Works matching IS 15537390 AND DT 2017 AND VI 13 AND IP 3

Results: 59
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    A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006659
    By:
    • Smith, Dirk;
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Bjornsdottir, Unnur Steina;
    • Lim, Ai Ching;
    • Sveinbjornsson, Gardar;
    • Hasegawa, Haruki;
    • Brown, Michael;
    • Ketchem, Randal R.;
    • Gavala, Monica;
    • Garrett, Logan;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Magnusson, Olafur T.;
    • Eyjolfsson, Gudmundur I.;
    • Olafsson, Isleifur;
    • Onundarson, Pall Torfi;
    • Sigurdardottir, Olof;
    • Gislason, David
    Publication type:
    Article
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    Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006620
    By:
    • Connor, Thomas M.;
    • Hoer, Simon;
    • Mallett, Andrew;
    • Gale, Daniel P.;
    • Gomez-Duran, Aurora;
    • Posse, Viktor;
    • Antrobus, Robin;
    • Moreno, Pablo;
    • Sciacovelli, Marco;
    • Frezza, Christian;
    • Duff, Jennifer;
    • Sheerin, Neil S.;
    • Sayer, John A.;
    • Ashcroft, Margaret;
    • Wiesener, Michael S.;
    • Hudson, Gavin;
    • Gustafsson, Claes M.;
    • Chinnery, Patrick F.;
    • Maxwell, Patrick H.
    Publication type:
    Article
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    Direct Keap1-Nrf2 disruption as a potential therapeutic target for Alzheimer’s disease.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006593
    By:
    • Kerr, Fiona;
    • Sofola-Adesakin, Oyinkan;
    • Martinez, Pedro;
    • Adcott, Jennifer;
    • Callard, Rebecca;
    • Snoeren, Inge;
    • Khericha, Mobina;
    • Castillo-Quan, Jorge Iván;
    • Partridge, Linda;
    • Ivanov, Dobril K.;
    • Thornton, Janet;
    • Gatliff, Jemma;
    • Bertrand, Hélène C.;
    • Wells, Geoffrey;
    • Gomez Perez-Nievas, Beatriz;
    • Noble, Wendy;
    • Cochemé, Helena M.
    Publication type:
    Article
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    Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006641
    By:
    • Baillie, J. Kenneth;
    • Arner, Erik;
    • Daub, Carsten;
    • De Hoon, Michiel;
    • Itoh, Masayoshi;
    • Kawaji, Hideya;
    • Lassmann, Timo;
    • Carninci, Piero;
    • Forrest, Alistair R. R.;
    • Hayashizaki, Yoshihide;
    • null, null;
    • Faulkner, Geoffrey J.;
    • Wells, Christine A.;
    • Rehli, Michael;
    • Pavli, Paul;
    • Summers, Kim M.;
    • Hume, David A.
    Publication type:
    Article
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    TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006636
    By:
    • Seberg, Hannah E.;
    • Cornell, Robert A.;
    • Manak, J. Robert;
    • Van Otterloo, Eric;
    • Williams, Trevor;
    • Loftus, Stacie K.;
    • Pavan, William J.;
    • Liu, Huan;
    • Bonde, Greg;
    • Sompallae, Ramakrishna;
    • Gildea, Derek E.;
    • Santana, Juan F.
    Publication type:
    Article
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    A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006651
    By:
    • Dietschi, Elisabeth;
    • Bauer, Anina;
    • Jagannathan, Vidhya;
    • Leeb, Tosso;
    • Waluk, Dominik P.;
    • Galichet, Arnaud;
    • Sayar, Beyza S.;
    • Müller, Eliane J.;
    • Timm, Katrin;
    • Welle, Monika M.;
    • Wiener, Dominique J.;
    • Roosje, Petra
    Publication type:
    Article
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    Transaldolase inhibition impairs mitochondrial respiration and induces a starvation-like longevity response in Caenorhabditis elegans.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006695
    By:
    • Bennett, Christopher F.;
    • Kwon, Jane J.;
    • Chen, Christine;
    • Russell, Joshua;
    • Acosta, Kathlyn;
    • Burnaevskiy, Nikolay;
    • Crane, Matthew M.;
    • Bitto, Alessandro;
    • Vander Wende, Helen;
    • Simko, Marissa;
    • Pineda, Victor;
    • Rossner, Ryan;
    • Wasko, Brian M.;
    • Choi, Haeri;
    • Chen, Shiwen;
    • Park, Shirley;
    • Jafari, Gholamali;
    • Sands, Bryan;
    • Perez Olsen, Carissa;
    • Mendenhall, Alexander R.
    Publication type:
    Article
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    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
    By:
    • Acuna-Hidalgo, Rocio;
    • Deriziotis, Pelagia;
    • Steehouwer, Marloes;
    • Gilissen, Christian;
    • Graham, Sarah A.;
    • van Dam, Sipko;
    • Hoover-Fong, Julie;
    • Telegrafi, Aida B.;
    • Destree, Anne;
    • Smigiel, Robert;
    • Lambie, Lindsday A.;
    • Kayserili, Hülya;
    • Altunoglu, Umut;
    • Lapi, Elisabetta;
    • Uzielli, Maria Luisa;
    • Aracena, Mariana;
    • Nur, Banu G.;
    • Mihci, Ercan;
    • Moreira, Lilia M. A.;
    • Borges Ferreira, Viviane
    Publication type:
    Article
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    Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006678
    By:
    • He, Karen Y.;
    • Wang, Heming;
    • Cade, Brian E.;
    • Nandakumar, Priyanka;
    • Giri, Ayush;
    • Ware, Erin B.;
    • Haessler, Jeffrey;
    • Liang, Jingjing;
    • Smith, Jennifer A.;
    • Franceschini, Nora;
    • Le, Thu H.;
    • Kooperberg, Charles;
    • Edwards, Todd L.;
    • Kardia, Sharon L. R.;
    • Lin, Xihong;
    • Chakravarti, Aravinda;
    • Redline, Susan;
    • Zhu, Xiaofeng
    Publication type:
    Article
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