Works matching AU Boztug, Kaan

Results: 76
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    JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 1021, doi. 10.1038/ng.3069
    By:
    • Boztug, Kaan;
    • Järvinen, Päivi M;
    • Salzer, Elisabeth;
    • Racek, Tomas;
    • Mönch, Sebastian;
    • Garncarz, Wojciech;
    • Gertz, E Michael;
    • Schäffer, Alejandro A;
    • Antonopoulos, Aristotelis;
    • Haslam, Stuart M;
    • Schieck, Lena;
    • Puchałka, Jacek;
    • Diestelhorst, Jana;
    • Appaswamy, Giridharan;
    • Lescoeur, Brigitte;
    • Giambruno, Roberto;
    • Bigenzahn, Johannes W;
    • Elling, Ulrich;
    • Pfeifer, Dietmar;
    • Conde, Cecilia Domínguez
    Publication type:
    Article
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    Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 1028, doi. 10.1038/ng.3070
    By:
    • Wirnsberger, Gerald;
    • Zwolanek, Florian;
    • Stadlmann, Johannes;
    • Tortola, Luigi;
    • Liu, Shang Wan;
    • Perlot, Thomas;
    • Järvinen, Päivi;
    • Dürnberger, Gerhard;
    • Kozieradzki, Ivona;
    • Sarao, Renu;
    • De Martino, Alba;
    • Boztug, Kaan;
    • Mechtler, Karl;
    • Kuchler, Karl;
    • Klein, Christoph;
    • Elling, Ulrich;
    • Penninger, Josef M
    Publication type:
    Article
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    HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

    Published in:
    Nature Genetics, 2007, v. 39, n. 1, p. 86, doi. 10.1038/ng1940
    By:
    • Klein, Christoph;
    • Grudzien, Magda;
    • Appaswamy, Giridharan;
    • Germeshausen, Manuela;
    • Sandrock, Inga;
    • Schäffer, Alejandro A.;
    • Rathinam, Chozhavendan;
    • Boztug, Kaan;
    • Schwinzer, Beate;
    • Rezaei, Nima;
    • Bohn, Georg;
    • Melin, Malin;
    • Carlsson, Göran;
    • Fadeel, Bengt;
    • Dahl, Niklas;
    • Palmblad, Jan;
    • Henter, Jan-Inge;
    • Zeidler, Cornelia;
    • Grimbacher, Bodo;
    • Welte, Karl
    Publication type:
    Article
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    Extended Phenotype of VPS45 Defect with Additional Features of Combined Immunodeficiency and Neuromotor Developmental Delay Along with Severe Congenital Neutropenia.

    Published in:
    Asthma Allergy Immunology / Astim Allerji Immunoloji, 2024, v. 22, n. 3, p. 269, doi. 10.21911/aai.2024.617
    By:
    • BAL, Sevgi KOSTEL;
    • ISLAMOGLU, Candan;
    • HASKOLOGLU, Sule;
    • KARAMAN, Sait;
    • JIMENEZ-HEREDIA, Raul;
    • ROCA, Anna SEGARRA;
    • GENEL, Ferah;
    • GULEZ, Nesrin;
    • AYTEKIN, Caner;
    • BOZTUG, Kaan;
    • DOGU, Figen;
    • IKINCIOGULLARI, Aydan
    Publication type:
    Article
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    LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

    Published in:
    Acta Medica Iranica, 2016, v. 54, n. 10, p. 620
    By:
    • Shokri, Sima;
    • Nabavi, Mohammad;
    • Hirschmugl, Tatjana;
    • Aghamohammadi, Asghar;
    • Arshi, Saba;
    • Bemanian, Mohamad Hassan;
    • Fallahpour, Morteza;
    • Molatefi, Rasool;
    • Rekabi, Mahsa;
    • Eslami, Narges;
    • Ahmadian, Javad;
    • Darabi, Kian;
    • Sedighi, Gholam Reza;
    • Monajemzadeh, Maryam;
    • Modaresi, Mohammadreza;
    • Parvaneh, Nima;
    • Boztug, Kaan;
    • Rezaei, Nima
    Publication type:
    Article
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    Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

    Published in:
    Scandinavian Journal of Immunology, 2022, v. 95, n. 4, p. 1, doi. 10.1111/sji.13136
    By:
    • Velez‐Tirado, Natalia;
    • Yamazaki‐Nakashimada, Marco Antonio;
    • Lopez Valentín, Enrique;
    • Partida‐Gaytan, Armando;
    • Scheffler‐Mendoza, Selma C.;
    • Chaia Semerena, Genny M.;
    • Alvarez‐Cardona, Aristóteles;
    • Suárez Gutiérrez, Marcos Alejandro;
    • Medina Torres, Edgar Alejandro;
    • Baeza Capetillo, Patricia;
    • Hirschmugl, Tatjana;
    • Garncarz, Wojciech;
    • Espinosa‐Padilla, Sara Elva;
    • Aguirre Hernández, Jesús;
    • Klein, Christoph;
    • Boztug, Kaan;
    • Lugo Reyes, Saul O.
    Publication type:
    Article
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    Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.

    Published in:
    British Journal of Haematology, 2023, v. 203, n. 4, p. 678, doi. 10.1111/bjh.19061
    By:
    • Novak, Wolfgang;
    • Berner, Jakob;
    • Svaton, Michael;
    • Jimenez‐Heredia, Raul;
    • Segarra‐Roca, Anna;
    • Frohne, Alexandra;
    • Guiliani, Sarah;
    • Rouhani, David;
    • Eder, Sebastian K.;
    • Rottal, Arno;
    • Trapin, Doris;
    • Scheuchenstuhl, Anja;
    • Pickl, Winfried F.;
    • Simonitsch‐Klupp, Ingrid;
    • Kager, Leo;
    • Boztug, Kaan
    Publication type:
    Article
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    Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline.

    Published in:
    European Journal of Immunology, 2020, v. 50, n. 10, p. 1432, doi. 10.1002/eji.202048713
    By:
    • Hanitsch, Leif;
    • Baumann, Ulrich;
    • Boztug, Kaan;
    • Burkhard‐Meier, Ulrike;
    • Fasshauer, Maria;
    • Habermehl, Pirmin;
    • Hauck, Fabian;
    • Klock, Gerd;
    • Liese, Johannes;
    • Meyer, Oliver;
    • Müller, Rainer;
    • Pachlopnik‐Schmid, Jana;
    • Pfeiffer‐Kascha, Dorothea;
    • Warnatz, Klaus;
    • Wehr, Claudia;
    • Wittke, Kirsten;
    • Niehues, Tim;
    • Bernuth, Horst
    Publication type:
    Article
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    Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0223-1
    By:
    • Kooij, Gijs;
    • Braster, Rens;
    • Koning, Jasper J.;
    • Laan, Lisa C.;
    • van Vliet, Sandra J.;
    • Los, Tamara;
    • Eveleens, Anne Marieke;
    • van der Pol, Susanne M. A.;
    • Förster-Waldl, Elisabeth;
    • Boztug, Kaan;
    • Belot, Alexandre;
    • Szilagyi, Katka;
    • van den Berg, Timo K.;
    • van Buul, Jaap D.;
    • van Egmond, Marjolein;
    • de Vries, Helga E.;
    • Cummings, Richard D.;
    • Dijkstra, Christine D.;
    • van Die, Irma
    Publication type:
    Article
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    Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

    Published in:
    Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
    By:
    • Tallgren, Antti;
    • Kager, Leo;
    • O'Grady, Gina;
    • Tuominen, Hannu;
    • Körkkö, Jarmo;
    • Kuismin, Outi;
    • Feucht, Martha;
    • Wilson, Callum;
    • Behunova, Jana;
    • England, Eleina;
    • Kurki, Mitja I.;
    • Palotie, Aarno;
    • Hallman, Mikko;
    • Kaarteenaho, Riitta;
    • Laccone, Franco;
    • Boztug, Kaan;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59930-9
    By:
    • Troester, Selina;
    • Eder, Thomas;
    • Wukowits, Nadja;
    • Piontek, Martin;
    • Fernández-Pernas, Pablo;
    • Schmoellerl, Johannes;
    • Haladik, Ben;
    • Manhart, Gabriele;
    • Allram, Melanie;
    • Maurer-Granofszky, Margarita;
    • Scheidegger, Nastassja;
    • Nebral, Karin;
    • Superti-Furga, Giulio;
    • Meisel, Roland;
    • Bornhauser, Beat;
    • Valent, Peter;
    • Dworzak, Michael N.;
    • Zuber, Johannes;
    • Boztug, Kaan;
    • Grebien, Florian
    Publication type:
    Article
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    G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

    Published in:
    Glycobiology, 2011, v. 21, n. 7, p. 914, doi. 10.1093/glycob/cwr023
    By:
    • Hayee, Bu'Hussain;
    • Antonopoulos, Aristotelis;
    • Murphy, Emma J;
    • Rahman, Farooq Z;
    • Sewell, Gavin;
    • Smith, Bradley N;
    • McCartney, Sara;
    • Furman, Mark;
    • Hall, Georgina;
    • Bloom, Stuart L;
    • Haslam, Stuart M;
    • Morris, Howard R;
    • Boztug, Kaan;
    • Klein, Christoph;
    • Winchester, Bryan;
    • Pick, Edgar;
    • Linch, David C;
    • Gale, Rosemary E;
    • Smith, Andrew M;
    • Dell, Anne
    Publication type:
    Article
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    B-cell signaling in persistent polyclonal B lymphocytosis (PPBL).

    Published in:
    Immunology & Cell Biology, 2016, v. 94, n. 9, p. 830, doi. 10.1038/icb.2016.46
    By:
    • Voelxen, Nadine;
    • Wehr, Claudia;
    • Gutenberger, Sylvia;
    • Keller, Baerbel;
    • Erlacher, Miriam;
    • Dominguez‐Conde, Cecilia;
    • Bertele, Daniela;
    • Emmerich, Florian;
    • Pantic, Milena;
    • Jennings, Stefanie;
    • Rakhmanov, Mirzokhid;
    • Foerster, Christian;
    • Martens, Uwe M;
    • Platzbecker, Uwe;
    • Peter, Hans‐Hartmut;
    • Fisch, Paul;
    • Boztug, Kaan;
    • Eibel, Hermann;
    • Salzer, Ulrich;
    • Warnatz, Klaus
    Publication type:
    Article
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    The Human Phenotype Ontology in 2024: phenotypes around the world.

    Published in:
    Nucleic Acids Research, 2024, v. 52, n. D1, p. D1333, doi. 10.1093/nar/gkad1005
    By:
    • Gargano, Michael A;
    • Matentzoglu, Nicolas;
    • Coleman, Ben;
    • Addo-Lartey, Eunice B;
    • Anagnostopoulos, Anna V;
    • Anderton, Joel;
    • Avillach, Paul;
    • Bagley, Anita M;
    • Bakštein, Eduard;
    • Balhoff, James P;
    • Baynam, Gareth;
    • Bello, Susan M;
    • Berk, Michael;
    • Bertram, Holli;
    • Bishop, Somer;
    • Blau, Hannah;
    • Bodenstein, David F;
    • Botas, Pablo;
    • Boztug, Kaan;
    • Čady, Jolana
    Publication type:
    Article
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    Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity.

    Published in:
    Science Translational Medicine, 2014, v. 6, n. 227, p. 1, doi. 10.1126/scitranslmed.3007280
    By:
    • Braun, Christian Jörg;
    • Boztug, Kaan;
    • Paruzynski, Anna;
    • Witzel, Maximilian;
    • Schwarzer, Adrian;
    • Rothe, Michael;
    • Modlich, Ute;
    • Beier, Rita;
    • Göhring, Gudrun;
    • Steinemann, Doris;
    • Fronza, Raffaele;
    • Ball, Claudia Regina;
    • Haemmerle, Reinhard;
    • Naundorf, Sonja;
    • Kühlcke, Klaus;
    • Rose, Martina;
    • Fraser, Chris;
    • Mathias, Liesl;
    • Ferrari, Rudolf;
    • Abboud, Miguel R.
    Publication type:
    Article
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    Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

    Published in:
    Science Immunology, 2021, v. 6, n. 65, p. 1, doi. 10.1126/sciimmunol.abe3981
    By:
    • Shahin, Tala;
    • Kuehn, Hye Sun;
    • Shoeb, Mohamed R.;
    • Gawriyski, Lisa;
    • Giuliani, Sarah;
    • Repiscak, Peter;
    • Hoeger, Birgit;
    • Petronczki, Özlem Yüce;
    • Bal, Sevgi Köstel;
    • Zoghi, Samaneh;
    • Dmytrus, Jasmin;
    • Seruggia, Davide;
    • Castanon\, Irinka;
    • Rezaei, Nima;
    • Varjosalo, Markku;
    • Halbritter, Florian;
    • Rosenzweig, Sergio D.;
    • Boztug, Kaan
    Publication type:
    Article
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