Entrez ID Gene Name Fold Change Q-Value Description

Total Page:16

File Type:pdf, Size:1020Kb

Entrez ID Gene Name Fold Change Q-Value Description Entrez ID gene name fold change q-value description 4283 CXCL9 -7.25 5.28E-05 chemokine (C-X-C motif) ligand 9 3627 CXCL10 -6.88 6.58E-05 chemokine (C-X-C motif) ligand 10 6373 CXCL11 -5.65 3.69E-04 chemokine (C-X-C motif) ligand 11 405753 DUOXA2 -3.97 3.05E-06 dual oxidase maturation factor 2 4843 NOS2 -3.62 5.43E-03 nitric oxide synthase 2, inducible 50506 DUOX2 -3.24 5.01E-06 dual oxidase 2 6355 CCL8 -3.07 3.67E-03 chemokine (C-C motif) ligand 8 10964 IFI44L -3.06 4.43E-04 interferon-induced protein 44-like 115362 GBP5 -2.94 6.83E-04 guanylate binding protein 5 3620 IDO1 -2.91 5.65E-06 indoleamine 2,3-dioxygenase 1 8519 IFITM1 -2.67 5.65E-06 interferon induced transmembrane protein 1 3433 IFIT2 -2.61 2.28E-03 interferon-induced protein with tetratricopeptide repeats 2 54898 ELOVL2 -2.61 4.38E-07 ELOVL fatty acid elongase 2 2892 GRIA3 -2.60 3.06E-05 glutamate receptor, ionotropic, AMPA 3 6376 CX3CL1 -2.57 4.43E-04 chemokine (C-X3-C motif) ligand 1 7098 TLR3 -2.55 5.76E-06 toll-like receptor 3 79689 STEAP4 -2.50 8.35E-05 STEAP family member 4 3434 IFIT1 -2.48 2.64E-03 interferon-induced protein with tetratricopeptide repeats 1 4321 MMP12 -2.45 2.30E-04 matrix metallopeptidase 12 (macrophage elastase) 10826 FAXDC2 -2.42 5.01E-06 fatty acid hydroxylase domain containing 2 8626 TP63 -2.41 2.02E-05 tumor protein p63 64577 ALDH8A1 -2.41 6.05E-06 aldehyde dehydrogenase 8 family, member A1 8740 TNFSF14 -2.40 6.35E-05 tumor necrosis factor (ligand) superfamily, member 14 10417 SPON2 -2.39 2.46E-06 spondin 2, extracellular matrix protein 3437 IFIT3 -2.38 2.74E-04 interferon-induced protein with tetratricopeptide repeats 3 54739 XAF1 -2.35 3.46E-06 XIAP associated factor 1 94240 EPSTI1 -2.29 2.79E-04 epithelial stromal interaction 1 (breast) 10346 TRIM22 -2.28 4.50E-06 tripartite motif containing 22 83953 FCAMR -2.28 1.16E-02 Fc receptor, IgA, IgM, high affinity 3934 LCN2 -2.26 1.95E-04 lipocalin 2 388646 GBP7 -2.25 1.82E-04 guanylate binding protein 7 57817 HAMP -2.24 5.28E-05 hepcidin antimicrobial peptide 2634 GBP2 -2.22 6.65E-05 guanylate binding protein 2, interferon-inducible 9288 TAAR3 -2.22 2.65E-02 trace amine associated receptor 3 (gene/pseudogene) 115361 GBP4 -2.21 2.38E-04 guanylate binding protein 4 6372 CXCL6 -2.20 8.74E-04 chemokine (C-X-C motif) ligand 6 10537 UBD -2.19 1.02E-06 ubiquitin D 11274 USP18 -2.18 3.82E-04 ubiquitin specific peptidase 18 51156 SERPINA10 -2.18 2.15E-05 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 6999 TDO2 -2.16 9.97E-03 tryptophan 2,3-dioxygenase 256764 WDR72 -2.15 1.02E-03 WD repeat domain 72 5920 RARRES3 -2.12 1.34E-06 retinoic acid receptor responder (tazarotene induced) 3 5284 PIGR -2.11 1.97E-03 polymeric immunoglobulin receptor 4939 OAS2 -2.10 5.36E-04 2'-5'-oligoadenylate synthetase 2, 69/71kDa 113146 AHNAK2 -2.09 6.05E-06 AHNAK nucleoprotein 2 4599 MX1 -2.07 5.70E-04 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 4940 OAS3 -2.06 4.49E-04 2'-5'-oligoadenylate synthetase 3, 100kDa 57507 ZNF608 -2.06 5.01E-06 zinc finger protein 608 2633 GBP1 -2.04 1.05E-04 guanylate binding protein 1, interferon-inducible 3626 INHBC -2.03 9.40E-05 inhibin, beta C 117153 MIA2 -2.02 2.07E-04 melanoma inhibitory activity 2 80833 APOL3 -2.01 1.86E-04 apolipoprotein L, 3 10068 IL18BP -1.97 4.50E-06 interleukin 18 binding protein 54809 SAMD9 -1.97 2.61E-05 sterile alpha motif domain containing 9 84873 GPR128 -1.97 4.02E-05 G protein-coupled receptor 128 5168 ENPP2 -1.97 4.50E-06 ectonucleotide pyrophosphatase/phosphodiesterase 2 5207 PFKFB1 -1.96 3.69E-04 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 10272 FSTL3 -1.96 6.80E-03 follistatin-like 3 (secreted glycoprotein) 6289 SAA2 -1.96 1.46E-03 serum amyloid A2 10561 IFI44 -1.95 2.40E-04 interferon-induced protein 44 420 ART4 -1.94 1.30E-04 ADP-ribosyltransferase 4 (Dombrock blood group) 219285 SAMD9L -1.94 7.48E-04 sterile alpha motif domain containing 9-like 4938 OAS1 -1.94 1.86E-04 2'-5'-oligoadenylate synthetase 1, 40/46kDa 80380 PDCD1LG2 -1.93 1.30E-03 programmed cell death 1 ligand 2 23586 DDX58 -1.93 8.22E-05 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 9636 ISG15 -1.92 8.26E-04 ISG15 ubiquitin-like modifier 4547 MTTP -1.91 1.65E-04 microsomal triglyceride transfer protein 343450 KCNT2 -1.90 6.93E-05 potassium channel, subfamily T, member 2 5288 PIK3C2G -1.90 2.58E-04 phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 2537 IFI6 -1.89 1.29E-05 interferon, alpha-inducible protein 6 1592 CYP26A1 -1.89 7.57E-04 cytochrome P450, family 26, subfamily A, polypeptide 1 342372 PKD1L3 -1.89 2.15E-03 polycystic kidney disease 1-like 3 353514 LILRA5 -1.87 1.46E-03 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 7042 TGFB2 -1.87 2.30E-06 transforming growth factor, beta 2 23767 FLRT3 -1.86 2.25E-04 fibronectin leucine rich transmembrane protein 3 83666 PARP9 -1.86 3.18E-05 poly (ADP-ribose) polymerase family, member 9 412 STS -1.85 4.62E-04 steroid sulfatase (microsomal), isozyme S 10677 AVIL -1.84 4.43E-04 advillin 83729 INHBE -1.84 6.47E-04 inhibin, beta E 163351 GBP6 -1.82 1.65E-02 guanylate binding protein family, member 6 2635 GBP3 -1.82 3.43E-04 guanylate binding protein 3 55008 HERC6 -1.81 3.76E-03 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 6274 S100A3 -1.81 4.79E-02 S100 calcium binding protein A3 55601 DDX60 -1.81 3.68E-04 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 114899 C1QTNF3 -1.80 2.75E-02 C1q and tumor necrosis factor related protein 3 27289 RND1 -1.79 1.56E-04 Rho family GTPase 1 952 CD38 -1.78 6.84E-04 CD38 molecule 9510 ADAMTS1 -1.78 2.41E-02 ADAM metallopeptidase with thrombospondin type 1 motif, 1 5737 PTGFR -1.78 7.03E-04 prostaglandin F receptor (FP) 51056 LAP3 -1.78 1.46E-03 leucine aminopeptidase 3 64108 RTP4 -1.77 1.33E-03 receptor (chemosensory) transporter protein 4 6363 CCL19 -1.77 5.33E-05 chemokine (C-C motif) ligand 19 4068 SH2D1A -1.77 1.20E-02 SH2 domain containing 1A 7127 TNFAIP2 -1.76 5.43E-03 tumor necrosis factor, alpha-induced protein 2 28951 TRIB2 -1.75 1.94E-03 tribbles pseudokinase 2 222643 UNC5CL -1.75 1.02E-03 unc-5 homolog C (C. elegans)-like 9076 CLDN1 -1.75 1.06E-06 claudin 1 6690 SPINK1 -1.74 3.81E-03 serine peptidase inhibitor, Kazal type 1 200373 PCDP1 -1.74 1.56E-03 primary ciliary dyskinesia protein 1 6352 CCL5 -1.74 6.93E-04 chemokine (C-C motif) ligand 5 8875 VNN2 -1.73 7.42E-04 vanin 2 11074 TRIM31 -1.73 6.09E-05 tripartite motif containing 31 8743 TNFSF10 -1.73 1.99E-06 tumor necrosis factor (ligand) superfamily, member 10 118932 ANKRD22 -1.73 8.29E-03 ankyrin repeat domain 22 3430 IFI35 -1.72 5.43E-03 interferon-induced protein 35 3560 IL2RB -1.72 2.29E-03 interleukin 2 receptor, beta 8470 SORBS2 -1.72 9.72E-04 sorbin and SH3 domain containing 2 60489 APOBEC3G -1.72 2.10E-02 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G 5698 PSMB9 -1.72 1.20E-03 proteasome (prosome, macropain) subunit, beta type, 9 7045 TGFBI -1.71 1.04E-04 transforming growth factor, beta-induced, 68kDa 2877 GPX2 -1.71 8.74E-03 glutathione peroxidase 2 (gastrointestinal) 51513 ETV7 -1.71 1.86E-02 ets variant 7 284111 SLC13A5 -1.71 4.83E-04 solute carrier family 13 (sodium-dependent citrate transporter), member 5 6288 SAA1 -1.71 3.91E-04 serum amyloid A1 5320 PLA2G2A -1.70 1.06E-03 phospholipase A2, group IIA (platelets, synovial fluid) 4212 MEIS2 -1.70 2.58E-04 Meis homeobox 2 64127 NOD2 -1.70 2.34E-02 nucleotide-binding oligomerization domain containing 2 6906 SERPINA7 -1.69 1.77E-03 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 64902 AGXT2 -1.69 1.93E-02 alanine--glyoxylate aminotransferase 2 6362 CCL18 -1.69 7.01E-04 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) 56521 DNAJC12 -1.69 2.28E-03 DnaJ (Hsp40) homolog, subfamily C, member 12 100423062 IGLL5 -1.69 4.02E-02 immunoglobulin lambda-like polypeptide 5 7274 TTPA -1.68 1.32E-02 tocopherol (alpha) transfer protein 29760 BLNK -1.68 2.88E-03 B-cell linker 6335 SCN9A -1.68 2.84E-03 sodium channel, voltage-gated, type IX, alpha subunit 126410 CYP4F22 -1.68 2.94E-03 cytochrome P450, family 4, subfamily F, polypeptide 22 126 ADH1C -1.67 3.50E-02 alcohol dehydrogenase 1C (class I), gamma polypeptide 10351 ABCA8 -1.67 1.30E-02 ATP-binding cassette, sub-family A (ABC1), member 8 3003 GZMK -1.66 6.15E-03 granzyme K (granzyme 3 /// tryptase II) 9971 NR1H4 -1.66 8.69E-05 nuclear receptor subfamily 1, group H, member 4 5629 PROX1 -1.66 3.84E-05 prospero homeobox 1 388403 YPEL2 -1.65 2.42E-04 yippee-like 2 (Drosophila) 84072 HORMAD1 -1.65 4.16E-02 HORMA domain containing 1 347051 SLC10A5 -1.65 8.97E-03 solute carrier family 10, member 5 6318 SERPINB4 -1.63 2.98E-02 serpin peptidase inhibitor, clade B (ovalbumin), member 4 5858 PZP -1.63 2.91E-03 pregnancy-zone protein 4982 TNFRSF11B -1.63 1.41E-03 tumor necrosis factor receptor superfamily, member 11b 3429 IFI27 -1.62 1.42E-03 interferon, alpha-inducible protein 27 2621 GAS6 -1.62 1.94E-03 growth arrest-specific 6 7447 VSNL1 -1.61 1.36E-03 visinin-like 1 834 CASP1 -1.61 2.46E-02 caspase 1, apoptosis-related cysteine peptidase 6366 CCL21 -1.60 1.76E-02 chemokine (C-C motif) ligand 21 6775 STAT4 -1.60 2.49E-03 signal transducer and activator of transcription 4 84171 LOXL4 -1.60 3.32E-02 lysyl oxidase-like 4 2212 FCGR2A -1.60 3.96E-03 Fc fragment of IgG, low affinity IIa, receptor (CD32) 10158 PDZK1IP1 -1.60 2.84E-02 PDZK1 interacting protein 1 4316 MMP7 -1.60 2.24E-02 matrix metallopeptidase 7 (matrilysin,
Recommended publications
  • Exceptional Conservation of Horse–Human Gene Order on X Chromosome Revealed by High-Resolution Radiation Hybrid Mapping
    Exceptional conservation of horse–human gene order on X chromosome revealed by high-resolution radiation hybrid mapping Terje Raudsepp*†, Eun-Joon Lee*†, Srinivas R. Kata‡, Candice Brinkmeyer*, James R. Mickelson§, Loren C. Skow*, James E. Womack‡, and Bhanu P. Chowdhary*¶ʈ *Department of Veterinary Anatomy and Public Health, ‡Department of Veterinary Pathobiology, College of Veterinary Medicine, and ¶Department of Animal Science, College of Agriculture and Life Science, Texas A&M University, College Station, TX 77843; and §Department of Veterinary Pathobiology, University of Minnesota, 295f AS͞VM, St. Paul, MN 55108 Contributed by James E. Womack, December 30, 2003 Development of a dense map of the horse genome is key to efforts ciated with the traits, once they are mapped by genetic linkage aimed at identifying genes controlling health, reproduction, and analyses with highly polymorphic markers. performance. We herein report a high-resolution gene map of the The X chromosome is the most conserved mammalian chro- horse (Equus caballus) X chromosome (ECAX) generated by devel- mosome (18, 19). Extensive comparisons of structure, organi- oping and typing 116 gene-specific and 12 short tandem repeat zation, and gene content of this chromosome in evolutionarily -markers on the 5,000-rad horse ؋ hamster whole-genome radia- diverse mammals have revealed a remarkable degree of conser tion hybrid panel and mapping 29 gene loci by fluorescence in situ vation (20–22). Until now, the chromosome has been best hybridization. The human X chromosome sequence was used as a studied in humans and mice, where the focus of research has template to select genes at 1-Mb intervals to develop equine been the intriguing patterns of X inactivation and the involve- orthologs.
    [Show full text]
  • Download.Cse.Ucsc.Edu/ Early Age of Onset (~2.5 Years) of This PRA Form in Goldenpath/Canfam2/Database/) Using Standard Settings
    Kropatsch et al. Canine Genetics and Epidemiology (2016) 3:7 DOI 10.1186/s40575-016-0037-x RESEARCH Open Access A large deletion in RPGR causes XLPRA in Weimaraner dogs Regina Kropatsch1*, Denis A. Akkad1, Matthias Frank2, Carsten Rosenhagen3, Janine Altmüller4,5, Peter Nürnberg4,6,7, Jörg T. Epplen1,8 and Gabriele Dekomien1 Abstract Background: Progressive retinal atrophy (PRA) belongs to a group of inherited retinal disorders associated with gradual vision impairment due to degeneration of retinal photoreceptors in various dog breeds. PRA is highly heterogeneous, with autosomal dominant, recessive or X-linked modes of inheritance. In this study we used exome sequencing to investigate the molecular genetic basis of a new type of PRA, which occurred spontaneously in a litter of German short-hair Weimaraner dogs. Results: Whole exome sequencing in two PRA-affected Weimaraner dogs identified a large deletion comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene known to be involved in human retinitis pigmentosa and canine PRA. Screening of 16 individuals in the corresponding pedigree of short-hair Weimaraners by qPCR, verified the deletion in hemizygous or heterozygous state in one male and six female dogs, respectively. The mutation was absent in 88 additional unrelated Weimaraners. The deletion was not detectable in the parents of one older female which transmitted the mutation to her offspring, indicating that the RPGR deletion represents a de novo mutation concerning only recent generations of the Weimaraner breed in Germany. Conclusion: Our results demonstrate the value of an existing DNA biobank combined with exome sequencing to identify the underlying genetic cause of a spontaneously occurring inherited disease.
    [Show full text]
  • ERAP2 Facilitates a Subpeptidome of Birdshot Uveitis-Associated HLA-A29
    bioRxiv preprint doi: https://doi.org/10.1101/2020.08.14.250654; this version posted August 14, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 1 Title: 2 ERAP2 facilitates a subpeptidome of Birdshot Uveitis-associated 3 HLA-A29 4 5 W.J. Venema 1,2, S. Hiddingh1,2 , J.H. de Boer 1, F.H.J. Claas 3, A Mulder3 , A.I. Den Hollander4 , 6 E. Stratikos 5, S. Sarkizova 6,7, G.M.C. Janssen 8, P.A. van Veelen 8, J.J.W. Kuiper 1,2* 7 8 1. Department of Ophthalmology, University Medical Center Utrecht, University of 9 Utrecht, Utrecht, Netherlands. 10 2. Center for Translational Immunology, University Medical Center Utrecht, University of 11 Utrecht, Utrecht, Netherlands. 12 3. Department of Immunology, Leiden University Medical Center, Leiden, the 13 Netherlands 14 4. Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, 15 Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 16 Netherlands. 17 5. National Centre for Scientific Research Demokritos, Agia Paraskevi 15341, Greece 18 6. Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. 19 7. Broad Institute of MIT and Harvard, Cambridge, MA, USA. 20 8. Center for Proteomics and Metabolomics, Leiden University Medical Center, Leiden, 21 the Netherlands. 22 23 * Corresponding author; email: [email protected] 24 25 ABSTRACT (words: 199): 26 27 Birdshot Uveitis (BU) is a blinding inflammatory eye condition that only affects 28 HLA-A29-positive individuals.
    [Show full text]
  • PARSANA-DISSERTATION-2020.Pdf
    DECIPHERING TRANSCRIPTIONAL PATTERNS OF GENE REGULATION: A COMPUTATIONAL APPROACH by Princy Parsana A dissertation submitted to The Johns Hopkins University in conformity with the requirements for the degree of Doctor of Philosophy Baltimore, Maryland July, 2020 © 2020 Princy Parsana All rights reserved Abstract With rapid advancements in sequencing technology, we now have the ability to sequence the entire human genome, and to quantify expression of tens of thousands of genes from hundreds of individuals. This provides an extraordinary opportunity to learn phenotype relevant genomic patterns that can improve our understanding of molecular and cellular processes underlying a trait. The high dimensional nature of genomic data presents a range of computational and statistical challenges. This dissertation presents a compilation of projects that were driven by the motivation to efficiently capture gene regulatory patterns in the human transcriptome, while addressing statistical and computational challenges that accompany this data. We attempt to address two major difficulties in this domain: a) artifacts and noise in transcriptomic data, andb) limited statistical power. First, we present our work on investigating the effect of artifactual variation in gene expression data and its impact on trans-eQTL discovery. Here we performed an in-depth analysis of diverse pre-recorded covariates and latent confounders to understand their contribution to heterogeneity in gene expression measurements. Next, we discovered 673 trans-eQTLs across 16 human tissues using v6 data from the Genotype Tissue Expression (GTEx) project. Finally, we characterized two trait-associated trans-eQTLs; one in Skeletal Muscle and another in Thyroid. Second, we present a principal component based residualization method to correct gene expression measurements prior to reconstruction of co-expression networks.
    [Show full text]
  • Gene Expression Polarization
    Transcriptional Profiling of the Human Monocyte-to-Macrophage Differentiation and Polarization: New Molecules and Patterns of Gene Expression This information is current as of September 27, 2021. Fernando O. Martinez, Siamon Gordon, Massimo Locati and Alberto Mantovani J Immunol 2006; 177:7303-7311; ; doi: 10.4049/jimmunol.177.10.7303 http://www.jimmunol.org/content/177/10/7303 Downloaded from Supplementary http://www.jimmunol.org/content/suppl/2006/11/03/177.10.7303.DC1 Material http://www.jimmunol.org/ References This article cites 61 articles, 22 of which you can access for free at: http://www.jimmunol.org/content/177/10/7303.full#ref-list-1 Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision by guest on September 27, 2021 • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2006 by The American Association of Immunologists All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology Transcriptional Profiling of the Human Monocyte-to-Macrophage Differentiation and Polarization: New Molecules and Patterns of Gene Expression1 Fernando O.
    [Show full text]
  • Snapshot: Formins Christian Baarlink, Dominique Brandt, and Robert Grosse University of Marburg, Marburg 35032, Germany
    SnapShot: Formins Christian Baarlink, Dominique Brandt, and Robert Grosse University of Marburg, Marburg 35032, Germany Formin Regulators Localization Cellular Function Disease Association DIAPH1/DIA1 RhoA, RhoC Cell cortex, Polarized cell migration, microtubule stabilization, Autosomal-dominant nonsyndromic deafness (DFNA1), myeloproliferative (mDia1) phagocytic cup, phagocytosis, axon elongation defects, defects in T lymphocyte traffi cking and proliferation, tumor cell mitotic spindle invasion, defects in natural killer lymphocyte function DIAPH2 Cdc42 Kinetochore Stable microtubule attachment to kinetochore for Premature ovarian failure (mDia3) chromosome alignment DIAPH3 Rif, Cdc42, Filopodia, Filopodia formation, removing the nucleus from Increased chromosomal deletion of gene locus in metastatic tumors (mDia2) Rac, RhoB, endosomes erythroblast, endosome motility, microtubule DIP* stabilization FMNL1 (FRLα) Cdc42 Cell cortex, Phagocytosis, T cell polarity Overexpression is linked to leukemia and non-Hodgkin lymphoma microtubule- organizing center FMNL2/FRL3/ RhoC ND Cell motility Upregulated in metastatic colorectal cancer, chromosomal deletion is FHOD2 associated with mental retardation FMNL3/FRL2 Constituently Stress fi bers ND ND active DAAM1 Dishevelled Cell cortex Planar cell polarity ND DAAM2 ND ND ND Overexpressed in schizophrenia patients Human (Mouse) FHOD1 ROCK Stress fi bers Cell motility FHOD3 ND Nestin, sarcomere Organizing sarcomeres in striated muscle cells Single-nucleotide polymorphisms associated with type 1 diabetes
    [Show full text]
  • How Macrophages Deal with Death
    REVIEWS CELL DEATH AND IMMUNITY How macrophages deal with death Greg Lemke Abstract | Tissue macrophages rapidly recognize and engulf apoptotic cells. These events require the display of so- called eat-me signals on the apoptotic cell surface, the most fundamental of which is phosphatidylserine (PtdSer). Externalization of this phospholipid is catalysed by scramblase enzymes, several of which are activated by caspase cleavage. PtdSer is detected both by macrophage receptors that bind to this phospholipid directly and by receptors that bind to a soluble bridging protein that is independently bound to PtdSer. Prominent among the latter receptors are the MER and AXL receptor tyrosine kinases. Eat-me signals also trigger macrophages to engulf virus- infected or metabolically traumatized, but still living, cells, and this ‘murder by phagocytosis’ may be a common phenomenon. Finally , the localized presentation of PtdSer and other eat- me signals on delimited cell surface domains may enable the phagocytic pruning of these ‘locally dead’ domains by macrophages, most notably by microglia of the central nervous system. In long- lived organisms, abundant cell types are often process. Efferocytosis is a remarkably efficient business: short- lived. In the human body, for example, the macrophages can engulf apoptotic cells in less than lifespan of many white blood cells — including neutro- 10 minutes, and it is therefore difficult experimentally to phils, eosinophils and platelets — is less than 2 weeks. detect free apoptotic cells in vivo, even in tissues where For normal healthy humans, a direct consequence of large numbers are generated7. Many of the molecules this turnover is the routine generation of more than that macrophages and other phagocytes use to recognize 100 billion dead cells each and every day of life1,2.
    [Show full text]
  • Implicating Gene and Cell Networks Responsible for Differential COVID
    bioRxiv preprint doi: https://doi.org/10.1101/2021.06.07.447287; this version posted June 16, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC 4.0 International license. 1 Implicating Gene and Cell Networks Responsible for 2 Differential COVID-19 Host Responses via an Interactive 3 Single Cell Web Portal 4 5 Kang Jin1,2, Eric E. Bardes1, Alexis Mitelpunkt1,3,4, Jake Y. Wang1, Surbhi Bhatnagar1,5, 6 Soma Sengupta6, Daniel Pomeranz Krummel6, Marc E. Rothenberg7, Bruce J. 7 Aronow1,8,9,* 8 9 1Division oF Biomedical InFormatics, Cincinnati Children's Hospital Medical Center, 10 Cincinnati, OH, 45229, USA 11 2Department oF Biomedical InFormatics, University oF Cincinnati, Cincinnati, OH, 45229, 12 USA 13 3Pediatric Rehabilitation, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, Tel 14 Aviv, 6423906, Israel 15 4Sackler Faculty oF Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel 16 5Department oF Electrical Engineering and Computer Science, University oF Cincinnati, 17 Cincinnati, OH, 45221, USA 18 6Department oF Neurology and Rehabilitation Medicine, University oF Cincinnati College 19 oF Medicine, Cincinnati, OH, 45267, USA. 20 7Division oF Allergy and Immunology, Department oF Pediatrics, Cincinnati Children's 21 Hospital Medical Center, University oF Cincinnati, Cincinnati, OH, 45229, USA 22 8Department oF Pediatrics, University oF Cincinnati School oF Medicine, Cincinnati, OH, 23 45256, USA 24 9Lead contact 25 *Correspondence: [email protected] (B.A.) 26 27 28 29 30 31 1 bioRxiv preprint doi: https://doi.org/10.1101/2021.06.07.447287; this version posted June 16, 2021.
    [Show full text]
  • Structural and Functional Characterization of TMEM16 Family Members
    Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2016 Structural and functional characterization of TMEM16 family members Lim, Novandy Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-129639 Dissertation Published Version Originally published at: Lim, Novandy. Structural and functional characterization of TMEM16 family members. 2016, University of Zurich, Faculty of Science. Structural and Functional Characterization of TMEM16 Family Members Dissertation zur Erlangung der naturwissenschaftlichen Doktorwürde (Dr. sc. nat.) vorgelegt der Mathematisch-naturwissenschaftlichen Fakultät der Universität Zürich von Novandy Karunia Lim aus Indonesien Promotionskomitee Prof. Dr. Raimund Dutzler (Vorsitz) Prof. Dr. Markus Seeger Prof. Dr. Martin Jinek Zürich, 2016 Acknowledgements I would like to take this opportunity to thank all the people who have supported and helped me throughout my stay and project in the lab. Firstly, I would like to thank Prof. Raimund Dutzler for the opportunity to work on this highly exciting project. I am sincerely grateful for his constant support and his faith in me throughout my time in his group. I would like to thank Prof. Martin Jinek and Prof. Markus Seeger for being part of my thesis committee. I would like to thank Janine Brunner and Stephan Schenck for the helpful discussion on TMEM16 project. A big thank you to Alessia Dürst too for helping us with the homologue screen during her Masters thesis. I am grateful to all the past and present members of the Dutzler for their friendship, support and scientific discussions.
    [Show full text]
  • ARID5B As a Critical Downstream Target of the TAL1 Complex That Activates the Oncogenic Transcriptional Program and Promotes T-Cell Leukemogenesis
    Downloaded from genesdev.cshlp.org on October 10, 2021 - Published by Cold Spring Harbor Laboratory Press ARID5B as a critical downstream target of the TAL1 complex that activates the oncogenic transcriptional program and promotes T-cell leukemogenesis Wei Zhong Leong,1 Shi Hao Tan,1 Phuong Cao Thi Ngoc,1 Stella Amanda,1 Alice Wei Yee Yam,1 Wei-Siang Liau,1 Zhiyuan Gong,2 Lee N. Lawton,1 Daniel G. Tenen,1,3,4 and Takaomi Sanda1,4 1Cancer Science Institute of Singapore, National University of Singapore, 117599 Singapore; 2Department of Biological Sciences, National University of Singapore, 117543 Singapore; 3Harvard Medical School, Boston, Massachusetts 02215, USA; 4Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, 117599 Singapore The oncogenic transcription factor TAL1/SCL induces an aberrant transcriptional program in T-cell acute lym- phoblastic leukemia (T-ALL) cells. However, the critical factors that are directly activated by TAL1 and contribute to T-ALL pathogenesis are largely unknown. Here, we identified AT-rich interactive domain 5B (ARID5B) as a col- laborating oncogenic factor involved in the transcriptional program in T-ALL. ARID5B expression is down-regulated at the double-negative 2–4 stages in normal thymocytes, while it is induced by the TAL1 complex in human T-ALL cells. The enhancer located 135 kb upstream of the ARID5B gene locus is activated under a superenhancer in T-ALL cells but not in normal T cells. Notably, ARID5B-bound regions are associated predominantly with active tran- scription. ARID5B and TAL1 frequently co-occupy target genes and coordinately control their expression.
    [Show full text]
  • Complement Component 4 Genes Contribute Sex-Specific Vulnerability in Diverse Illnesses
    bioRxiv preprint doi: https://doi.org/10.1101/761718; this version posted September 9, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-ND 4.0 International license. Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses Nolan Kamitaki1,2, Aswin Sekar1,2, Robert E. Handsaker1,2, Heather de Rivera1,2, Katherine Tooley1,2, David L. Morris3, Kimberly E. Taylor4, Christopher W. Whelan1,2, Philip Tombleson3, Loes M. Olde Loohuis5,6, Schizophrenia Working Group of the Psychiatric Genomics Consortium7, Michael Boehnke8, Robert P. Kimberly9, Kenneth M. Kaufman10, John B. Harley10, Carl D. Langefeld11, Christine E. Seidman1,12,13, Michele T. Pato14, Carlos N. Pato14, Roel A. Ophoff5,6, Robert R. Graham15, Lindsey A. Criswell4, Timothy J. Vyse3, Steven A. McCarroll1,2 1 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA 2 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA 3 Department of Medical and Molecular Genetics, King’s College London, London WC2R 2LS, UK 4 Rosalind Russell / Ephraim P Engleman Rheumatology Research Center, Division of Rheumatology, UCSF School of Medicine, San Francisco, California 94143, USA 5 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA 6 Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90095, USA 7 A full list of collaborators is in Supplementary Information.
    [Show full text]
  • The Genetic Basis of Hyaline Fibromatosis Syndrome in Patients from a Consanguineous Background: a Case Series
    Youssefian et al. BMC Medical Genetics (2018) 19:87 https://doi.org/10.1186/s12881-018-0581-1 CASE REPORT Open Access The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series Leila Youssefian1,4†, Hassan Vahidnezhad1,2†, Andrew Touati1,3†, Vahid Ziaee5†, Amir Hossein Saeidian1, Sara Pajouhanfar1, Sirous Zeinali2,6 and Jouni Uitto1* Abstract Background: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene. Case presentation: In this report, we describe four cases of HFS from consanguineous backgrounds. Genetic analysis identified a novel homozygous frameshift deletion c.969del (p.Ile323Metfs*14) in one case, the previously reported mutation c.134 T > C (p.Leu45Pro) in another case, and the recurrent homozygous frameshift mutation c.1073dup (p.Ala359Cysfs*13) in two cases. The epidemiology of this latter mutation is of particular interest, as it is a candidate for inhibition of nonsense-mediated mRNA decay. Haplotype analysis was performed to determine the origin of this mutation in this consanguineous cohort, which suggested that it may develop sporadically in different populations. Conclusions: This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.
    [Show full text]