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Steffensen Et Al. Supplement 2A

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Liver Wild-type Knockout 1 2 4 1 2 4 1 1 1 C C C C C C W W W K K K IMAGE:640919 expressed sequence AA960558 IMAGE:523974 RIKEN cDNA 1810004N01 gene IMAGE:1211217 eukaryotic translation initiation factor 4E binding protein 2 IMAGE:314741 beta-site APP cleaving enzyme IMAGE:1038420 silica-induced gene 41 IMAGE:1229655 soc-2 suppressor of clear homolog C. elegans IMAGE:1150065 Unknown IMAGE:1038486 RIKEN cDNA 2700038M07 gene IMAGE:524351 amyloid beta A4 precursor protein IMAGE:819912 thymus expressed acidic protein IMAGE:779426 RIKEN cDNA 5230400G24 gene IMAGE:945643 ESTs IMAGE:850544 Mpv17 transgene, kidney disease mutant IMAGE:537568 expressed sequence AA675315 IMAGE:1107584 yes-associated protein, 65 kDa IMAGE:961363 expressed sequence AU015422 IMAGE:775218 expressed sequence AI265322 IMAGE:792656 protein phosphatase 1B, magnesium dependent, beta isoform IMAGE:1038592 ESTs, Weakly similar to A43932 mucin 2 precursor, intestinal [H.sapiens] IMAGE:1224917 huntingtin interacting protein 2 IMAGE:751186 ESTs IMAGE:865151 Trk-fused gene IMAGE:523016 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 IMAGE:765039 FBJ osteosarcoma oncogene B IMAGE:1003995 expressed sequence AI844632 IMAGE:903863 RIKEN cDNA 1300006L01 gene IMAGE:934094 ESTs IMAGE:988962 expressed sequence C77245 IMAGE:1023308 ESTs, Weakly similar to S71512 hypothetical protein T2 - mouse [M.musculus] IMAGE:865317 eukaryotic translation initiation factor 3 IMAGE:720445 ribosomal protein S6 IMAGE:1005417 expressed sequence AU024550 IMAGE:1005648 matrin 3 IMAGE:643076 ESTs IMAGE:960834 Unknown IMAGE:934141 Unknown IMAGE:1137337 EST IMAGE:1038353 DNA segment, Chr 10, Brigham & Women’s Genetics 1070 expressed IMAGE:791160 constitutive photomorphogenic protein 1 Arabidopsis IMAGE:517558 expressed sequence AI042849 IMAGE:539269 chromodomain helicase DNA binding protein 1 IMAGE:577555 Mus musculus, clone IMAGE:4924122, mRNA IMAGE:517242 stromal cell derived factor 1 IMAGE:988878 expressed sequence AW123102 IMAGE:907725 Mus musculus, clone MGC:6545 IMAGE:2655444, mRNA, complete cds IMAGE:976884 Tal1 interrupting locus IMAGE:2102253 DNA segment, Chr 8, ERATO Doi 69, expressed IMAGE:1040536 RIKEN cDNA 5830428H23 gene IMAGE:659865 ESTs IMAGE:819822 RIKEN cDNA 2610209F03 gene IMAGE:908545 expressed sequence AA960202 IMAGE:791154 ESTs IMAGE:793166 RIKEN cDNA 6720463E02 gene IMAGE:2101209 Mus musculus, clone MGC:7992 IMAGE:3585699, mRNA, complete cds IMAGE:849840 myocyte enhancer factor 2A IMAGE:821353 expressed sequence AW045245 IMAGE:976746 ubiquitin-conjugating enzyme E2D 2 IMAGE:792995 ADP-ribosylation-like 4 IMAGE:1261036 expressed sequence AA675315 IMAGE:779593 expressed sequence AI507382 IMAGE:1022269 DNA segment, Chr 2, ERATO Doi 612, expressed IMAGE:860272 ESTs IMAGE:934477 RIKEN cDNA 2610103J23 gene IMAGE:537162 casein kinase 1, delta IMAGE:1134484 Mus musculus, clone IMAGE:3979323, mRNA IMAGE:316763 Fc receptor, IgE, high affinity I, gamma polypeptide IMAGE:1262354 WW domain binding protein 2 IMAGE:991138 protein phosphatase 2a, catalytic subunit, beta isoform IMAGE:1228255 decorin IMAGE:1209311 Unknown IMAGE:977016 RIKEN cDNA 2310021H13 gene IMAGE:865220 RAD53 homolog S.cerevisiae IMAGE:1224492 chondroitin sulfate proteoglycan 2 IMAGE:1228163 Unknown IMAGE:1617134 brain protein 14 IMAGE:1067990 ESTs, Weakly similar to S26689 hypothetical protein hc1 - mouse [M.musculus] IMAGE:1224339 expressed sequence AU024130 IMAGE:536961 kelch-like 2, Mayven Drosophila IMAGE:1003630 protein kinase, cAMP dependent, catalytic, beta IMAGE:680424 cytochrome P450, 39a1 oxysterol 7alpha-hydroxylase IMAGE:793043 expressed sequence AU020252 IMAGE:934277 ESTs, Weakly similar to T12543 hypothetical protein DKFZp434M154.1 [H.sapiens] IMAGE:1002689 Mus musculus pigpen protein mRNA, complete cds IMAGE:775297 ESTs, Weakly similar to JAK3 MOUSE TYROSINE-PROTEIN KINASE JAK3 [M.musculus] IMAGE:616653 interferon-induced protein with tetratricopeptide repeats 1 IMAGE:962922 RIKEN cDNA 2410127L17 gene IMAGE:517989 Mus musculus, Similar to hypothetical protein FLJ20505, clone MGC:7150 IMAGE:3256634, mRNA, complete cds IMAGE:793204 ESTs IMAGE:805206 sorting nexin 5 IMAGE:717127 ESTs IMAGE:1003019 ESTs IMAGE:679056 cyclin-dependent kinase-like 2 CDC2-related kinase IMAGE:933943 expressed sequence AW107953 IMAGE:1617508 ESTs IMAGE:961136 ESTs IMAGE:643707 expressed sequence AI450192 IMAGE:1764536 signal transducing adaptor molecule SH3 domain and ITAM motif 1 IMAGE:621117 Ngfi-A binding protein 1 IMAGE:677565 kinesin family member 21A IMAGE:1065901 RIKEN cDNA 2610028H07 gene IMAGE:1022988 ESTs, Weakly similar to NED4 MOUSE NEDD-4 PROTEIN [M.musculus] IMAGE:1383538 RIKEN cDNA 4733401A01 gene IMAGE:718711 ESTs IMAGE:642987 ESTs IMAGE:621941 ESTs, Weakly similar to T00084 hypothetical protein KIAA0512 [H.sapiens] IMAGE:532139 sideroflexin 1 IMAGE:865159 reticulon 3 IMAGE:1148464 Unknown IMAGE:636564 ESTs IMAGE:1051191 Unknown IMAGE:779928 emerin IMAGE:1153147 expressed sequence AA517451 IMAGE:1137835 ESTs, Moderately similar to S12207 hypothetical protein [M.musculus] IMAGE:1139347 RIKEN cDNA 4631416G20 gene IMAGE:572363 ESTs IMAGE:1050872 expressed sequence AA589446 IMAGE:1037864 Unknown IMAGE:1037819 ESTs IMAGE:1383601 suppressor of initiator codon mutations, related sequence 1 S. cerevisiae IMAGE:1150564 zinc finger protein 288 IMAGE:749522 ESTs IMAGE:1193602 expressed sequence AI447901 IMAGE:960032 expressed sequence AW558785 IMAGE:976844 DNA segment, Chr 19, Wayne State University 55, expressed IMAGE:539308 Unknown IMAGE:1383835 ESTs, Moderately similar to S39543 GTP-binding protein - mouse [M.musculus] IMAGE:803834 casein kinase II, alpha 1 related sequence 4 IMAGE:751784 expressed sequence AI838773 IMAGE:988782 ESTs IMAGE:642682 expressed sequence AW123198 IMAGE:1038540 ESTs, Moderately similar to B54037 splicing regulatory protein SWAP homolog [H.sapiens] IMAGE:538685 RIKEN cDNA 1500010B24 gene IMAGE:1134624 expressed sequence C85125 IMAGE:1037871 polyrC binding protein 2 IMAGE:1037608 Unknown IMAGE:374302 lysosomal-associated protein transmembrane 4A IMAGE:518951 RIKEN cDNA 3110001D03 gene IMAGE:1245262 ESTs IMAGE:1004406 DnaJ Hsp40 homolog, subfamily B, member 9 IMAGE:833695 zinc finger protein 162 IMAGE:1230170 expressed sequence AU040217 IMAGE:537100 epidermal growth factor receptor pathway substrate 15 IMAGE:524776 purine rich element binding protein A IMAGE:350145 Kruppel-like factor 7 ubiquitous IMAGE:519143 ESTs, Weakly similar to T19071 hypothetical protein C08B11.8 - Caenorhabditis elegans [C.elegans] IMAGE:851551 RAB18, member RAS oncogene family IMAGE:634652 zinc finger protein X-linked IMAGE:1248296 expressed sequence AA959758 IMAGE:1040610 RIKEN cDNA 2810441M03 gene IMAGE:318275 budding uninhibited by benzimidazoles 3 homolog S. cerevisiae IMAGE:779706 expressed sequence AA414968 IMAGE:934627 RIKEN cDNA 1110002B05 gene IMAGE:621166 ectonucleotide pyrophosphatase/phosphodiesterase 2 IMAGE:1328202 RIKEN cDNA 2210413N07 gene IMAGE:1003405 CDC-like kinase IMAGE:976489 cyclin I IMAGE:680455 proprotein convertase subtilisin/kexin type 3 IMAGE:805401 ubiquitin-activating enzyme E1C IMAGE:719786 Unknown IMAGE:539834 RIKEN cDNA 2310003C10 gene IMAGE:934745 nucleosome binding protein 1 IMAGE:959783 expressed sequence AI505894 IMAGE:976585 RIKEN cDNA 4930518I15 gene IMAGE:1004486 CUG triplet repeat, RNA binding protein 1 IMAGE:1038497 sorting nexin 4 IMAGE:570573 expressed sequence AI428776 IMAGE:834128 expressed sequence AA407240 IMAGE:1003927 DNA segment, Chr 9, ERATO Doi 85, expressed IMAGE:752234 RIKEN cDNA 1110059H15 gene IMAGE:1196895 RIKEN cDNA 1110059P08 gene IMAGE:638129 expressed sequence AI452146 IMAGE:1226212 Unknown IMAGE:1165343 DNA segment, Chr 3, ERATO Doi 330, expressed IMAGE:619438 ubiquitin protein ligase E3 component n-recognin 1 IMAGE:522945 RIKEN cDNA 1200006O19 gene IMAGE:1164601 ESTs, Highly similar to S12207 hypothetical protein [M.musculus] IMAGE:723201 hepatoma-derived growth factor, related protein 3 IMAGE:723159 ESTs IMAGE:636435 Unknown IMAGE:517326 quaking IMAGE:426596 RIKEN cDNA 4930558H15 gene IMAGE:791266 nuclear RNA export factor 1 homolog S. cerevisiae IMAGE:643537 integrin-associated protein IMAGE:524562 syndecan binding protein IMAGE:387840 peroxiredoxin 2 IMAGE:535025 DNA segment, Chr 10, University of California at Los Angeles 1 IMAGE:1227243 peroxiredoxin 2 IMAGE:1243201 clathrin, light polypeptide Lcb IMAGE:596534 cathepsin S IMAGE:1038416 tropomyosin 3, gamma IMAGE:1193028 Mus musculus, Similar to TAK1-binding protein 2; KIAA0733 protein, clone MGC:8010 IMAGE:3586132, mRNA, complete cds IMAGE:350310 RAR-related orphan receptor alpha IMAGE:976761 RIKEN cDNA 4430402G14 gene IMAGE:658891 Wnt inhibitory factor 1 IMAGE:313842 ESTs IMAGE:720884 ESTs, Weakly similar to T25148 hypothetical protein VT23B5.2 - Caenorhabditis elegans [C.elegans] IMAGE:751663 RIKEN cDNA 2010203O03 gene IMAGE:642577 B-cell leukemia/lymphoma 2 related protein A1b IMAGE:1037547 RIKEN cDNA 1300003P13 gene IMAGE:1005899 actin-like IMAGE:959635 calpain 10 IMAGE:1227154 proteasome prosome, macropain subunit, alpha type 3 IMAGE:1193024 transcriptional regulator, SIN3B yeast IMAGE:1037829 Unknown IMAGE:1005368 RIKEN cDNA 0610037M02 gene IMAGE:933700 cellular repressor of E1A-stimulated genes IMAGE:1003885 phosphoribosyl pyrophosphate synthetase 1 IMAGE:988801 eukaryotic translation initiation factor 4A2 IMAGE:536865 adenylosuccinate synthetase 2, non muscle IMAGE:1091786 cytochrome P450, steroid inducible 3a11 IMAGE:778523 adaptor-related protein
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  • Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome

    Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome

    BASIC RESEARCH www.jasn.org Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome † † † ‡ † Fengxiao Bu,* Tara Maga,* Nicole C. Meyer, Kai Wang, Christie P. Thomas, § † † Carla M. Nester, § and Richard J. H. Smith* § *Interdisciplinary PhD Program in Genetics, †Molecular Otolaryngology and Renal Research Laboratories, ‡Department of Biostatistics, College of Public Health, and §Rare Renal Disease Clinic, Departments of Pediatrics and Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa ABSTRACT Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by uncontrolled activation of the alternative pathway of complement at the cell surface level that leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. In approximately one half of affected patients, pathogenic loss-of-function variants in regulators of complement or gain-of-function variants in effectors of complement are identified, clearly implicating complement in aHUS. However, there are strong lines of evidence supporting the presence of additional genetic contributions to this disease. To identify novel aHUS-associated genes, we completed a comprehensive screen of the complement and coagulation pathways in 36 patients with sporadic aHUS using targeted genomic enrichment and mas- sively parallel sequencing. After variant calling, quality control, and hard filtering, we identified 84 reported or novel nonsynonymous variants, 22 of which have been previously associated with disease. Using computational prediction methods, 20 of the remaining 62 variants were predicted to be dele- terious. Consistent with published data, nearly one half of these 42 variants (19; 45%) were found in genes implicated in the pathogenesis of aHUS. Several genes in the coagulation pathway were also identified as important in the pathogenesis of aHUS.
  • Smac Mimetic Induces Cell Death in a Large Proportion of Primary Acute Myeloid Leukemia Samples, Which Correlates with Defined Molecular Markers

    Smac Mimetic Induces Cell Death in a Large Proportion of Primary Acute Myeloid Leukemia Samples, Which Correlates with Defined Molecular Markers

    www.impactjournals.com/oncotarget/ Oncotarget, Vol. 7, No. 31 Research Paper Smac mimetic induces cell death in a large proportion of primary acute myeloid leukemia samples, which correlates with defined molecular markers Sonja C. Lueck1, Annika C. Russ1, Ursula Botzenhardt1, Richard F. Schlenk1, Kerry Zobel2, Kurt Deshayes2, Domagoj Vucic2, Hartmut Döhner1, Konstanze Döhner1, Simone Fulda3,4,5,*, Lars Bullinger1,* 1Department of Internal Medicine III, University Hospital Ulm, Ulm, Germany 2Early Discovery Biochemistry, Genentech, Inc., South San Francisco, CA, USA 3Institute for Experimental Cancer Research in Pediatrics, Goethe-University, Germany 4German Cancer Consortium (DKTK), Heidelberg, Germany 5German Cancer Research Center (DKFZ), Heidelberg, Germany *Shared senior authorship Correspondence to: Lars Bullinger, email: [email protected] Simone Fulda, email: [email protected] Keywords: smac mimetic, IAP proteins, apoptosis, acute myeloid leukemia (AML), gene expression profiling (GEP) Received: March 31, 2016 Accepted: June 13, 2016 Published: July 02, 2016 ABSTRACT Apoptosis is deregulated in most, if not all, cancers, including hematological malignancies. Smac mimetics that antagonize Inhibitor of Apoptosis (IAP) proteins have so far largely been investigated in acute myeloid leukemia (AML) cell lines; however, little is yet known on the therapeutic potential of Smac mimetics in primary AML samples. In this study, we therefore investigated the antileukemic activity of the Smac mimetic BV6 in diagnostic samples of 67 adult AML patients and correlated the response to clinical, cytogenetic and molecular markers and gene expression profiles. Treatment with cytarabine (ara-C) was used as a standard chemotherapeutic agent. Interestingly, about half (51%) of primary AML samples are sensitive to BV6 and 21% intermediate responsive, while 28% are resistant.