DOCSLIB.ORG

Gene Section Review

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Gene Section Review Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review PARVB (parvin, beta) Cameron N Johnstone Cancer Metastasis Laboratory, Research Division, Peter MacCallum Cancer Centre, 2 St Andrew's Place, East Melbourne, 3002, Victoria, Australia (CNJ) Published in Atlas Database: April 2010 Online updated version : http://AtlasGeneticsOncology.org/Genes/PARVBID46486ch22q13.html DOI: 10.4267/2042/44936 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity DNA/RNA Other names: CGI-56, affixin, beta-parvin Note HGNC (Hugo): PARVB Genethon marker D22S1171 is located at the 5' end of Location: 22q13.31 the gene (Mongroo et al., 2004). Genethon marker Local order: PARVB is located telomeric to the D22S1171 is located between exon 2 and exon 1A of SAMM50 gene and centromeric to the PARVG gene the PARVB gene. at 22q13.31. The PARVA gene is located at 11p15.3. Figure A. Generation of transcript diversity by alternative promoter usage. Horizontal lines above the gene structure indicate human genomic DNA BAC clones. The NCBI accession numbers of the clones, and clone names (in brackets) are shown. Figure adapted from Mongroo et al., 2004. Atlas Genet Cytogenet Oncol Haematol. 2011; 15(1) 34 PARVB (parvin, beta) Johnstone CN Figure B. Human polyA+ RNA Multiple Tissue Northern blot (Origene) probed with full-length PARVB1 cDNA probe radiolabeled to a specific activity of > 5 x 108 cpm / mg (Johnstone C.N., unpublished). The two PARVB mRNA transcripts are indicated. The higher M.W. band most likely corresponds to non-specific hybridization (n/s). Description (ABS), although Parvin-beta has not been shown to bind actin directly (Korenbaum et al., 2001; Sepulveda PARVB3/CLINT, which encodes the longer Parvin- and Wu, 2006). Parvin-beta physically interacts with beta protein isoform is transcribed from promoter 1 and Dysferlin and ARHGEF6 (alpha-PIX) through the CH1 contains two additional 5' exons (exons 1 and 2) not domain (Matsuda et al., 2005; Rosenberger et al., 2003) present in PARVB1, and comprises 14 exons in total. and with ILK and alpha-actinin through the CH2 PARVB1 encodes the shorter Parvin-beta protein domain (Yamaji et al., 2001; Yamaji et al., 2004). isoform, is transcribed from promoter 1A, and Parvin-beta was also recently reported to directly comprises 13 exons in total. Both promoters contain interact with AKT (Kimura et al., 2010). CpG islands that span the transcription start sites. PARVB3/CLINT contains 70 unique N-terminal amino Expression acids not present in the short isoform. (See figure A). PARVB is essentially ubiquitously expressed. Transcription Localisation As with PARVA, human PARVB mRNA expression is Parvin-beta localises to focal adhesions but also to the highest in heart, followed by skeletal muscle, where it nucleus, which is most likely due to NLS motifs in the localises to the sarcolemma (Yamaji et al., 2001; N-terminal region (Mongroo et al., 2004; Johnstone et Matsuda et al., 2005). Both PARVB mRNA transcripts al., 2008). Parvin-beta is incorporated into focal are essentially ubiquitously expressed (Korenbaum et adhesions as part of the heterotrimeric 'IPP complex'. al., 2001), but with lower expression in gastrointestinal The ternary complex contains 1 molecule of integrin tissues (stomach, small intestine, colon). (See figure B). linked kinase (ILK), 1 Parvin isoform, and 1 PINCH (LIMS) isoform, (Legate et al., 2006). Binding of Protein Parvin-alpha and Parvin-beta to the kinase domain of ILK is mutually exclusive (Zhang et al., 2004). Description Formation of the IPP complex also dictates total protein The major functional domains of Parvin-beta are two levels of each component, as any excess ILK, Parvin, 'atypical' calponin homology (CH) domains, termed or PINCH not incorporated into IPP is degraded in a CH1 (106 amino acids) and CH2 (107 amino acids). proteasome-dependent manner (Fukuda et al., 2003). Each CH domain contains two actin binding sequences Atlas Genet Cytogenet Oncol Haematol. 2011; 15(1) 35 PARVB (parvin, beta) Johnstone CN Depiction of functional domains of Parvin-beta(long) and Parvin-beta(short). NLS, nuclear localization sequence; ABS, actin binding sequence; CH, calponin homology. Adapted from Sepulveda and Wu, 2006. Function Homology Parvin-beta participates in focal adhesion dynamics Human Parvin-beta is most closely related to Parvin- through involvement in the IPP complex. The high alpha [75% identity with Parvin-beta(short) and 67% expression levels in cardiac and skeletal muscle suggest identity with Parvin-beta(long)] and more distantly to important function(s) in these organs. In skeletal Parvin-gamma [41% identity with both Parvin- muscle, it binds dysferlin at the sarcolemma and thus beta(short) and Parvin-beta(long)]. may be involved with membrane repair (Yamaji et al., 2001; Matsuda et al., 2005; Legate et al., 2006). Parvin- Mutations beta and Parvin-alpha appear to negatively regulate the expression of each other (Zhang et al., 2004; Johnstone Note et al., 2008). Parvin-beta may modulate signalling No mutations reported to date. through ILK as overexpression of Parvin-beta reduced Germinal AKT (S473) and GSK3beta (S9) phosphorylation in Germline SNPs are identified in the PARVB gene by response to EGF stimulation (Mongroo et al., 2004). direct sequencing of PCR products amplified from Parvin-beta was recently reported to directly interact cDNA prepared from 16 primary ductal with AKT (Kimura et al., 2010), which may explain its adenocarcinomasand adjacent normal mammary gland effects on AKT phosphorylation. Parvin-beta interacts from the same patient. Two non-synonymous SNPs with ARHGEF6 (alpha-PIX), an exchange factor for were identified, W37R, and E175K (Johnstone et al., RAC1, thus implicating Parvin-beta in regulation of manuscript in preparation). RAC signalling downstream of integrin engagement (Rosenberger et al., 2003). Finally, Parvin-beta may Somatic affect metabolic pathways through promotion of No somatic mutations were found in an analysis of 16 CDK9-mediated phosphorylation and activation of breast adenocarcinomas as presented above (Johnstone PPARgamma transcriptional activity in the nucleus et al., manuscript in preparation). According to the (Johnstone et al., 2008). Interestingly, Parvb knockout C.O.S.M.I.C. online database (Forbes et al., 2008), 171 mice were recently generated. Whilst constitutive Parva unique cancer samples have been analysed for null mice feature kidney and cardiovascular defects and alterations in the PARVB gene, with no somatic die between E10.5 and E14.5 (Lange et al., 2009; changes found. A breakdown of the samples analysed Montanez et al., 2009), constitutive Parvb null mice are is given below. viable (Wickström et al., 2010), although a detailed phenotypic analysis has not yet been described. Amino Acid Amino Acid Name Alleles Location Base Position† No. of Alleles Position‡ change A98C A/C Intron 1 98** n/a n/a 3/8 W37R T/C Exon 2 252 37 W>R 3/8 D150D C/T Exon 5 593 150 D>D 2/32 E175K G/A Exon 6 666 175 E>K 2/32 A223A C/T Exon 7 812 223 A>A 2/32 G316G^ C/T Exon 12 1097 318 G>G 2/32 F354F^ C/T Exon 13 1205 354 F>F 2/32 † Relative to transcription start site ‡ Relative to translation start site ^ Occur as a haplotype Atlas Genet Cytogenet Oncol Haematol. 2011; 15(1) 36 PARVB (parvin, beta) Johnstone CN ** Relative to splice site Cancer Type No. of Specimens Reference Breast 11 Sjöblom et al., 2006 Glioma 23 Parsons et al., 2008 Clear Cell Renal 101 Dalgliesh et al., 2010 Colon 12 Sjöblom et al., 2006 Lung (cell lines) 11 N/A Pancreas (cell lines) 1 N/A Mesothelioma (cell lines) 1 N/A Melanoma (cell lines) 6 N/A Urinary tract (cell lines) 2 N/A HNSCC (cell lines) 3 N/A involvement of alphaPIX in integrin-mediated signaling. Hum Implicated in Mol Genet. 2003 Jan 15;12(2):155-67 Breast cancer Mongroo PS, Johnstone CN, Naruszewicz I, Leung-Hagesteijn C, Sung RK, Carnio L, Rustgi AK, Hannigan GE. Beta-parvin Note inhibits integrin-linked kinase signaling and is downregulated in Parvin-beta mRNA levels are reduced in primary breast cancer. Oncogene. 2004 Nov 25;23(55):8959-70 human ductal adenocarcinoma compared with adjacent Yamaji S, Suzuki A, Kanamori H, Mishima W, Yoshimi R, et al. normal mammary gland. PARVB mRNA levels are Affixin interacts with alpha-actinin and mediates integrin also reduced in MDA-MB-231 and MDA-MB-453 cell signaling for reorganization of F-actin induced by initial cell- substrate interaction. J Cell Biol. 2004 May 24;165(4):539-51 lines. Post-transcriptional downregulation of protein expression may also occur in cancer cells such as Zhang Y, Chen K, Tu Y, Wu C. Distinct roles of two structurally closely related focal adhesion proteins, alpha-parvins and MCF7 (Mongroo et al., 2004). Ectopic Parvin-beta beta-parvins, in regulation of cell morphology and survival. J expression in MDA-MB-231 metastatic breast cancer Biol Chem. 2004 Oct 1;279(40):41695-705 cells increased adhesion and reduced invasion. Ectopic Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, et expression also reduced tumorigenicity of the same cell al. Dysferlin interacts with affixin (beta-parvin) at the line in nude mice in vivo. Parvin-beta expression did sarcolemma. J Neuropathol Exp Neurol. 2005 Apr;64(4):334- not affect proliferation of the cells in vitro, but reduced 40 Ki-67 staining was observed in Parvin-beta Legate KR, Montañez E, Kudlacek O, Fässler R. ILK, PINCH transfectants in vivo (Johnstone et al., 2008). Parvin- and parvin: the tIPP of integrin signalling. Nat Rev Mol Cell beta overexpression was also reported to promote Biol.
Load more

Recommended publications
  • Deregulated Gene Expression Pathways in Myelodysplastic Syndrome Hematopoietic Stem Cells
    Leukemia (2010) 24, 756–764 & 2010 Macmillan Publishers Limited All rights reserved 0887-6924/10 $32.00 www.nature.com/leu ORIGINAL ARTICLE Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells A Pellagatti1, M Cazzola2, A Giagounidis3, J Perry1, L Malcovati2, MG Della Porta2,MJa¨dersten4, S Killick5, A Verma6, CJ Norbury7, E Hellstro¨m-Lindberg4, JS Wainscoat1 and J Boultwood1 1LRF Molecular Haematology Unit, NDCLS, John Radcliffe Hospital, Oxford, UK; 2Department of Hematology Oncology, University of Pavia Medical School, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; 3Medizinische Klinik II, St Johannes Hospital, Duisburg, Germany; 4Division of Hematology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden; 5Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK; 6Albert Einstein College of Medicine, Bronx, NY, USA and 7Sir William Dunn School of Pathology, University of Oxford, Oxford, UK To gain insight into the molecular pathogenesis of the the World Health Organization.6,7 Patients with refractory myelodysplastic syndromes (MDS), we performed global gene anemia (RA) with or without ringed sideroblasts, according to expression profiling and pathway analysis on the hemato- poietic stem cells (HSC) of 183 MDS patients as compared with the the French–American–British classification, were subdivided HSC of 17 healthy controls. The most significantly deregulated based on the presence or absence of multilineage dysplasia. In pathways in MDS include interferon signaling, thrombopoietin addition, patients with RA with excess blasts (RAEB) were signaling and the Wnt pathways. Among the most signifi- subdivided into two categories, RAEB1 and RAEB2, based on the cantly deregulated gene pathways in early MDS are immuno- percentage of bone marrow blasts.
    [Show full text]
  • Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model
    Downloaded from http://www.jimmunol.org/ by guest on September 25, 2021 T + is online at: average * The Journal of Immunology , 34 of which you can access for free at: 2016; 197:1477-1488; Prepublished online 1 July from submission to initial decision 4 weeks from acceptance to publication 2016; doi: 10.4049/jimmunol.1600589 http://www.jimmunol.org/content/197/4/1477 Molecular Profile of Tumor-Specific CD8 Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A. Waugh, Sonia M. Leach, Brandon L. Moore, Tullia C. Bruno, Jonathan D. Buhrman and Jill E. Slansky J Immunol cites 95 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html http://www.jimmunol.org/content/suppl/2016/07/01/jimmunol.160058 9.DCSupplemental This article http://www.jimmunol.org/content/197/4/1477.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2016 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. This information is current as of September 25, 2021. The Journal of Immunology Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A.
    [Show full text]
  • The N-Cadherin Interactome in Primary Cardiomyocytes As Defined Using Quantitative Proximity Proteomics Yang Li1,*, Chelsea D
    © 2019. Published by The Company of Biologists Ltd | Journal of Cell Science (2019) 132, jcs221606. doi:10.1242/jcs.221606 TOOLS AND RESOURCES The N-cadherin interactome in primary cardiomyocytes as defined using quantitative proximity proteomics Yang Li1,*, Chelsea D. Merkel1,*, Xuemei Zeng2, Jonathon A. Heier1, Pamela S. Cantrell2, Mai Sun2, Donna B. Stolz1, Simon C. Watkins1, Nathan A. Yates1,2,3 and Adam V. Kwiatkowski1,‡ ABSTRACT requires multiple adhesion, cytoskeletal and signaling proteins, The junctional complexes that couple cardiomyocytes must transmit and mutations in these proteins can cause cardiomyopathies (Ehler, the mechanical forces of contraction while maintaining adhesive 2018). However, the molecular composition of ICD junctional homeostasis. The adherens junction (AJ) connects the actomyosin complexes remains poorly defined. – networks of neighboring cardiomyocytes and is required for proper The core of the AJ is the cadherin catenin complex (Halbleib and heart function. Yet little is known about the molecular composition of the Nelson, 2006; Ratheesh and Yap, 2012). Classical cadherins are cardiomyocyte AJ or how it is organized to function under mechanical single-pass transmembrane proteins with an extracellular domain that load. Here, we define the architecture, dynamics and proteome of mediates calcium-dependent homotypic interactions. The adhesive the cardiomyocyte AJ. Mouse neonatal cardiomyocytes assemble properties of classical cadherins are driven by the recruitment of stable AJs along intercellular contacts with organizational and cytosolic catenin proteins to the cadherin tail, with p120-catenin β structural hallmarks similar to mature contacts. We combine (CTNND1) binding to the juxta-membrane domain and -catenin β quantitative mass spectrometry with proximity labeling to identify the (CTNNB1) binding to the distal part of the tail.
    [Show full text]
  • Spatiotemporal Profiling of Cytosolic Signaling Complexes in Living Cells by Selective Proximity Proteomics
    ARTICLE https://doi.org/10.1038/s41467-020-20367-x OPEN Spatiotemporal profiling of cytosolic signaling complexes in living cells by selective proximity proteomics Mi Ke1,6, Xiao Yuan1,6,AnHe1, Peiyuan Yu 1, Wendong Chen1, Yu Shi2, Tony Hunter 2, Peng Zou 3 & ✉ Ruijun Tian 1,4,5 1234567890():,; Signaling complexes are often organized in a spatiotemporal manner and on a minute timescale. Proximity labeling based on engineered ascorbate peroxidase APEX2 pioneered in situ capture of spatiotemporal membrane protein complexes in living cells, but its appli- cation to cytosolic proteins remains limited due to the high labeling background. Here, we develop proximity labeling probes with increased labeling selectivity. These probes, in combination with label-free quantitative proteomics, allow exploring cytosolic protein assemblies such as phosphotyrosine-mediated protein complexes formed in response to minute-scale EGF stimulation. As proof-of-concept, we systematically profile the spatio- temporal interactome of the EGFR signaling component STS1. For STS1 core complexes, our proximity proteomics approach shows comparable performance to affinity purification-mass spectrometry-based temporal interactome profiling, while also capturing additional— especially endosomally-located—protein complexes. In summary, we provide a generic approach for exploring the interactome of mobile cytosolic proteins in living cells at a tem- poral resolution of minutes. 1 Department of Chemistry, School of Science, Southern University of Science and Technology, Shenzhen, China. 2 Molecular and Cell Biology Laboratory, Salk Institute for Biological Studies, La Jolla, CA, USA. 3 College of Chemistry and Molecular Engineering, Peking University, Beijing, China. 4 Guangdong Provincial Key Laboratory of Cell Microenvironment and Disease Research, Southern University of Science and Technology, Shenzhen, China.
    [Show full text]
  • Genome-Wide DNA Methylation and Long-Term Ambient Air Pollution
    Lee et al. Clinical Epigenetics (2019) 11:37 https://doi.org/10.1186/s13148-019-0635-z RESEARCH Open Access Genome-wide DNA methylation and long- term ambient air pollution exposure in Korean adults Mi Kyeong Lee1 , Cheng-Jian Xu2,3,4, Megan U. Carnes5, Cody E. Nichols1, James M. Ward1, The BIOS consortium, Sung Ok Kwon6, Sun-Young Kim7*†, Woo Jin Kim6*† and Stephanie J. London1*† Abstract Background: Ambient air pollution is associated with numerous adverse health outcomes, but the underlying mechanisms are not well understood; epigenetic effects including altered DNA methylation could play a role. To evaluate associations of long-term air pollution exposure with DNA methylation in blood, we conducted an epigenome- wide association study in a Korean chronic obstructive pulmonary disease cohort (N = 100 including 60 cases) using Illumina’s Infinium HumanMethylation450K Beadchip. Annual average concentrations of particulate matter ≤ 10 μmin diameter (PM10) and nitrogen dioxide (NO2) were estimated at participants’ residential addresses using exposure prediction models. We used robust linear regression to identify differentially methylated probes (DMPs) and two different approaches, DMRcate and comb-p, to identify differentially methylated regions (DMRs). Results: After multiple testing correction (false discovery rate < 0.05), there were 12 DMPs and 27 DMRs associated with PM10 and 45 DMPs and 57 DMRs related to NO2. DMP cg06992688 (OTUB2) and several DMRs were associated with both exposures. Eleven DMPs in relation to NO2 confirmed previous findings in Europeans; the remainder were novel. Methylation levels of 39 DMPs were associated with expression levels of nearby genes in a separate dataset of 3075 individuals.
    [Show full text]
  • Investigation of the Underlying Hub Genes and Molexular Pathogensis in Gastric Cancer by Integrated Bioinformatic Analyses
    bioRxiv preprint doi: https://doi.org/10.1101/2020.12.20.423656; this version posted December 22, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Investigation of the underlying hub genes and molexular pathogensis in gastric cancer by integrated bioinformatic analyses Basavaraj Vastrad1, Chanabasayya Vastrad*2 1. Department of Biochemistry, Basaveshwar College of Pharmacy, Gadag, Karnataka 582103, India. 2. Biostatistics and Bioinformatics, Chanabasava Nilaya, Bharthinagar, Dharwad 580001, Karanataka, India. * Chanabasayya Vastrad [email protected] Ph: +919480073398 Chanabasava Nilaya, Bharthinagar, Dharwad 580001 , Karanataka, India bioRxiv preprint doi: https://doi.org/10.1101/2020.12.20.423656; this version posted December 22, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Abstract The high mortality rate of gastric cancer (GC) is in part due to the absence of initial disclosure of its biomarkers. The recognition of important genes associated in GC is therefore recommended to advance clinical prognosis, diagnosis and and treatment outcomes. The current investigation used the microarray dataset GSE113255 RNA seq data from the Gene Expression Omnibus database to diagnose differentially expressed genes (DEGs). Pathway and gene ontology enrichment analyses were performed, and a proteinprotein interaction network, modules, target genes - miRNA regulatory network and target genes - TF regulatory network were constructed and analyzed. Finally, validation of hub genes was performed. The 1008 DEGs identified consisted of 505 up regulated genes and 503 down regulated genes.
    [Show full text]
  • 1 Title: Re-Annotation of the Theileria Parva Genome Refines 53% of the Proteome And
    bioRxiv preprint doi: https://doi.org/10.1101/749366; this version posted August 31, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 1 Title: Re-annotation of the Theileria parva genome refines 53% of the proteome and 2 uncovers essential components of N-glycosylation, a conserved pathway in many 3 organisms 4 Kyle Tretina1, Roger Pelle2, Joshua Orvis1, Hanzel T. Gotia1, Olukemi O. Ifeonu1, Priti 5 Kumari1, Nicholas C. Palmateer1, Shaikh B.A. Iqbal1, Lindsay Fry3,4, Vishvanath M. 6 Nene5, Claudia Daubenberger6, Richard P. Bishop3, Joana C. Silva1,7* 7 Affiliations: 8 1Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, 9 MD, USA 10 2Biosciences eastern and central Africa-International Livestock Research Institute, 11 Nairobi, Kenya 12 3Animal Disease Research Unit, Agricultural Research Service, USDA, Pullman, WA 13 99164-7030, USA 14 4Department of Veterinary Microbiology & Pathology, Washington State University 15 Pullman, WA 99164-7040, USA 16 5International Livestock Research Institute, Nairobi, Kenya 17 6Swiss Tropical and Public Health Institute, Basel, Switzerland & University of Basel, 18 Basel, Switzerland 19 7Department of Microbiology and Immunology, University of Maryland School of 20 Medicine, Baltimore, MD, USA 21 *Corresponding author 22 23 1 bioRxiv preprint doi: https://doi.org/10.1101/749366; this version posted August 31, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 24 Abstract (<350 words) 25 Background: Genome annotation remains a significant challenge because of limitations in 26 the quality and quantity of the data being used to inform the location and function of 27 protein-coding genes and, when RNA data are used, the underlying biological complexity 28 of the processes involved in gene expression.
    [Show full text]
  • Supplementary Table S2
    1-high in cerebrotropic Gene P-value patients Definition BCHE 2.00E-04 1 Butyrylcholinesterase PLCB2 2.00E-04 -1 Phospholipase C, beta 2 SF3B1 2.00E-04 -1 Splicing factor 3b, subunit 1 BCHE 0.00022 1 Butyrylcholinesterase ZNF721 0.00028 -1 Zinc finger protein 721 GNAI1 0.00044 1 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 GNAI1 0.00049 1 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 PDE1B 0.00069 -1 Phosphodiesterase 1B, calmodulin-dependent MCOLN2 0.00085 -1 Mucolipin 2 PGCP 0.00116 1 Plasma glutamate carboxypeptidase TMX4 0.00116 1 Thioredoxin-related transmembrane protein 4 C10orf11 0.00142 1 Chromosome 10 open reading frame 11 TRIM14 0.00156 -1 Tripartite motif-containing 14 APOBEC3D 0.00173 -1 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D ANXA6 0.00185 -1 Annexin A6 NOS3 0.00209 -1 Nitric oxide synthase 3 SELI 0.00209 -1 Selenoprotein I NYNRIN 0.0023 -1 NYN domain and retroviral integrase containing ANKFY1 0.00253 -1 Ankyrin repeat and FYVE domain containing 1 APOBEC3F 0.00278 -1 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F EBI2 0.00278 -1 Epstein-Barr virus induced gene 2 ETHE1 0.00278 1 Ethylmalonic encephalopathy 1 PDE7A 0.00278 -1 Phosphodiesterase 7A HLA-DOA 0.00305 -1 Major histocompatibility complex, class II, DO alpha SOX13 0.00305 1 SRY (sex determining region Y)-box 13 ABHD2 3.34E-03 1 Abhydrolase domain containing 2 MOCS2 0.00334 1 Molybdenum cofactor synthesis 2 TTLL6 0.00365 -1 Tubulin tyrosine ligase-like family, member 6 SHANK3 0.00394 -1 SH3 and multiple ankyrin repeat domains 3 ADCY4 0.004 -1 Adenylate cyclase 4 CD3D 0.004 -1 CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.
    [Show full text]
  • Identification of Potential Key Genes and Pathway Linked with Sporadic Creutzfeldt-Jakob Disease Based on Integrated Bioinformatics Analyses
    medRxiv preprint doi: https://doi.org/10.1101/2020.12.21.20248688; this version posted December 24, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses Basavaraj Vastrad1, Chanabasayya Vastrad*2 , Iranna Kotturshetti 1. Department of Biochemistry, Basaveshwar College of Pharmacy, Gadag, Karnataka 582103, India. 2. Biostatistics and Bioinformatics, Chanabasava Nilaya, Bharthinagar, Dharwad 580001, Karanataka, India. 3. Department of Ayurveda, Rajiv Gandhi Education Society`s Ayurvedic Medical College, Ron, Karnataka 562209, India. * Chanabasayya Vastrad [email protected] Ph: +919480073398 Chanabasava Nilaya, Bharthinagar, Dharwad 580001 , Karanataka, India NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice. medRxiv preprint doi: https://doi.org/10.1101/2020.12.21.20248688; this version posted December 24, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. Abstract Sporadic Creutzfeldt-Jakob disease (sCJD) is neurodegenerative disease also called prion disease linked with poor prognosis. The aim of the current study was to illuminate the underlying molecular mechanisms of sCJD. The mRNA microarray dataset GSE124571 was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were screened.
    [Show full text]
  • Strains Used in Whole Organism Plasmodium Falciparum Vaccine Trials Differ in 2 Genome Structure, Sequence, and Immunogenic Potential 3 4 Authors: Kara A
    bioRxiv preprint doi: https://doi.org/10.1101/684175; this version posted June 27, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 1 Title: Strains used in whole organism Plasmodium falciparum vaccine trials differ in 2 genome structure, sequence, and immunogenic potential 3 4 Authors: Kara A. Moser1‡, Elliott F. Drábek1, Ankit Dwivedi1, Jonathan Crabtree1, Emily 5 M. Stucke2, Antoine Dara2, Zalak Shah2, Matthew Adams2, Tao Li3, Priscila T. 6 Rodrigues4, Sergey Koren5, Adam M. Phillippy5, Amed Ouattara2, Kirsten E. Lyke2, Lisa 7 Sadzewicz1, Luke J. Tallon1, Michele D. Spring6, Krisada Jongsakul6, Chanthap Lon6, 8 David L. Saunders6¶, Marcelo U. Ferreira4, Myaing M. Nyunt2§, Miriam K. Laufer2, Mark 9 A. Travassos2, Robert W. Sauerwein7, Shannon Takala-Harrison2, Claire M. Fraser1, B. 10 Kim Lee Sim3, Stephen L. Hoffman3, Christopher V. Plowe2§, Joana C. Silva1,8 11 12 Corresponding author: Joana C. Silva, [email protected] 13 Affiliations: 14 1 Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, 15 MD, 21201 16 2 Center for Vaccine Development and Global Health, University of Maryland School of 17 Medicine, Baltimore, MD, 21201 18 3 Sanaria, Inc. Rockville, Maryland, 20850 19 4 Department of Parasitology, Institute of Biomedical Sciences, University of São Paulo, 20 São Paulo, Brazil 21 5 Genome Informatics Section, Computational and Statistical Genomics Branch, 22 National Human
    [Show full text]
  • Plasma Cells in Vitro Generation of Long-Lived Human
    Downloaded from http://www.jimmunol.org/ by guest on September 24, 2021 is online at: average * The Journal of Immunology , 32 of which you can access for free at: 2012; 189:5773-5785; Prepublished online 16 from submission to initial decision 4 weeks from acceptance to publication November 2012; doi: 10.4049/jimmunol.1103720 http://www.jimmunol.org/content/189/12/5773 In Vitro Generation of Long-lived Human Plasma Cells Mario Cocco, Sophie Stephenson, Matthew A. Care, Darren Newton, Nicholas A. Barnes, Adam Davison, Andy Rawstron, David R. Westhead, Gina M. Doody and Reuben M. Tooze J Immunol cites 65 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription http://www.jimmunol.org/content/suppl/2012/11/16/jimmunol.110372 0.DC1 This article http://www.jimmunol.org/content/189/12/5773.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2012 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. This information is current as of September 24, 2021. The Journal of Immunology In Vitro Generation of Long-lived Human Plasma Cells Mario Cocco,*,1 Sophie Stephenson,*,1 Matthew A.
    [Show full text]
  • Validation of the PARVA C.392A<T Variant in a South African Family
    Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy Stephen Kamuli Thesis presented for the Degree of MASTER OF SCIENCE In the Department of Medicine UniversityUNIVERSITY OF of CAPE Cape TOWN Town Supervisor: Dr Gasnat Shaboodien Co-supervisor: Professor Bongani Mayosi August 2016 i The copyright of this thesis vests in the author. No quotation from it or information derived from it is to be published without full acknowledgement of the source. The thesis is to be used for private study or non- commercial research purposes only. Published by the University of Cape Town (UCT) in terms of the non-exclusive license granted to UCT by the author. University of Cape Town DECLARATION I, …Stephen Kamuli………………, hereby declare that the work on which this dissertation/thesis is based is my original work (except where acknowledgements indicate otherwise) and that neither the whole work nor any part of it has been, is being, or is to be submitted for another degree in this or any other university. I empower the university to reproduce for the purpose of research either the whole or any portion of the contents in any manner whatsoever. Signature: signature removed Date: 18 August 2016 ii TABLE OF CONTENTS TABLE OF CONTENTS ...................................................................................................................................... I ABSTRACT ....................................................................................................................................................
    [Show full text]