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https://www.readbyqxmd.com/read/29143667/validation-of-whole-blood-transcriptome-signature-during-microdose-recombinant-human-erythropoietin-rhuepo-administration
#1
Guan Wang, Jérôme Durussel, Jonathan Shurlock, Martin Mooses, Noriyuki Fuku, Georgie Bruinvels, Charles Pedlar, Richard Burden, Andrew Murray, Brendan Yee, Anne Keenan, John D McClure, Pierre-Edouard Sottas, Yannis P Pitsiladis
BACKGROUND: Recombinant human erythropoietin (rHuEpo) can improve human performance and is therefore frequently abused by athletes. As a result, the World Anti-Doping Agency (WADA) introduced the Athlete Biological Passport (ABP) as an indirect method to detect blood doping. Despite this progress, challenges remain to detect blood manipulations such as the use of microdoses of rHuEpo. METHODS: Forty-five whole-blood transcriptional markers of rHuEpo previously derived from a high-dose rHuEpo administration trial were used to assess whether microdoses of rHuEpo could be detected in 14 trained subjects and whether these markers may be confounded by exercise (n = 14 trained subjects) and altitude training (n = 21 elite runners and n = 4 elite rowers, respectively)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28979141/genome-scale-analysis-to-identify-prognostic-markers-in-patients-with-early-stage-pancreatic-ductal-adenocarcinoma-after-pancreaticoduodenectomy
#2
Xiwen Liao, Ketuan Huang, Rui Huang, Xiaoguang Liu, Chuangye Han, Long Yu, Tingdong Yu, Chengkun Yang, Xiangkun Wang, Tao Peng
BACKGROUND: Molecular analysis is a promising source of clinically useful prognostic biomarkers. The aim of this investigation was to identify prognostic biomarkers for patients with early-stage pancreatic ductal adenocarcinoma (PDAC) after pancreaticoduodenectomy. METHODS: An RNA sequencing dataset of PDAC was obtained from The Cancer Genome Atlas. Survival analysis and weighted gene co-expression network analysis were used to investigate the prognostic markers of early-stage PDAC after pancreaticoduodenectomy...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28965845/the-immune-signaling-adaptor-lat-contributes-to-the-neuroanatomical-phenotype-of-16p11-2-bp2-bp3-cnvs
#3
Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C Collins, Konstantin Popadin, Camille S Bonnet, Giuliana Giannuzzi, Anne M Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond
Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, anatomical, and metabolic pathologies. These two CNVs are engaged in complex reciprocal chromatin looping, intimating a functional relationship between genes in these regions that might be relevant to pathomechanism...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28789679/consensus-strategy-in-genes-prioritization-and-combined-bioinformatics-analysis-for-preeclampsia-pathogenesis
#4
Eduardo Tejera, Maykel Cruz-Monteagudo, Germán Burgos, María-Eugenia Sánchez, Aminael Sánchez-Rodríguez, Yunierkis Pérez-Castillo, Fernanda Borges, Maria Natália Dias Soeiro Cordeiro, César Paz-Y-Miño, Irene Rebelo
BACKGROUND: Preeclampsia is a multifactorial disease with unknown pathogenesis. Even when recent studies explored this disease using several bioinformatics tools, the main objective was not directed to pathogenesis. Additionally, consensus prioritization was proved to be highly efficient in the recognition of genes-disease association. However, not information is available about the consensus ability to early recognize genes directly involved in pathogenesis. Therefore our aim in this study is to apply several theoretical approaches to explore preeclampsia; specifically those genes directly involved in the pathogenesis...
August 8, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28743717/analysis-of-the-recovery-of-cd247-expression-in-a-pid-patient-insights-into-the-spontaneous-repair-of-defective-genes
#5
Alfonso Blázquez-Moreno, Adriana Pérez-Portilla, Miriam Agúndez-Llaca, Daniela Dukovska, Mar Valés-Gómez, Cigdem Aydogmus, Aydan Ikinciogullari, José R Regueiro, Hugh T Reyburn
Mutations in T-cell antigen receptor (TCR) subunit genes cause rare immunodeficiency diseases characterized by impaired expression of the TCR at the cell surface and selective T lymphopenia. Here, detailed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expression, in a newly identified CD247-deficient patient are described. The recovery of CD247 expression in some patient T cells was associated with both reversion of the inactivating mutation and a variant with a compensating mutation that could reconstitute TCR expression, but not as efficiently as wild-type CD247...
September 7, 2017: Blood
https://www.readbyqxmd.com/read/28652325/transmembrane-features-governing-fc-receptor-cd16a-assembly-with-cd16a-signaling-adaptor-molecules
#6
Alfonso Blázquez-Moreno, Soohyung Park, Wonpil Im, Melissa J Call, Matthew E Call, Hugh T Reyburn
Many activating immunoreceptors associate with signaling adaptor molecules like FcεR1γ or CD247. FcεR1γ and CD247 share high sequence homology and form disulphide-linked homodimers that contain a pair of acidic aspartic acid residues in their transmembrane (TM) domains that mediate assembly, via interaction with an arginine residue at a similar register to these aspartic acids, with the activating immunoreceptors. However, this model cannot hold true for receptors like CD16A, whose TM domains do not contain basic residues...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28526340/unfolding-the-pathogenesis-of-scleroderma-through-genomics-and-epigenomics
#7
REVIEW
Pei-Suen Tsou, Amr H Sawalha
With unknown etiology, scleroderma (SSc) is a multifaceted disease characterized by immune activation, vascular complications, and excessive fibrosis in internal organs. Genetic studies, including candidate gene association studies, genome-wide association studies, and whole-exome sequencing have supported the notion that while genetic susceptibility to SSc appears to be modest, SSc patients are genetically predisposed to this disease. The strongest genetic association for SSc lies within the MHC region, with loci in HLA-DRB1, HLA-DQB1, HLA-DPB1, and HLA-DOA1 being the most replicated...
September 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28434122/the-status-of-pulmonary-fibrosis-in-systemic-sclerosis-is-associated-with-irf5-stat4-irak1-and-ctgf-polymorphisms
#8
Wenjie Zhao, Xiaoyang Yue, Kuai Liu, Junfeng Zheng, Runda Huang, Jun Zou, Gabriela Riemekasten, Frank Petersen, Xinhua Yu
Pulmonary fibrosis (PF) is one of the leading causes of death in systemic sclerosis (SSc) patients. Although all SSc patients are characterized by autoimmunity, only part of them suffer from PF, suggesting that beside autoimmunity, some additional factors are involved in the initiation of PF in SSc. In this study, we aimed to identify genetic polymorphisms associated with the status of PF in SSc. We performed that an exhaustive search of the PubMed database was performed to identify eligible studies. Then, a comprehensive meta-analysis was performed by comparing PF(+)-SSc and PF(-)-SSc patients to identify genetic polymorphisms associated with the status of PF in SSc...
August 2017: Rheumatology International
https://www.readbyqxmd.com/read/27984087/genomic-and-genetic-studies-of-systemic-sclerosis-a-systematic-review
#9
REVIEW
Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Systemic sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be involved. This review aimed to assess HLA alleles/non-HLA polymorphisms, microsatellites and chromosomal abnormalities that have thus far been associated with SSc. PubMed, Embase and Scopus databases were searched up to July 29, 2015 using a combination of search-terms. Articles retrieved were evaluated based on set exclusion and inclusion criteria...
February 2017: Human Immunology
https://www.readbyqxmd.com/read/27716086/association-of-cd247-cd3%C3%AE-gene-polymorphisms-with-t1d-and-aitd-in-the-population-of-northern-sweden
#10
Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson, Sofia Mayans
BACKGROUND: T1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes very challenging. The general aim of this study was to identify loci and genes contributing to T1D/AITD susceptibility. Our strategy was to perform linkage and association studies in the relatively genetically homogenous population of northern Sweden. We performed a GWLS to find genomic regions linked to T1D/AITD in families from northern Sweden and we performed an association study in the families to test for association between T1D/AITD and variants in previously published candidate genes as well as a novel candidate gene, CD247...
October 4, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27555457/primary-t-cell-immunodeficiency-with-functional-revertant-somatic-mosaicism-in-cd247
#11
Ana V Marin, Anaïs Jiménez-Reinoso, Alejandro C Briones, Miguel Muñoz-Ruiz, Cigdem Aydogmus, Luke J Pasick, Jorge Couso, Marina S Mazariegos, Angel F Alvarez-Prado, Alfonso Blázquez-Moreno, Funda E Cipe, Sule Haskologlu, Figen Dogu, Matías Morín, Miguel A Moreno-Pelayo, Félix García-Sánchez, Juana Gil-Herrera, Edgar Fernández-Malavé, Hugh T Reyburn, Almudena R Ramiro, Aydan Ikinciogullari, Maria J Recio, Jose R Regueiro, Beatriz Garcillán
No abstract text is available yet for this article.
August 20, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27313329/genetic-risk-factors-for-sclerotic-graft-versus-host-disease
#12
Yoshihiro Inamoto, Paul J Martin, Mary E D Flowers, Stephanie J Lee, Paul A Carpenter, Edus H Warren, Daniel E Geraghty, Ni Lee, Michael J Boeckh, Barry E Storer, David M Levine, Wenhong Fan, Lue-Ping Zhao, John A Hansen
Sclerotic graft-versus-host disease (GVHD) is a distinctive phenotype of chronic GVHD after allogeneic hematopoietic cell transplantation, characterized by fibrosis of skin or fascia. Sclerotic GVHD has clinical and histopathological similarities with systemic sclerosis, an autoimmune disease whose risk is influenced by genetic polymorphisms. We examined 13 candidate single-nucleotide polymorphisms (SNPs) that have a well-documented association with systemic sclerosis to determine whether these SNPs are also associated with the risk of sclerotic GVHD...
September 15, 2016: Blood
https://www.readbyqxmd.com/read/27178742/clinical-significance-of-circulating-cd33-cd11b-hla-dr-myeloid-cells-in-patients-with-stage-iv-melanoma-treated-with-ipilimumab
#13
Moshe Sade-Feldman, Julia Kanterman, Yair Klieger, Eliran Ish-Shalom, Mizrahi Olga, Amijai Saragovi, Hani Shtainberg, Michal Lotem, Michal Baniyash
PURPOSE: High levels of circulating myeloid-derived suppressor cells (MDSCs) in various cancer types, including melanoma, were shown to correlate with poor survival. We investigated whether frequencies of circulating CD33(+)CD11b(+)HLA-DR(-) MDSCs could be used as immune system monitoring biomarkers to predict response and survival of patients with stage IV melanoma treated with anti-CTLA4 (ipilimumab) therapy. EXPERIMENTAL DESIGN: Peripheral blood samples from 56 patients and 50 healthy donors (HDs) were analyzed for CD33(+)CD11b(+)HLA-DR(-) MDSC percentage, NO(-), and hROS levels by flow cytometry...
December 1, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27134258/analysis-of-systemic-sclerosis-associated-genes-in-a-turkish-population
#14
F David Carmona, Ahmet Mesut Onat, Tamara Fernández-Aranguren, Alberto Serrano-Fernández, Gema Robledo, Haner Direskeneli, Amr H Sawalha, Sule Yavuz, Javier Martín
OBJECTIVE: To evaluate the genetic background of systemic sclerosis (SSc) in the Turkish population. METHODS: There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc genetic markers (IRF5-rs10488631, STAT4-rs3821236, CD247-rs2056626, DNASE1L3-rs35677470, IL12A-rs77583790, and ATG5-rs9373839). Association tests were conducted to identify possible associations. RESULTS: Except for ATG5, all the analyzed genes showed either significant associations (IRF5: p = 1...
July 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27118209/tcr-cd3%C3%AE-gene-polymorphisms-and-expression-profile-in-rheumatoid-arthritis
#15
Peng Li, Xiu Wang, Meng-Qin Zhao, Lian-Ju Li, Chao Zhang, Bao-Zhu Li, Juan Liu, Xiao-Ke Yang, Rui-Xue Leng, Yin-Guang Fan, Hai-Feng Pan, Dong-Qing Ye
OBJECTIVES: Recent evidence has demonstrated that CD3ζ (also called CD247) play a vital role in multiple autoimmune diseases. In this study, we explored the association between CD247 gene single-nucleotide polymorphisms (SNPs) and rheumatoid arthritis (RA) in a Chinese Han population. We also evaluated the CD3ζ expression profile in peripheral blood mononuclear cells (PBMCs) from patients with RA and health controls. METHODS: Three CD247 polymorphisms (rs704853, rs1214611 and rs858554) were studied in 612 patients with RA and 848 controls in a Chinese population...
April 26, 2016: Autoimmunity
https://www.readbyqxmd.com/read/26872611/mapk1-erk2-as-novel-target-genes-for-pain-in-head-and-neck-cancer-patients
#16
Cielito C Reyes-Gibby, Jian Wang, Mary Rose T Silvas, Robert Yu, Sai-Ching J Yeung, Sanjay Shete
BACKGROUND: Genetic susceptibility plays an important role in the risk of developing pain in individuals with cancer. As a complex trait, multiple genes underlie this susceptibility. We used gene network analyses to identify novel target genes associated with pain in patients newly diagnosed with squamous cell carcinoma of the head and neck (HNSCC). RESULTS: We first identified 36 cancer pain-related genes (i.e., focus genes) from 36 publications based on a literature search...
February 13, 2016: BMC Genetics
https://www.readbyqxmd.com/read/26786204/cns-wide-sexually-dimorphic-induction-of-the-major-histocompatibility-complex-1-pathway-with-aging
#17
Colleen A Mangold, Dustin R Masser, David R Stanford, Georgina V Bixler, Aditya Pisupati, Cory B Giles, Jonathan D Wren, Matthew M Ford, William E Sonntag, Willard M Freeman
The major histocompatibility complex I (MHCI) pathway, which canonically functions in innate immune viral antigen presentation and detection, is functionally pleiotropic in the central nervous system (CNS). Alternative roles include developmental synapse pruning, regulation of synaptic plasticity, and inhibition of neuronal insulin signaling; all processes altered during brain aging. Upregulation of MHCI components with aging has been reported; however, no systematic examination of MHCI cellular localization, expression, and regulation across CNS regions, life span, and sexes has been reported...
January 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/26608909/impaired-snx9-expression-in-immune-cells-during-chronic-inflammation-prognostic-and-diagnostic-implications
#18
Eliran Ish-Shalom, Yaron Meirow, Moshe Sade-Feldman, Julia Kanterman, Lynn Wang, Olga Mizrahi, Yair Klieger, Michal Baniyash
Chronic inflammation is associated with immunosuppression and downregulated expression of the TCR CD247. In searching for new biomarkers that could validate the impaired host immune status under chronic inflammatory conditions, we discovered that sorting nexin 9 (SNX9), a protein that participates in early stages of clathrin-mediated endocytosis, is downregulated as well under such conditions. SNX9 expression was affected earlier than CD247 by the generated harmful environment, suggesting that it is a potential marker sensing the generated immunosuppressive condition...
January 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/26606254/comprehensive-survey-of-mirna-mrna-interactions-reveals-that-ccr7-and-cd247-cd3-zeta-are-posttranscriptionally-controlled-in-pancreas-infiltrating-t-lymphocytes-of-non-obese-diabetic-nod-mice
#19
Thais A Fornari, Paula B Donate, Amanda F Assis, Claudia Macedo, Elza T Sakamoto-Hojo, Eduardo A Donadi, Geraldo A Passos
In autoimmune type 1 diabetes mellitus (T1D), auto-reactive clones of CD4+ and CD8+ T lymphocytes in the periphery evolve into pancreas-infiltrating T lymphocytes (PILs), which destroy insulin-producing beta-cells through inflammatory insulitis. Previously, we demonstrated that, during the development of T1D in non-obese diabetic (NOD) mice, a set of immune/inflammatory reactivity genes were differentially expressed in T lymphocytes. However, the posttranscriptional control involving miRNA interactions that occur during the evolution of thymocytes into PILs remains unknown...
2015: PloS One
https://www.readbyqxmd.com/read/26542031/natural-killer-cell-hyporesponsiveness-and-impaired-development-in-a-cd247-deficient-patient
#20
LETTER
Mar Valés-Gómez, Gloria Esteso, Cigdem Aydogmus, Alfonso Blázquez-Moreno, Ana V Marín, Alejandro C Briones, Beatriz Garcillán, Eva-María García-Cuesta, Sheila López Cobo, Sule Haskologlu, Manuela Moraru, Funda Cipe, Kerry Dobbs, Figen Dogu, Silvia Parolini, Luigi D Notarangelo, Carlos Vilches, Maria J Recio, José R Regueiro, Aydan Ikinciogullari, Hugh T Reyburn
No abstract text is available yet for this article.
March 2016: Journal of Allergy and Clinical Immunology
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