated with drug resistance development in ovarian cancer. METHODS: We used microarray analysis to determine alterations in the level of expression of genes in cisplatin- (CisPt), doxorubicin- (Dox), topotecan- (Top), and paclitaxel- (Pac) resistant variants of W1 and A2780 ovarian cancer cell lines. Immunohistochemistry assay was used to determine protein expression in ovarian cancer patients. RESULTS: We observed alterations in the expression of 22 genes that were common to all three cell lines that were resistant to the same cytostatic drug...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28606988/recurrent-rhinovirus-infections-in-a-child-with-inherited-mda5-deficiency
#4
Ian T Lamborn, Huie Jing, Yu Zhang, Scott B Drutman, Jordan K Abbott, Shirin Munir, Sangeeta Bade, Heardley M Murdock, Celia P Santos, Linda G Brock, Evan Masutani, Emmanuel Y Fordjour, Joshua J McElwee, Jason D Hughes, Dave P Nichols, Aziz Belkadi, Andrew J Oler, Corinne S Happel, Helen F Matthews, Laurent Abel, Peter L Collins, Kanta Subbarao, Erwin W Gelfand, Michael J Ciancanelli, Jean-Laurent Casanova, Helen C Su
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not recognize the synthetic MDA5 agonist/(ds)RNA mimic polyinosinic-polycytidylic acid. When overexpressed, mutant MDA5 failed to drive luciferase activity from the IFNB1 promoter or promoters containing ISRE or NF-κB sequence motifs...
July 3, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28605413/acute-bovine-viral-diarrhoea-virus-infection-inhibits-expression-of-interferon-tau-stimulated-genes-in-bovine-endometrium
#5
Zhangrui Cheng, Latta Chauhan, Amy Teresa Barry, Ayimuguli Abudureyimu, Chike F Oguejiofor, Xing Chen, D Claire Wathes
Bovine viral diarrhoea virus (BVDV) can evade host detection by down-regulation of interferon signalling pathways. Infection of cows with non-cytopathic (ncp) BVDV can cause early embryonic mortality. Upregulation of type I interferon stimulated genes (ISGs) by blastocyst-secreted interferon tau (IFNT) is a crucial component of the maternal recognition of pregnancy (MRP) in ruminants. This study investigated the potential of acute BVDV infection to disrupt MRP by modulating endometrial ISG expression. Endometrial cells from 10 BVDV-free cows were cultured and treated with 0 or 100 ng/ml IFNT for 24 h in the absence or presence of ncpBVDV infection to yield 4 treatment groups: CONT, ncpBVDV, IFNT or ncpBVDV+IFNT...
June 12, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28605144/musculoskeletal-disease-in-mda5-related-type-i-interferonopathy-a-mendelian-mimic-of-jaccoud-s-arthropathy
#6
Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi, Isabelle Melki, Flávio Falcäo L Souza, Andreas Tzschach, Marcello H Nogueira-Barbosa, Virgínia Ferriani, Paulo Louzada-Junior, Wilson Marques Junior, Charles M Lourenço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Sun Hur, Gillian I Rice, Yanick J Crow
Objectives To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet including camptodactyly, subluxation and tendon rupture reminiscent of Jaccoud's arthropathy. Methods We ascertained two families segregating an autosomal dominant phenotype encompassing musculoskeletal disease and variable additional features including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma and basal ganglia calcification. We measured the expression of interferon-stimulated genes in peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA sensor MDA5...
June 12, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28553952/the-a946t-variant-of-the-rna-sensor-ifih1-mediates-an-interferon-program-that-limits-viral-infection-but-increases-the-risk-for-autoimmunity
#7
Jacquelyn A Gorman, Christian Hundhausen, John S Errett, Amy E Stone, Eric J Allenspach, Yan Ge, Tanvi Arkatkar, Courtnee Clough, Xuezhi Dai, Socheath Khim, Kathleen Pestal, Denny Liggitt, Karen Cerosaletti, Daniel B Stetson, Richard G James, Mohamed Oukka, Patrick Concannon, Michael Gale, Jane H Buckner, David J Rawlings
The single-nucleotide polymorphism rs1990760 in the gene encoding the cytosolic viral sensor IFIH1 results in an amino-acid change (A946T; IFIH1(T946)) that is associated with multiple autoimmune diseases. The effect of this polymorphism on both viral sensing and autoimmune pathogenesis remains poorly understood. Here we found that human peripheral blood mononuclear cells (PBMCs) and cell lines expressing the risk variant IFIH1(T946) exhibited heightened basal and ligand-triggered production of type I interferons...
July 2017: Nature Immunology
https://www.readbyqxmd.com/read/28501801/a-rare-coding-allele-in-ifih1-is-protective-for-psoriatic-arthritis
#8
Ashley Budu-Aggrey, John Bowes, Philip E Stuart, Matthew Zawistowski, Lam C Tsoi, Rajan Nair, Deepak Rohit Jadon, Neil McHugh, Eleanor Korendowych, James T Elder, Anne Barton, Soumya Raychaudhuri
OBJECTIVES: Psoriatic arthritis (PsA) is an inflammatory arthritis associated with psoriasis. While many common risk alleles have been reported for association with PsA as well as psoriasis, few rare coding alleles have yet been identified. METHODS: To identify rare coding variation associated with PsA risk or protection, we genotyped 41 267 variants with the exome chip and investigated association within an initial cohort of 1980 PsA cases and 5913 controls. Genotype data for an independent cohort of 2234 PsA cases and 5708 controls was also made available, allowing for a meta-analysis to be performed with the discovery dataset...
May 13, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28475458/mda5-associated-neuroinflammation-and-the-singleton-merten-syndrome-two-faces-of-the-same-type-i-interferonopathy-spectrum
#9
Insa Buers, Gillian I Rice, Yanick J Crow, Frank Rutsch
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1...
May 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28427244/whole-genome-expression-analyses-of-type-2-diabetes-in-human-skin-reveal-altered-immune-function-and-burden-of-infection
#10
Chun Wu, Xiaopan Chen, Jing Shu, Chun-Ting Lee
Skin disorders are among most common complications associated with type 2 diabetes mellitus (T2DM). Although T2DM patients are known to have increased risk of infections and other T2DM-related skin disorders, their molecular mechanisms are largely unknown. This study aims to identify dysregulated genes and gene networks that are associated with T2DM in human skin. We compared the expression profiles of 56,318 transcribed genes on 74 T2DM cases and 148 gender- age-, and race-matched non-diabetes controls from the Genotype-Tissue Expression (GTEx) database...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28373423/new-and-old-genes-associated-with-topotecan-resistance-development-in-ovarian-cancer-cell-lines
#11
Andrzej Klejewski, Monika Świerczewska, Katarzyna Zaorska, Maciej Brązert, Michał Nowicki, Maciej Zabel, Radosław Januchowski
BACKGROUND: Low effectiveness of chemotherapy in ovarian cancer results from development of drug resistance. Topotecan is a drug used as second-line chemotherapy for this cancer type. We analyzed development of topotecan resistance in ovarian cancer cell lines. MATERIALS AND METHODS: A chemosensitivity assay, MTT test, was performed to assess drug resistance. Quantitative polymerase chain reaction (Q-PCR) assays were performed to determine ABCB1, ABCG2, ALDH1A1, IFIH1, SAMD4 and EPHA3 gene expression...
April 2017: Anticancer Research
https://www.readbyqxmd.com/read/28319323/further-evidence-for-specific-ifih1-mutation-as-a-cause-of-singleton-merten-syndrome-with-phenotypic-heterogeneity
#12
Maria Pettersson, Birgitta Bergendal, Johanna Norderyd, Daniel Nilsson, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand
Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28246883/novel-linkage-disequilibrium-clustering-algorithm-identifies-new-lupus-genes-on-meta-analysis-of-gwas-datasets
#13
Mohammad Saeed
Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE...
May 2017: Immunogenetics
https://www.readbyqxmd.com/read/28243843/dynamic-gene-expression-analysis-in-a-h1n1-influenza-virus-mouse-pneumonia-model
#14
Yanyan Bao, Yingjie Gao, Yujing Shi, Xiaolan Cui
H1N1, a major pathogenic subtype of influenza A virus, causes a respiratory infection in humans and livestock that can range from a mild infection to more severe pneumonia associated with acute respiratory distress syndrome. Understanding the dynamic changes in the genome and the related functional changes induced by H1N1 influenza virus infection is essential to elucidating the pathogenesis of this virus and thereby determining strategies to prevent future outbreaks. In this study, we filtered the significantly expressed genes in mouse pneumonia using mRNA microarray analysis...
June 2017: Virus Genes
https://www.readbyqxmd.com/read/28114323/identification-of-a-putative-quantitative-trait-gene-for-resistance-to-obesity-in-mice-using-transcriptome-analysis-and-causal-inference-tests
#15
Akira Ishikawa
It is still challenging to identify causal genes governing obesity. Pbwg1.5, a quantitative trait locus (QTL) for resistance to obesity, was previously discovered from wild Mus musculus castaneus mice and was fine-mapped to a 2.1-Mb genomic region of mouse chromosome 2, where no known gene with an effect on white adipose tissue (WAT) has been reported. The aim of this study was to identify a strong candidate gene for Pbwg1.5 by an integration approach of transcriptome analysis (RNA-sequencing followed by real-time PCR analysis) and the causal inference test (CIT), a statistical method to infer causal relationships between diplotypes, gene expression and trait values...
2017: PloS One
https://www.readbyqxmd.com/read/28049494/adjuvant-effects-of-a-sequence-engineered-mrna-vaccine-translational-profiling-demonstrates-similar-human-and-murine-innate-response
#16
Darin K Edwards, Edith Jasny, Heesik Yoon, Nigel Horscroft, Brian Schanen, Tanya Geter, Mariola Fotin-Mleczek, Benjamin Petsch, Vaughan Wittman
BACKGROUND: Prophylactic and therapeutic vaccines often depend upon a strong activation of the innate immune system to drive a potent adaptive immune response, often mediated by a strong adjuvant. For a number of adjuvants immunological readouts may not be consistent across species. METHODS: In this study, we evaluated the innate immunostimulatory potential of mRNA vaccines in both humans and mice, using a novel mRNA-based vaccine encoding influenza A hemagglutinin of the pandemic strain H1N1pdm09 as a model...
January 3, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28000722/an-ifih1-gene-polymorphism-associated-with-risk-for-autoimmunity-regulates-canonical-antiviral-defence-pathways-in-coxsackievirus-infected-human-pancreatic-islets
#17
Erna Domsgen, Katharina Lind, Lingjia Kong, Michael H Hühn, Omid Rasool, Frank van Kuppeveld, Olle Korsgren, Riitta Lahesmaa, Malin Flodström-Tullberg
The IFIH1 gene encodes the pattern recognition receptor MDA5. A common polymorphism in IFIH1 (rs1990760, A946T) confers increased risk for autoimmune disease, including type 1-diabetes (T1D). Coxsackievirus infections are linked to T1D and cause beta-cell damage in vitro. Here we demonstrate that the rs1990760 polymorphism regulates the interferon (IFN) signature expressed by human pancreatic islets following Coxsackievirus infection. A strong IFN signature was associated with high expression of IFNλ1 and IFNλ2, linking rs1990760 to the expression of type III IFNs...
December 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27813554/association-of-interferon-induced-helicase-c-domain-ifih1-gene-polymorphisms-with-systemic-lupus-erythematosus-and-a-relevant-updated-meta-analysis
#18
J De Azevedo Silva, S C Lima, C Addobbati, R Moura, L A Cavalcanti Brandão, J A Trés Pancoto, E A Donadi, S Crovella, P Sandrin-Garcia
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder presenting heterogeneous clinical manifestations. A number of genes involved in SLE susceptibility are related to the type I interferon (IFN) pathway. IFN mediates innate immune responses and its increased levels contribute to the breakdown of peripheral tolerance. Interferon-induced helicase C domain 1 (IFIH1) activates and modulates IFN responses through its caspase recruitment domain. In this study, we analyzed four IFIH1 single nucleotide polymorphisms (SNPs): rs6432714, rs10930046, rs1990760, and rs3747517, in 337 patients with SLE and 373 healthy individuals from southeast and northeast Brazil...
October 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27810495/psoriasis-risk-snps-and-their-association-with-hiv-1-control
#19
Joanne Nititham, Rashmi Gupta, Xue Zeng, Wendy Hartogensis, Douglas F Nixon, Steven G Deeks, Frederick M Hecht, Wilson Liao
Human evolution has resulted in selection for genetic polymorphisms beneficial in the defense against pathogens. However, such polymorphisms may have the potential to heighten the risk of autoimmune disease. Here, we investigated whether psoriasis-associated single nucleotide polymorphisms influence host control of HIV-1 infection. We studied psoriasis and viral immune response variants in three HIV-positive cohorts: (1) HIV-1 controllers and non-controllers in the Study of the Consequences of the Protease Inhibitor Era (SCOPE) cohort (n=366), (2) Individuals with primary HIV infection in the Options cohort (n=675), and (3) HIV-positive injection drug users from the Urban Health Study (UHS) (n=987)...
February 2017: Human Immunology
https://www.readbyqxmd.com/read/27723758/common-variants-at-pvt1-atg13-ambra1-ahi1-and-clec16a-are-associated-with-selective-iga-deficiency
#20
Paola G Bronson, Diana Chang, Tushar Bhangale, Michael F Seldin, Ward Ortmann, Ricardo C Ferreira, Elena Urcelay, Luis Fernández Pereira, Javier Martin, Alessandro Plebani, Vassilios Lougaris, Vanda Friman, Tomáš Freiberger, Jiri Litzman, Vojtech Thon, Qiang Pan-Hammarström, Lennart Hammarström, Robert R Graham, Timothy W Behrens
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells...
November 2016: Nature Genetics
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