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1 ICR-Geneset Gene List

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ICR-geneset Gene List. IMAGE ID UniGene Locus Name Cluster 20115 Hs.62185 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 21738 21899 Hs.78353 SRPK2 SFRS protein kinase 2 21908 Hs.79133 CDH8 cadherin 8, type 2 22040 Hs.151738 MMP9 matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase) 22411 Hs.183 FY Duffy blood group 22731 Hs.1787 PHRET1 PH domain containing protein in retina 1 22859 Hs.356487 ESTs 22883 Hs.150926 FPGT fucose-1-phosphate guanylyltransferase 22918 Hs.346868 EBNA1BP2 EBNA1 binding protein 2 23012 Hs.158205 BLZF1 basic leucine zipper nuclear factor 1 (JEM-1) 23073 Hs.284244 FGF2 fibroblast growth factor 2 (basic) 23173 Hs.151051 MAPK10 mitogen-activated protein kinase 10 23185 Hs.289114 TNC tenascin C (hexabrachion) 23282 Hs.8024 IK IK cytokine, down-regulator of HLA II 23353 23431 Hs.50421 RB1CC1 RB1-inducible coiled-coil 1 23514 23548 Hs.71848 Human clone 23548 mRNA sequence 23629 Hs.135587 Human clone 23629 mRNA sequence 23658 Hs.265855 SETMAR SET domain and mariner transposase fusion gene 23676 Hs.100841 Homo sapiens clone 23676 mRNA sequence 23772 Hs.78788 LZTR1 leucine-zipper-like transcriptional regulator, 1 23776 Hs.75438 QDPR quinoid dihydropteridine reductase 23804 Hs.343586 ZFP36 zinc finger protein 36, C3H type, homolog (mouse) 23831 Hs.155247 ALDOC aldolase C, fructose-bisphosphate 23878 Hs.99902 OPCML opioid binding protein/cell adhesion molecule-like 23903 Hs.12526 Homo sapiens clone 23903 mRNA sequence 23932 Hs.368063 Human clone 23932 mRNA sequence 24004 Hs.78362 Human clone 23839 mRNA sequence http://www.icr.ac.uk/array/array.html Aug 2002 1 24032 Hs.155566 CRADD CASP2 and RIPK1 domain containing adaptor with death domain 24085 Hs.1117 TPP2 tripeptidyl peptidase II 24415 Hs.1846 TP53 tumor protein p53 (Li-Fraumeni syndrome) 24642 Hs.174185 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 (autotaxin) 24884 Hs.143434 CNTN1 contactin 1 24918 Hs.78406 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 25050 25499 Hs.322844 DKFZp564A176 hypothetical protein DKFZp564A176 25517 Hs.78885 BTD biotinidase 25588 Hs.81248 CUGBP1 CUG triplet repeat, RNA binding protein 1 25621 Hs.160958 CDC37 CDC37 cell division cycle 37 homolog (S. cerevisiae) 25679 Hs.552 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 25755 Hs.20991 SETDB1 SET domain, bifurcated 1 25807 Hs.301055 C20orf104 chromosome 20 open reading frame 104 25922 Hs.250712 CACNB3 calcium channel, voltage-dependent, beta 3 subunit 25988 Hs.211568 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 26021 Hs.23731 DLG4 discs, large (Drosophila) homolog 4 26162 Hs.91343 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 26249 Hs.75149 SH3GL2 SH3-domain GRB2-like 2 26295 Hs.75110 CNR1 cannabinoid receptor 1 (brain) 26314 Hs.8813 STXBP3 syntaxin binding protein 3 26418 Hs.154210 EDG1 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 26566 Hs.99654 POMT1 protein-O-mannosyltransferase 1 26568 Hs.74088 EGR3 early growth response 3 26578 Hs.13501 PES1 pescadillo homolog 1, containing BRCT domain (zebrafish) 26616 Hs.79411 RPA2 replication protein A2 (32kD) 26617 Hs.10247 ALCAM activated leucocyte cell adhesion molecule 26711 Hs.240770 NCBP2 nuclear cap binding protein subunit 2, 20kD 26811 Hs.150930 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 26884 Hs.176977 OLIG2 oligodendrocyte lineage transcription factor 2 26910 Hs.100391 T54 T54 protein 27104 Hs.76986 MAML1 mastermind-like 1 (Drosophila) 27544 Hs.112360 PROML1 prominin-like 1 (mouse) http://www.icr.ac.uk/array/array.html Aug 2002 2 27548 Hs.211608 NUP153 nucleoporin 153kD 27787 Hs.210863 CHL1 cell adhesion molecule with homology to L1CAM (close homolog of L1) 28012 Hs.100293 OGT O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N- acetylglucosaminyl transferase) 28098 Hs.7137 LOC57862 clones 23667 and 23775 zinc finger protein 28218 Hs.7195 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 28422 28469 Hs.177584 OXCT 3-oxoacid CoA transferase 28475 Hs.83114 CRYZ crystallin, zeta (quinone reductase) 28510 Hs.2998 CNTN2 contactin 2 (axonal) 28774 28823 Hs.77770 AP3M2 adaptor-related protein complex 3, mu 2 subunit 29964 Hs.12289 CEP2 Cdc42 effector protein 2 30093 Hs.24763 RANBP1 RAN binding protein 1 30170 Hs.74552 CASP3 caspase 3, apoptosis-related cysteine protease 30175 Hs.258609 PTPRO protein tyrosine phosphatase, receptor type, O 30473 Hs.23964 SAP18 sin3-associated polypeptide, 18kD 30502 Hs.250500 DLL1 delta-like 1 (Drosophila) 30850 Hs.159581 MMP17 matrix metalloproteinase 17 (membrane-inserted) 30885 Hs.116875 SART3 squamous cell carcinoma antigen recognised by T cells 3 30963 Hs.12523 FLRT1 fibronectin leucine rich transmembrane protein 1 31072 Hs.78977 PCSK1 proprotein convertase subtilisin/kexin type 1 31093 Hs.63984 CDH13 cadherin 13, H-cadherin (heart) 31842 Hs.154073 UGTREL1 UDP-galactose transporter related 31866 Hs.77897 SF3A3 splicing factor 3a, subunit 3, 60kD 31873 Hs.236774 HMG17L3 high-mobility group (nonhistone chromosomal) protein 17-like 3 32074 Hs.167036 Homo sapiens clone 23798 and 23825 mRNA sequence 32229 Hs.6580 Homo sapiens clone 23718 mRNA sequence 32231 Hs.84753 FLJ12442 hypothetical protein FLJ12442 32241 Hs.90421 KIAA0410 KIAA0410 gene product 32257 Hs.75975 SRP9 signal recognition particle 9kD 32299 Hs.5753 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 32304 Hs.151301 CADPS Ca2+-dependent activator protein for secretion 32472 Hs.4791 KIAA0376 KIAA0376 protein http://www.icr.ac.uk/array/array.html Aug 2002 3 32493 Hs.227730 ITGA6 integrin, alpha 6 32565 Hs.75251 PIAS1 protein inhibitor of activated STAT, 1 32609 Hs.78672 LAMA4 laminin, alpha 4 32632 Hs.312553 ESTs 32664 Hs.296184 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 32684 Hs.169793 RPL32 ribosomal protein L32 32697 Hs.12784 KIAA0293 KIAA0293 protein 33045 Hs.169266 NPY1R neuropeptide Y receptor Y1 33049 Hs.151573 CRY1 cryptochrome 1 (photolyase-like) 33051 Hs.2714 FOXG1B forkhead box G1B 33076 Hs.171889 CHPT1 choline phosphotransferase 1 33096 Hs.181581 GRIK1 glutamate receptor, ionotropic, kainate 1 33182 Hs.90798 Human clone 23695 mRNA sequence 33299 Hs.22559 NUP160 nucleoporin 160kD 33327 Hs.11101 KIAA1232 KIAA1232 protein 33478 Hs.754 FPGS folylpolyglutamate synthase 33496 Hs.51649 Homo sapiens clone 24504 mRNA sequence 33500 Hs.106300 Homo sapiens clone 23556 mRNA sequence 33643 Hs.170808 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) 33690 Hs.64542 CPSF6 cleavage and polyadenylation specific factor 6, 68kD subunit 33826 Hs.3446 MAP2K1 mitogen-activated protein kinase kinase 1 33941 Hs.89655 PTPRN protein tyrosine phosphatase, receptor type, N 33949 Hs.77498 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 34102 Hs.172647 GOLGA1 golgi autoantigen, golgin subfamily a, 1 34106 Hs.82563 KIAA0153 KIAA0153 protein 34140 Hs.79381 GCA grancalcin, EF-hand calcium binding protein 34184 Hs.6241 PIK3R1 phosphoinositide-3-kinase, regulatory subunit, polypeptide 1 (p85 alpha) 34204 Hs.75090 TRIM9 tripartite motif-containing 9 34315 34400 34405 Hs.48712 FLJ20736 hypothetical protein FLJ20736 34439 Hs.22919 FUS2 putative tumor suppressor 34616 Hs.4935 KIAA0176 KIAA0176 protein 34671 Hs.75294 CRH corticotropin releasing hormone http://www.icr.ac.uk/array/array.html Aug 2002 4 34773 34778 Hs.73793 VEGF vascular endothelial growth factor 34795 Hs.75416 DAZAP2 DAZ associated protein 2 34837 Hs.374307 ESTs, Highly similar to JC5600 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase (EC 2.4.99.8) - human [H.sapiens] 34849 Hs.75309 EEF2 eukaryotic translation elongation factor 2 34852 Hs.289107 BIRC2 baculoviral IAP repeat-containing 2 34888 Hs.12246 RELN reelin 35077 Hs.21639 APEG1 nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury 35105 35185 Hs.89768 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 35191 Hs.118684 SDF2 stromal cell-derived factor 2 35271 Hs.7912 NRCAM neuronal cell adhesion molecule 35318 Hs.94 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 35356 Hs.26776 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 35812 Hs.12376 PCLO piccolo (presynaptic cytomatrix protein) 35828 Hs.799 DTR diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) 36374 Hs.23960 CCNB1 cyclin B1 36387 Hs.2533 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 36393 Hs.278544 ACAT2 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) 36491 36493 Hs.75372 NAGA N-acetylgalactosaminidase, alpha- 37234 Hs.82979 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 37491 Hs.73999 TRIP10 thyroid hormone receptor interactor 10 37553 Hs.236963 PPP2R4 protein phosphatase 2A, regulatory subunit B' (PR 53) 37704 Hs.5637 CBX4 chromobox homolog 4 (Pc class homolog, Drosophila) 37919 Hs.12533 Homo sapiens clone 23705 mRNA sequence 38059 Hs.203238 PDE1B phosphodiesterase 1B, calmodulin-dependent 38642 Hs.150595 CYP26A1 cytochrome P450, subfamily XXVIA, polypeptide 1 38763 39127 Hs.50130 NDN necdin homolog (mouse) 39274 39313 Hs.154655 MRPS31 mitochondrial ribosomal protein S31 http://www.icr.ac.uk/array/array.html Aug 2002 5 39574 Hs.62576 KIAA1240 KIAA1240 protein 39593 Hs.12409 SST somatostatin 39722 Hs.99987 ERCC2 excision repair cross-complementing rodent repair deficiency, complementation
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    Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway Eva Morava, Tjitske Kleefstra, Saskia Wortmann, Richard Rodenburg, Ernie Mhf Bongers, Kinga Hadzsiev, Lambert van den Heuvel, Willy M Nillessen, Katalin Hollody, Martin Lammens, et al. To cite this version: Eva Morava, Tjitske Kleefstra, Saskia Wortmann, Richard Rodenburg, Ernie Mhf Bongers, et al.. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. European Journal of Human Genetics, Nature Publishing Group, 2010, 10.1038/ejhg.2010.171. hal-00591692 HAL Id: hal-00591692 https://hal.archives-ouvertes.fr/hal-00591692 Submitted on 10 May 2011 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway Running title: mutations in MAPK and mitochondrial dysfunction Tjitske Kleefstra1+, Saskia B. Wortmann2+, Richard J.T. Rodenburg2,3, Ernie M.H.F. Bongers1, Kinga Hadzsiev4, Cees Noordam5, Lambert
  • Characterisation of Isomirs in Stem Cells

    Characterisation of Isomirs in Stem Cells

    Characterisation of isomiRs in stem cells Geok Chin Tan Institute of Reproductive and Developmental Biology Department of Surgery and Cancer Faculty of Medicine Imperial College London Thesis submitted to Imperial College London for the degree of Doctor of Philosophy 1 Statement of Originality All experiments included in this thesis were performed by me unless otherwise stated in the text. 2 Copyright Statement ‘The copyright of this thesis rests with the author and is made available under a Creative Commons Attribution Non-Commercial No Derivatives licence. Researchers are free to copy, distribute or transmit the thesis on the condition that they attribute it, that they do not use it for commercial purposes and that they do not alter, transform or build upon it. For any reuse or redistribution, researchers must make clear to others the licence terms of this work’ 3 Acknowledgements I would like to thank my supervisor Dr Nicholas Dibb for giving me the opportunity to work in his lab and for all of his guidance and support throughout my PhD, without which this project would not have been possible. I am also very grateful to Dr Wei Cui for teaching me the technique of stem cell culture, her comments on my project related to stem cells and as a wonderful co-supervisor. I would like to also thank Professor Malcolm Parker for his supports and advise on academic and non-academic related subjects. Many thanks to Elcie Chan for the generation of all the stem cell libraries which forms the platform for my project. My sincere thanks also to Gunter Meister for supplying the Argonaute antibodies, Leandro Castellano for the help in the design of RNA sponges, Laki Buluwela for the pTRIPz lentiviral vector and last but not least Alywn Dart from Charlotte Bevan group for the prostate cancer cell lines.