Works matching DE "WISKOTT-Aldrich syndrome"

Results: 285
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    Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

    Published in:
    Journal of Pathology, 2022, v. 256, n. 1, p. 93, doi. 10.1002/path.5812
    By:
    • Gangfuß, Andrea;
    • Czech, Artur;
    • Hentschel, Andreas;
    • Münchberg, Ute;
    • Horvath, Rita;
    • Töpf, Ana;
    • O'Heir, Emily;
    • Lochmüller, Hanns;
    • Stehling, Florian;
    • Kiewert, Cordula;
    • Sickmann, Albert;
    • Kuechler, Alma;
    • Kaiser, Frank J.;
    • Kölbel, Heike;
    • Christiansen, Jon;
    • Schara‐Schmidt, Ulrike;
    • Roos, Andreas
    Publication type:
    Article
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    The Role of WAVE2 Signaling in Cancer.

    Published in:
    Biomedicines, 2021, v. 9, n. 9, p. 1217, doi. 10.3390/biomedicines9091217
    By:
    • Rana, Priyanka Shailendra;
    • Alkrekshi, Akram;
    • Wang, Wei;
    • Markovic, Vesna;
    • Sossey-Alaoui, Khalid
    Publication type:
    Article
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    Inborn errors of immunity and related microbiome.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.982772
    By:
    • Hazime, Raja;
    • Eddehbi, Fatima-Ezzohra;
    • Mojadili, Saad El;
    • Lakhouaja, Nadia;
    • Souli, Ikram;
    • Salami, Abdelmouïne;
    • M'Raouni, Bouchra;
    • Brahim, Imane;
    • Oujidi, Mohamed;
    • Guennouni, Morad;
    • Bousfiha, Ahmed Aziz;
    • Admou, Brahim
    Publication type:
    Article
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    Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.919237
    By:
    • Chiriaco, Maria;
    • Ursu, Giorgiana Madalina;
    • Amodio, Donato;
    • Cotugno, Nicola;
    • Volpi, Stefano;
    • Berardinelli, Francesco;
    • Pizzi, Simone;
    • Cifaldi, Cristina;
    • Zoccolillo, Matteo;
    • Prigione, Ignazia;
    • Cesare, Silvia Di;
    • Giancotta, Carmela;
    • Anastasio, Elisa;
    • Rivalta, Beatrice;
    • Pacillo, Lucia;
    • Zangari, Paola;
    • Fiocchi, Alessandro G.;
    • Diociaiuti, Andrea;
    • Bruselles, Alessandro;
    • Pantaleoni, Francesca
    Publication type:
    Article
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    WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03670-6
    By:
    • Biswas, Amlan;
    • Shouval, Dror S.;
    • Griffith, Alexandra;
    • Goettel, Jeremy A.;
    • Field, Michael;
    • Yu Hui Kang;
    • Konnikova, Liza;
    • Janssen, Erin;
    • Redhu, Naresh Singh;
    • Thrasher, Adrian J.;
    • Chatila, Talal;
    • Kuchroo, Vijay K.;
    • Geha, Raif S.;
    • Notarangelo, Luigi D.;
    • Sung-Yun Pai;
    • Horwitz, Bruce H.;
    • Snapper, Scott B.
    Publication type:
    Article
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    Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01676-0
    By:
    • Lee, Pamela P.;
    • Lobato-Márquez, Damián;
    • Pramanik, Nayani;
    • Sirianni, Andrea;
    • Daza-Cajigal, Vanessa;
    • Rivers, Elizabeth;
    • Cavazza, Alessia;
    • Bouma, Gerben;
    • Moulding, Dale;
    • Hultenby, Kjell;
    • Westerberg, Lisa S.;
    • Hollinshead, Michael;
    • Lau, Yu-Lung;
    • Burns, Siobhan O.;
    • Mostowy, Serge;
    • Bajaj-Elliott, Mona;
    • Thrasher, Adrian J.
    Publication type:
    Article
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    Phase transitions in the assembly of multivalent signalling proteins.

    Published in:
    Nature, 2012, v. 483, n. 7389, p. 336, doi. 10.1038/nature10879
    By:
    • Li, Pilong;
    • Banjade, Sudeep;
    • Cheng, Hui-Chun;
    • Kim, Soyeon;
    • Chen, Baoyu;
    • Guo, Liang;
    • Llaguno, Marc;
    • Hollingsworth, Javoris V.;
    • King, David S.;
    • Banani, Salman F.;
    • Russo, Paul S.;
    • Jiang, Qiu-Xing;
    • Nixon, B. Tracy;
    • Rosen, Michael K.
    Publication type:
    Article
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    Mild SARS-CoV-2 Infection After Gene Therapy in a Child With Wiskott-Aldrich Syndrome: A Case Report.

    Published in:
    Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.603428
    By:
    • Cenciarelli, Sabina;
    • Calbi, Valeria;
    • Barzaghi, Federica;
    • Bernardo, Maria Ester;
    • Oltolini, Chiara;
    • Migliavacca, Maddalena;
    • Gallo, Vera;
    • Tucci, Francesca;
    • Fraschetta, Federico;
    • Albertazzi, Elena;
    • Fratini, Elena Sophia;
    • Consiglieri, Giulia;
    • Giannelli, Stefania;
    • Dionisio, Francesca;
    • Sartirana, Claudia;
    • Racca, Sara;
    • Camesasca, Chiara;
    • Peretto, Giovanni;
    • Daverio, Rita;
    • Esposito, Antonio
    Publication type:
    Article
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