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Liver Wild-type Knockout C T C T 1 2 4 7 8 9 1 2 4 5 7 9 1 1 1 1 1 1 C C C T T T C C C T T T W W W W W W K K K K K K IMAGE:793166 RIKEN cDNA 6720463E02 gene IMAGE:1447421 ESTs, Weakly similar to ZF37 MOUSE ZINC FINGER PROTEIN 37 [M.musculus] IMAGE:934291 RIKEN cDNA 2810418N01 gene IMAGE:1247525 small EDRK-rich f2actor IMAGE:1449402 expressed sequence AW321064 IMAGE:1279847 ESTs IMAGE:518737 expressed sequence AW049941 IMAGE:860231 a disintegrin and metalloproteinase domain 17 IMAGE:642836 CD86 antigen IMAGE:1003885 phosphoribosyl pyrophosphate sy1nthetase IMAGE:524862 RIKEN cDNA 5730469D23 gene IMAGE:1264473 protein inhibitor of activat1ed STAT IMAGE:847035 RIKEN cDNA 4833422F06 gene IMAGE:374550 requiem IMAGE:976520 nuclear receptor coact4ivator IMAGE:1264311 Unknown IMAGE:976735 expressed sequence AI987692 IMAGE:976659 cathepsLin IMAGE:1477580 RIKEN cDNA 1600010J02 gene IMAGE:1277168 ribosomal protein, large, P1 IMAGE:524842 RIKEN cDNA 0710008D09 gene IMAGE:373019 split hand/foot delete1d gene IMAGE:404428 expressed sequence AI413851 IMAGE:619810 RIKEN cDNA 1700003F10 gene IMAGE:1749558 caspase 3, apoptosis related cysteine protease IMAGE:718718 RIKEN cDNA 2810003F23 gene IMAGE:819789 Unknown IMAGE:524474 ATP-binding cassette, sub-family A ABC1, member IMAGE:804950 Mus musculus, Similar to ribosomal protein S20, clone MGC:6876 IMAGE:2651405, mRNA, complete cds IMAGE:806143 gap junction membrane channel prot2ein beta IMAGE:1745887 expressed sequence AI836376 IMAGE:779426 RIKEN cDNA 5230400G24 gene IMAGE:1125615 Unknown IMAGE:535025 DNA segment, Chr 10, University of California at 1Los Angeles IMAGE:540395 proteasome prosome, macropain subunit, a6lpha type IMAGE:792016 Down syndrome critical regiocn gene IMAGE:536637 Unknown IMAGE:1259879 programmed cell 6death IMAGE:793037 ribosomal protein S5 IMAGE:1038936 ribosomal protein S7 IMAGE:988801 eukaryotic translation initiation factor 4A2 IMAGE:539903 E4F transcription f1actor IMAGE:403969 ribosomal protein L7 IMAGE:1276747 Unknown IMAGE:1066664 phosphodiesterase 8A IMAGE:902529 RIKEN cDNA 0910001K20 gene IMAGE:515271 ESTs IMAGE:865071 serine/arginine repetitive 1matrix IMAGE:387840 peroxiredo2xin IMAGE:1227243 peroxiredo2xin IMAGE:1004953 proteasome prosome, macropain subunit, 4beta type IMAGE:1209161 ribosomal protein L10A IMAGE:1125498 torsin family 1, mBember IMAGE:1193024 transcriptional regulator, SIN3B yeast IMAGE:538685 RIKEN cDNA 1500010B24 gene IMAGE:1037871 polyrC binding pr2otein IMAGE:1037829 Unknown IMAGE:517398 expressed sequence C79540 IMAGE:539693 transcription factor A, mitochondrial IMAGE:806050 expressed sequence N28169 IMAGE:1037547 RIKEN cDNA 1300003P13 gene IMAGE:523992 Unknown IMAGE:1005368 RIKEN cDNA 0610037M02 gene IMAGE:865319 RIKEN cDNA 4733401P19 gene IMAGE:791361 RIKEN cDNA 2610025M23 gene IMAGE:596277 zinc finger protein 103 IMAGE:1038497 sorting ne4xin IMAGE:1106517 Unknown IMAGE:536865 adenylosuccinate synthetase 2, non muscle IMAGE:540910 ESTs IMAGE:765554 catenin cadherin-associated protein, delta 2 neural plakophilin-related arm-repeat protein IMAGE:318345 ribosomal protein L12 IMAGE:523285 myotubularin related p1rotein IMAGE:335326 amelogenin IMAGE:524176 carbohydrate sulfotrans2ferase IMAGE:535262 expressed sequence C87006 IMAGE:865421 RIKEN cDNA 1110021D01 gene IMAGE:1382673 eukaryotic translation initiation factor 3, subunit 2 beta, 36kD IMAGE:963268 mannose-P-dolichol utilization1 defect IMAGE:1005605 ESTs, Weakly similar to AF069992 1 LIM domain interacting RING finger protein [M.musculus] IMAGE:822470 ethanol indu6ced IMAGE:976890 isocitrate dehydrogenase 2 NADP+, mitochondrial IMAGE:515500 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c sub1unit 9, isoform IMAGE:535906 5, 10-methenyltetrahydrofolate synthetase IMAGE:550898 proteasome prosome, macropain subunit, a7lpha type IMAGE:1004778 Unknown IMAGE:977312 spastic paraplegia 4 homolog human IMAGE:658891 Wnt inhibitory fa1ctor IMAGE:1004045 RIKEN cDNA 1110036B12 gene IMAGE:520661 phosphatidylinositol 3-kinase, C2 domain containing, gamma polypeptide IMAGE:1281405 vascular endothelial zinc 1finger IMAGE:778524 RIKEN cDNA 5930415H02 gene IMAGE:524664 palate, lung, and nasal epithelium expressed transcript IMAGE:872984 RIKEN cDNA 2700038I16 gene IMAGE:653189 RIKEN cDNA 1300018J18 gene IMAGE:778523 adaptor-related protein complex 2, beta 1 subunit IMAGE:976761 RIKEN cDNA 4430402G14 gene IMAGE:1005899 actin-like IMAGE:1222999 thioredo1xin IMAGE:1261464 RIKEN cDNA 3110001O07 gene IMAGE:644118 CD163 antigen IMAGE:1149166 ESTs IMAGE:518883 cytochrome P450, 4a14 IMAGE:575780 ESTs IMAGE:865415 Mus musculus TOB3 mRNA, complete cds IMAGE:477770 mitochondrial ribosomal protein L17 IMAGE:1382734 ESTs IMAGE:1134592 bone morphogenic protein receptor, type II serine/threonine kinase IMAGE:1383858 ESTs, Weakly similar to YAE6_YEAST HYPOTHETICAL 13.4 KD PROTEIN IN ACS1-GCV3 INTERGENIC REGION [S.cerevisiae] IMAGE:635786 ESTs IMAGE:1001397 UDP-glucose ceramide glucosyltransferase-like IMAGE:959756 Unknown IMAGE:988484 Mus musculus, clone MGC:31290 IMAGE:4219375, mRNA, complete cds IMAGE:520320 RIKEN cDNA 5031401C21 gene IMAGE:522797 RIKEN cDNA 5031422I09 gene IMAGE:313842 ESTs IMAGE:520613 esterase 10 IMAGE:539629 COP9 constitutive photomorphogenic homolog, subunit 5 Arabidopsis thaliana IMAGE:987831 phenylalkylamine Ca2+ antagonist emopamil binding protein IMAGE:1382651 COP9 constitutive photomorphogenic homolog, subunit 2 Arabidopsis thaliana IMAGE:523133 RIKEN cDNA 5830455K21 gene IMAGE:638441 platelet derived growth factor, B polypeptide IMAGE:1137247 expressed sequence AW210570 IMAGE:619232 RIKEN cDNA 2010013M14 gene IMAGE:976859 ribosomal protein S17 IMAGE:636517 ganglioside-induced differentiation-associat3ed-protein IMAGE:1038921 procollagen, type V, 2alpha IMAGE:1068060 expressed sequence AW559012 IMAGE:571219 Unknown IMAGE:870901 mannose receptor, C1 type IMAGE:1111102 SH3 domain pro3tein IMAGE:418564 axin2 IMAGE:426212 expressed sequence AI425999 IMAGE:621671 RIKEN cDNA 1110007A04 gene IMAGE:865208 heat shock 10 kDa protein 1 chaperonin 10 IMAGE:1276978 hemochromatosis IMAGE:765294 interferon-g induced GTPase IMAGE:1193486 signal transducer and activator of tran1scription IMAGE:776163 expressed sequence C85356 IMAGE:681449 proteasome prosome, macropain 26S subunit, n4on-ATPase, IMAGE:1005857 prosaposin IMAGE:748650 carbonic anhydrase 5a, mitochondrial IMAGE:535029 poly A polymerase alpha IMAGE:934399 phosphatidic acid phosphatase type 2B IMAGE:1092978 apolipoprotein A-V IMAGE:790431 solute carrier family 22 organic cation transpor5ter, member IMAGE:719964 peroxisome proliferative activated receptor, gamma, 1coactivator IMAGE:517569 RIKEN cDNA 1300004O04 gene IMAGE:1345705 dipeptidylpepti4dase IMAGE:1227633 carboxyleste3rase IMAGE:1332649 zinc finger prolifer1ation IMAGE:520056 expressed sequence AU015315 IMAGE:516646 Mus musculus, Similar to hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/aetnaosyel -tCroiefnuznycmtei oAn ahly dprrotein, beta subunit, clone MGC:7126 IMAGE:3158015, mRNA, complete cds IMAGE:517625 solute carrier family 2 facilitated glucose transpor4ter, member IMAGE:1384125 proline rich protein expressed in brain IMAGE:524388 Unknown IMAGE:523990 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial IMAGE:1092244 cytochrome P450, 4a10 IMAGE:518930 Unknown IMAGE:368571 L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain IMAGE:722501 transducin-like enhancer of split 3, homolog of Drosophila Espl IMAGE:717625 Fc receptor, IgE, low affinity II, alpha polypeptide IMAGE:335781 actinin al2pha IMAGE:1384169 flavin containing monooxy1genase IMAGE:774928 aristaless related homeobox gene Drosophila IMAGE:907211 Mus musculus, Similar to F-box only protein 21, clone MGC:28066 IMAGE:3709413, mRNA, complete cds IMAGE:1227434 expressed sequence AA409584 IMAGE:1262735 2-hydroxyphytanoyl-CoA lyase IMAGE:2101335 carnitine palmitoyltrans2ferase IMAGE:524966 Unknown IMAGE:1495918 tumor protein D521-like IMAGE:642511 complement component 1, q subcomponent binding protein IMAGE:988764 GTP cyclohydro1lase IMAGE:583033 expressed sequence AW124722 IMAGE:313629 Mus musculus, clone MGC:18730 IMAGE:3980676, mRNA, complete cds IMAGE:350310 RAR-related orphan receptor alpha IMAGE:836320 SEC23A S. cerevisiae IMAGE:678570 RIKEN cDNA 2610039E05 gene IMAGE:679213 ESTs IMAGE:352598 RIKEN cDNA 5730405D16 gene IMAGE:959635 calpain 10 IMAGE:642415 RIKEN cDNA 1700026N20 gene IMAGE:720884 ESTs, Weakly similar to T25148 hypothetical protein VT23B5.2 - Caenorhabditis elegans [C.elegans] IMAGE:933700 cellular repressor of E1A-stimulated genes IMAGE:1227154 proteasome prosome, macropain subunit, a3lpha type IMAGE:1429281 zinc finger protein, subfam4ily 1A, IMAGE:1005904 RIKEN cDNA 3010027G13 gene IMAGE:908565 expressed sequence AI834976 IMAGE:1384195 cytochrome P450, subfamily IV B, pol1ypeptide IMAGE:935589 Williams-Beuren syndrome chromosome region 14 homolog human IMAGE:1247426 RIKEN cDNA 1110018O12 gene IMAGE:902193 death-associated k2inase IMAGE:313248 3-hydroxy-3-methylglutaryl-Coenzyme A lyase IMAGE:1383654 ESTs, Weakly similar to G02273 LIV-1 protein [H.sapiens] IMAGE:1150770 annexin A5 IMAGE:847445 RIKEN cDNA 1500031O19 gene IMAGE:1139752 expressed sequence AI118514 IMAGE:640707 RIKEN cDNA 6330414G21 gene IMAGE:1149658 clathrin, light polypeptide Lca IMAGE:403259 huntingtin-associated p1rotein IMAGE:989093 eukaryotic translation initiation factor 4A1 IMAGE:1107314 RIKEN cDNA 0610038L10 gene IMAGE:944309 ESTs, Highly similar to JC5511 TATA-binding protein-associated
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  • Genetic Defects in B-Cell Development and Their Clinical Consequences H Abolhassani,1,2 N Parvaneh,1 N Rezaei,1 L Hammarström,2 a Aghamohammadi1

    Genetic Defects in B-Cell Development and Their Clinical Consequences H Abolhassani,1,2 N Parvaneh,1 N Rezaei,1 L Hammarström,2 a Aghamohammadi1

    REVIEWS Genetic Defects in B-Cell Development and Their Clinical Consequences H Abolhassani,1,2 N Parvaneh,1 N Rezaei,1 L Hammarström,2 A Aghamohammadi1 1Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden n Abstract Expression of selected genes in hematopoietic stem cells has been identified as a regulator of differentiation of B cells in the liver and bone marrow. Moreover, naïve B cells expressing surface immunoglobulin need other types of genes for antigen-dependent development in secondary lymphoid organs. Many advanced molecular mechanisms underlying primary antibody deficiencies in humans have been described. We provide an overview of the mutations in genes known to be involved in B-cell development and their clinical consequences. Key words: Genetic disorder. B-cell development. Primary antibody deficiencies. Clinical phenotypes. n Resumen Se ha identificado la expresión de genes seleccionados en las células pluripotenciales de médula ósea como reguladores de la diferenciación de las células B en el hígado y en médula ósea. Sin embargo, las células B naïve que expresan inmunoglubulinas de superficie, necesitan otros tipos de genes para su desarrollo en los órganos linfoides secundarios dependienteS de antígeno. Se han descrito muchos mecanismos moleculares avanzados que subrayan las inmunodeficiencias en humanos y esta revisión constituye una visión general de la mutación en todos los genes conocidos involucrados en el desarrollo de las células B y sus consecuencias clínicas. Palabras clave: Alteraciones genéticas. Desarrollo de las células B.
  • Hereditary Hearing Impairment with Cutaneous Abnormalities

    Hereditary Hearing Impairment with Cutaneous Abnormalities

    G C A T T A C G G C A T genes Review Hereditary Hearing Impairment with Cutaneous Abnormalities Tung-Lin Lee 1 , Pei-Hsuan Lin 2,3, Pei-Lung Chen 3,4,5,6 , Jin-Bon Hong 4,7,* and Chen-Chi Wu 2,3,5,8,* 1 Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan; [email protected] 2 Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan; [email protected] 3 Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan; [email protected] 4 Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan 5 Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan 6 Department of Internal Medicine, National Taiwan University Hospital, Taipei 10041, Taiwan 7 Department of Dermatology, National Taiwan University Hospital, Taipei City 100, Taiwan 8 Department of Medical Research, National Taiwan University Biomedical Park Hospital, Hsinchu City 300, Taiwan * Correspondence: [email protected] (J.-B.H.); [email protected] (C.-C.W.) Abstract: Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications.
  • Complement Receptor 1 Therapeutics for Prevention of Immune Hemolysis

    Complement Receptor 1 Therapeutics for Prevention of Immune Hemolysis

    Review: complement receptor 1 therapeutics for prevention of immune hemolysis K.YAZDANBAKHSH The complement system plays a crucial role in fighting infections biological activities, it has to be activated. Activation and is an important link between the innate and adaptive immune occurs in a sequence that involves proteolytic cleavage responses. However, inappropriate complement activation can cause tissue damage, and it underlies the pathology of many of the complement components, resulting in the diseases. In the transfusion medicine setting, complement release of active biological mediators and the assembly sensitization of RBCs can lead to both intravascular and of active enzyme molecules that result in cleavage of extravascular destruction. Moreover, complement deficiencies are 1 associated with autoimmune disorders, including autoimmune the next downstream complement component. hemolytic anemia (AIHA). Complement receptor 1 (CR1) is a large Depending on the nature of the activators, three single-pass glycoprotein that is expressed on a variety of cell types complement activation pathways have been described: in blood, including RBCs and immune cells. Among its multiple the antibody-dependent classical pathway and the functions is its ability to inhibit complement activation. Furthermore, gene knockout studies in mice implicate a role for antibody-independent alternative and lectin pathways CR1 (along with the alternatively spliced gene product CR2) in (Fig. 1).1 Common to all three pathways are two prevention of autoimmunity. This review discusses the possibility critical steps: the assembly of the C3 convertase that the CR1 protein may be manipulated to prevent and treat AIHA. In addition, it will be shown in an in vivo mouse model of enzymes and the activation of C5 convertases.