Works matching IS 00219738 AND DT 2017 AND VI 127 AND IP 3


Results: 38
    1

    Biallelic inactivation of REV7 is associated with Fanconi anemia.

    Published in:
    2017
    By:
    • Bluteau, Dominique;
    • Masliah-Planchon, Julien;
    • Clairmont, Connor;
    • Rousseau, Alix;
    • Ceccaldi, Raphael;
    • d'Enghien, Catherine Dubois;
    • Bluteau, Olivier;
    • Cuccuini, Wendy;
    • Gachet, Stéphanie;
    • de Latour, Régis Peffault;
    • Leblanc, Thierry;
    • Socié, Gérard;
    • Baruchel, André;
    • Stoppa-Lyonnet, Dominique;
    • D'Andrea, Alan D;
    • Soulier, Jean
    Publication type:
    journal article
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    GATA4-dependent organ-specific endothelial differentiation controls liver development and embryonic hematopoiesis.

    Published in:
    2017
    By:
    • Géraud, Cyrill;
    • Koch, Philipp-Sebastian;
    • Zierow, Johanna;
    • Klapproth, Kay;
    • Busch, Katrin;
    • Olsavszky, Victor;
    • Leibing, Thomas;
    • Demory, Alexandra;
    • Ulbrich, Friederike;
    • Diett, Miriam;
    • Singh, Sandhya;
    • Sticht, Carsten;
    • Breitkopf-Heinlein, Katja;
    • Richter, Karsten;
    • Karppinen, Sanna-Maria;
    • Pihlajaniemi, Taina;
    • Arnold, Bernd;
    • Rodewald, Hans-Reimer;
    • Augustin, Hellmut G.;
    • Schledzewski, Kai
    Publication type:
    journal article
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    Egress of sperm autoantigen from seminiferous tubules maintains systemic tolerance.

    Published in:
    2017
    By:
    • Tung, Kenneth S. K.;
    • Haraka, Jessica;
    • Hui Qiao;
    • Rival, Claudia;
    • Li, Jonathan C. H.;
    • Paul, Alberta G. A.;
    • Wheeler, Karen;
    • Pramoonjago, Patcharin;
    • Grafer, Constance M.;
    • Wei Sun;
    • Sampson, Robert D.;
    • Wong, Elissa W. P.;
    • Reddi, Prabhakara P.;
    • Deshmukh, Umesh S.;
    • Hardy, Daniel M.;
    • Tang, Huanghui;
    • Cheng, C. Yan;
    • Goldberg, Erwin;
    • Harakal, Jessica;
    • Qiao, Hui
    Publication type:
    journal article
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    Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

    Published in:
    2017
    By:
    • Lipstein, Noa;
    • Verhoeven-Duif, Nanda M.;
    • Michelassi, Francesco E.;
    • Calloway, Nathaniel;
    • van Hasselt, Peter M.;
    • Pienkowska, Katarzyna;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.;
    • van Empelen, Ron;
    • Cuppen, Inge;
    • van Teeseling, Heleen C.;
    • Evelein, Annemieke M. V.;
    • Vorstman, Jacob A.;
    • Thoms, Sven;
    • Jahn, Olaf;
    • Duran, Karen J.;
    • Monroe, Glen R.;
    • Ryan, Timothy A.;
    • Taschenberger, Holger;
    • Dittman, Jeremy S.
    Publication type:
    journal article
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    Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

    Published in:
    2017
    By:
    • Prasad, Rathi;
    • Hadjidemetriou, Irene;
    • Maharaj, Avinaash;
    • Meimaridou, Eirini;
    • Buonocore, Federica;
    • Saleem, Moin;
    • Hurcombe, Jenny;
    • Bierzynska, Agnieszka;
    • Barbagelata, Eliana;
    • Bergadá, Ignacio;
    • Cassinelli, Hamilton;
    • Das, Urmi;
    • GOSgene;
    • Krone, Ruth;
    • Hacihamdioglu, Bulent;
    • Sari, Erkan;
    • Yesilkaya, Ediz;
    • Storr, Helen L.;
    • Clemente, Maria;
    • Fernandez-Cancio, Monica
    Publication type:
    journal article
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    Dosage-dependent copy number gains in E2f1 and E2f3 drive hepatocellular carcinoma.

    Published in:
    2017
    By:
    • Kent, Lindsey N.;
    • Sooin Bae;
    • Shih-Yin Tsai;
    • Xing Tang;
    • Srivastava, Arunima;
    • Koivisto, Christopher;
    • Martin, Chelsea K.;
    • Ridolfi, Elisa;
    • Miller, Grace C.;
    • Zorko, Sarah M.;
    • Plevris, Emilia;
    • Hadjiyannis, Yannis;
    • Perez, Miguel;
    • Nolan, Eric;
    • Kladney, Raleigh;
    • Westendorp, Bart;
    • de Bruin, Alain;
    • Fernandez, Soledad;
    • Rosol, Thomas J.;
    • Pohar, Kamal S.
    Publication type:
    journal article
    27

    Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.

    Published in:
    2017
    By:
    • Pleines, Irina;
    • Woods, Joanne;
    • Chappaz, Stephane;
    • Kew, Verity;
    • Foad, Nicola;
    • Ballester-Beltrán, José;
    • Aurbach, Katja;
    • Lincetto, Chiara;
    • Lane, Rachael M.;
    • Schevzov, Galina;
    • Alexander, Warren S.;
    • Hilton, Douglas J.;
    • Astle, William J.;
    • Downes, Kate;
    • Nurden, Paquita;
    • Westbury, Sarah K.;
    • Mumford, Andrew D.;
    • Obaji, Samya G.;
    • Collins, Peter W.;
    • BioResource, NIHR
    Publication type:
    journal article
    28

    A CCR4 antagonist reverses the tumor-promoting microenvironment of renal cancer.

    Published in:
    2017
    By:
    • Berlato, Chiara;
    • Khan, Moddasar N.;
    • Schioppa, Tiziana;
    • Thompson, Richard;
    • Maniati, Eleni;
    • Montfort, Anne;
    • Jangani, Maryam;
    • Canosa, Monica;
    • Kulbe, Hagen;
    • Hagemann, Urs B.;
    • Duncan, Alexander R.;
    • Fletcher, Laura;
    • Wilkinson, Robert W.;
    • Powles, Thomas;
    • Quezada, Sergio A.;
    • Balkwill, Frances R.
    Publication type:
    journal article
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    Targeting noncoding RNAs in disease.

    Published in:
    2017
    By:
    • Adams, Brian D.;
    • Parsons, Christine;
    • Walker, Lisa;
    • Wen Cai Zhang;
    • Slack, Frank J.;
    • Zhang, Wen Cai
    Publication type:
    journal article
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