Works matching AU Jackson, Andrew P.


Results: 87
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    Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
    By:
    • Tarnauskaitė, Žygimantė;
    • Bicknell, Louise S.;
    • Marsh, Joseph A.;
    • Murray, Jennie E.;
    • Parry, David A.;
    • Logan, Clare V.;
    • Bober, Michael B.;
    • Silva, Deepthi C.;
    • Duker, Angela L.;
    • Sillence, David;
    • Wise, Carol;
    • Jackson, Andrew P.;
    • Murina, Olga;
    • Reijns, Martin A. M.
    Publication type:
    Article
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    Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi- Goutières Syndrome.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1066, doi. 10.1002/humu.22336
    By:
    • Rice, Gillian I.;
    • Reijns, Martin A.M.;
    • Coffin, Stephanie R.;
    • Forte, Gabriella M.A.;
    • Anderson, Beverley H.;
    • Szynkiewicz, Marcin;
    • Gornall, Hannah;
    • Gent, David;
    • Leitch, Andrea;
    • Botella, Maria P.;
    • Fazzi, Elisa;
    • Gener, Blanca;
    • Lagae, Lieven;
    • Olivieri, Ivana;
    • Orcesi, Simona;
    • Swoboda, Kathryn J.;
    • Perrino, Fred W.;
    • Jackson, Andrew P.;
    • Crow, Yanick J.
    Publication type:
    Article
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    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
    By:
    • Martin, Carol-Anne;
    • Klingseisen, Anna;
    • Bicknell, Louise S;
    • Leitch, Andrea;
    • Murray, Jennie E;
    • Hunt, David;
    • Ding, James;
    • Harley, Margaret E;
    • Heyn, Patricia;
    • Jackson, Andrew P;
    • Daire, Valérie Cormier;
    • Dollfus, Hélène;
    • Dupuis, Lucie;
    • Mendoza-Londono, Roberto;
    • Bashamboo, Anu;
    • McElreavey, Kenneth;
    • Kariminejad, Ariana;
    • Moore, Anthony T;
    • Saggar, Anand;
    • Schlechter, Catie
    Publication type:
    Article
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    Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 350, doi. 10.1038/ng.776
    By:
    • Bicknell, Louise S.;
    • Walker, Sarah;
    • Klingseisen, Anna;
    • Stiff, Tom;
    • Leitch, Andrea;
    • Kerzendorfer, Claudia;
    • Martin, Carol-Anne;
    • Yeyati, Patricia;
    • Al Sanna, Nouriya;
    • Bober, Michael;
    • Johnson, Diana;
    • Wise, Carol;
    • Jackson, Andrew P.;
    • O'Driscoll, Mark;
    • Jeggo, Penny A.
    Publication type:
    Article
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    RNase H2, mutated in Aicardi‐Goutières syndrome, promotes LINE‐1 retrotransposition.

    Published in:
    EMBO Journal, 2018, v. 37, n. 15, p. 1, doi. 10.15252/embj.201798506
    By:
    • Benitez‐Guijarro, Maria;
    • Lopez‐Ruiz, Cesar;
    • Tarnauskaitė, Žygimantė;
    • Murina, Olga;
    • Mian Mohammad, Mahwish;
    • Williams, Thomas C.;
    • Fluteau, Adeline;
    • Sanchez, Laura;
    • Vilar‐Astasio, Raquel;
    • Garcia‐Canadas, Marta;
    • Cano, David;
    • Kempen, Marie‐Jeanne H. C.;
    • Sanchez‐Pozo, Antonio;
    • Heras, Sara R.;
    • Jackson, Andrew P.;
    • Reijns, Martin A. M.;
    • Garcia‐Perez, Jose L.
    Publication type:
    Article
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    Growth in individuals with Saul–Wilson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2110, doi. 10.1002/ajmg.a.61754
    By:
    • Ferreira, Carlos R.;
    • Niiler, Timothy;
    • Duker, Angela L.;
    • Jackson, Andrew P.;
    • Bober, Michael B.
    Publication type:
    Article
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    Genome of Leptomonas pyrrhocoris: a high-quality reference for monoxenous trypanosomatids and new insights into evolution of Leishmania.

    Published in:
    Scientific Reports, 2016, p. 23704, doi. 10.1038/srep23704
    By:
    • Flegontov, Pavel;
    • Butenko, Anzhelika;
    • Firsov, Sergei;
    • Kraeva, Natalya;
    • Eliáš, Marek;
    • Field, Mark C.;
    • Filatov, Dmitry;
    • Flegontova, Olga;
    • Gerasimov, Evgeny S.;
    • Hlaváčová, Jana;
    • Ishemgulova, Aygul;
    • Jackson, Andrew P.;
    • Kelly, Steve;
    • Kostygov, Alexei Y.;
    • Logacheva, Maria D.;
    • Maslov, Dmitri A.;
    • Opperdoes, Fred R.;
    • O'Reilly, Amanda;
    • Sádlová, Jovana;
    • Ševčíková, Tereza
    Publication type:
    Article
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    Meier-Gorlin syndrome.

    Published in:
    2015
    By:
    • de Munnik, Sonja A.;
    • Hoefsloot, Elisabeth H.;
    • Roukema, Jolt;
    • Schoots, Jeroen;
    • Knoers, Nine V. A. M.;
    • Brunner, Han G.;
    • Jackson, Andrew P.;
    • Bongers, Ernie M. H. F.;
    • Knoers, Nine Vam;
    • Bongers, Ernie Mhf
    Publication type:
    journal article
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    Vivaxin genes encode highly immunogenic, non-variant antigens on the Trypanosoma vivax cell-surface.

    Published in:
    PLoS Neglected Tropical Diseases, 2022, v. 16, n. 9, p. 1, doi. 10.1371/journal.pntd.0010791
    By:
    • Romero-Ramirez, Alessandra;
    • Casas-Sánchez, Aitor;
    • Autheman, Delphine;
    • Duffy, Craig W.;
    • Brandt, Cordelia;
    • Clare, Simon;
    • Harcourt, Katherine;
    • André, Marcos Rogério;
    • de Almeida Castilho Neto, Kayo José Garcia;
    • Teixeira, Marta M. G.;
    • Machado, Rosangela Zacharias;
    • Coombes, Janine;
    • Flynn, Robin J.;
    • Wright, Gavin J.;
    • Jackson, Andrew P.
    Publication type:
    Article
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    Ribonuclease H2 in health and disease.

    Published in:
    Biochemical Society Transactions, 2014, v. 42, n. 4, p. 717, doi. 10.1042/BST20140079
    By:
    • Reijns, Martin A. M.;
    • Jackson, Andrew P.
    Publication type:
    Article
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    Transcriptome, proteome and draft genome of Euglena gracilis.

    Published in:
    BMC Biology, 2019, v. 17, n. 1, p. 1, doi. 10.1186/s12915-019-0626-8
    By:
    • Ebenezer, ThankGod E.;
    • Zoltner, Martin;
    • Burrell, Alana;
    • Nenarokova, Anna;
    • Novák Vanclová, Anna M. G.;
    • Prasad, Binod;
    • Soukal, Petr;
    • Santana-Molina, Carlos;
    • O'Neill, Ellis;
    • Nankissoor, Nerissa N.;
    • Vadakedath, Nithya;
    • Daiker, Viktor;
    • Obado, Samson;
    • Silva-Pereira, Sara;
    • Jackson, Andrew P.;
    • Devos, Damien P.;
    • Lukeš, Julius;
    • Lebert, Michael;
    • Vaughan, Sue;
    • Hampl, Vladimίr
    Publication type:
    Article
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    Hypomorphic PCNA mutation underlies a human DNA repair disorder.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
    By:
    • Baple, Emma L.;
    • Chambers, Helen;
    • Cross, Harold E.;
    • Fawcett, Heather;
    • Nakazawa, Yuka;
    • Chioza, Barry A.;
    • Harlalka, Gaurav V.;
    • Mansour, Sahar;
    • Sreekantan-Nair, Ajith;
    • Patton, Michael A.;
    • Muggenthaler, Martina;
    • Rich, Phillip;
    • Wagner, Karin;
    • Coblentz, Roselyn;
    • Stein, Constance K.;
    • Last, James I.;
    • Taylor, A. Malcolm R.;
    • Jackson, Andrew P.;
    • Ogi, Tomoo;
    • Lehmann, Alan R.
    Publication type:
    Article
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    A comprehensive evaluation of rodent malaria parasite genomes and gene expression.

    Published in:
    BMC Biology, 2014, v. 12, n. 1, p. 2, doi. 10.1186/s12915-014-0086-0
    By:
    • Otto, Thomas D.;
    • Böhme, Ulrike;
    • Jackson, Andrew P.;
    • Hunt, Martin;
    • Franke-Fayard, Blandine;
    • Hoeijmakers, Wieteke A. M.;
    • Religa, Agnieszka A.;
    • Robertson, Lauren;
    • Sanders, Mandy;
    • Ogun, Solabomi A.;
    • Cunningham, Deirdre;
    • Erhart, Annette;
    • Billker, Oliver;
    • Khan, Shahid M.;
    • Stunnenberg, Hendrik G.;
    • Langhorne, Jean;
    • Holder, Anthony A.;
    • Waters, Andrew P.;
    • Newbold, Chris I.;
    • Pain, Arnab
    Publication type:
    Article
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    Monocarboxylate transporter MCT1 is a target for immunosuppression.

    Published in:
    Nature Chemical Biology, 2005, v. 1, n. 7, p. 371, doi. 10.1038/nchembio744
    By:
    • Murray, Clare M.;
    • Hutchinson, Raymond;
    • Bantick, John R.;
    • Belfield, Graham P.;
    • Benjamin, Amanda D.;
    • Brazma, Diana;
    • Bundick, Robert V.;
    • Cook, I. David;
    • Craggs, Robert I.;
    • Edwards, Susan;
    • Evans, Leslie R.;
    • Harrison, Richard;
    • Holness, Elain;
    • Jackson, Andrew P.;
    • Jackson, Clive G.;
    • Kingston, Lee P.;
    • Perry, Matthew W. D.;
    • Ross, Andrew R. J.;
    • Rugman, Paul A.;
    • Sidhu, Sasvinder S.
    Publication type:
    Article
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    Correction: Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

    Published in:
    2017
    By:
    • Fougère, Aurélie;
    • Jackson, Andrew P.;
    • Bechtsi, Dafni Paraskevi;
    • Braks, Joanna A. M.;
    • Annoura, Takeshi;
    • Fonager, Jannik;
    • Spaccapelo, Roberta;
    • Ramesar, Jai;
    • Chevalley-Maurel, Séverine;
    • Klop, Onny;
    • van der Laan, Annelies M. A.;
    • Tanke, Hans J.;
    • Kocken, Clemens H. M.;
    • Pasini, Erica M.;
    • Khan, Shahid M.;
    • Böhme, Ulrike;
    • van Ooij, Christiaan;
    • Otto, Thomas D.;
    • Janse, Chris J.;
    • Franke-Fayard, Blandine
    Publication type:
    Correction Notice
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    Correction: Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

    Published in:
    2016
    By:
    • Fougère, Aurélie;
    • Jackson, Andrew P.;
    • Paraskevi Bechtsi, Dafni;
    • Braks, Joanna A. M.;
    • Annoura, Takeshi;
    • Fonager, Jannik;
    • Spaccapelo, Roberta;
    • Ramesar, Jai;
    • Chevalley-Maurel, Séverine;
    • Klop, Onny;
    • van der Laan, Annelies M. A.;
    • Tanke, Hans J.;
    • Kocken, Clemens H. M.;
    • Pasini, Erica M.;
    • Khan, Shahid M.;
    • Böhme, Ulrike;
    • van Ooij, Christiaan;
    • Otto, Thomas D.;
    • Janse, Chris J.;
    • Franke-Fayard, Blandine
    Publication type:
    Correction Notice
    48

    Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

    Published in:
    PLoS Pathogens, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.ppat.1005917
    By:
    • Fougère, Aurélie;
    • Jackson, Andrew P.;
    • Paraskevi Bechtsi, Dafni;
    • Braks, Joanna A. M.;
    • Annoura, Takeshi;
    • Fonager, Jannik;
    • Spaccapelo, Roberta;
    • Ramesar, Jai;
    • Chevalley-Maurel, Séverine;
    • Klop, Onny;
    • van der Laan, Annelies M. A.;
    • Tanke, Hans J.;
    • Kocken, Clemens H. M.;
    • Pasini, Erica M.;
    • Khan, Shahid M.;
    • Böhme, Ulrike;
    • van Ooij, Christiaan;
    • Otto, Thomas D.;
    • Janse, Chris J.;
    • Franke-Fayard, Blandine
    Publication type:
    Article
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