Found: 6

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  • SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

    Published in:
    Journal of Bone & Mineral Research, 2013, v. 28, n. 5, p. 1041, doi. 10.1002/jbmr.1849
    By:
    • Pangrazio, Alessandra;
    • Fasth, Anders;
    • Sbardellati, Andrea;
    • Orchard, Paul J;
    • Kasow, Kimberly A;
    • Raza, Jamal;
    • Albayrak, Canan;
    • Albayrak, Davut;
    • Vanakker, Olivier M;
    • De Moerloose, Barbara;
    • Vellodi, Ashok;
    • Notarangelo, Luigi D;
    • Schlack, Claire;
    • Strauss, Gabriele;
    • Kühl, Jörn-Sven;
    • Caldana, Elena;
    • Lo Iacono, Nadia;
    • Susani, Lucia;
    • Kornak, Uwe;
    • Schulz, Ansgar
    Publication type:
    Article

  • RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations.

    Published in:
    Journal of Bone & Mineral Research, 2012, v. 27, n. 2, p. 342, doi. 10.1002/jbmr.559
    By:
    • Pangrazio, Alessandra;
    • Cassani, Barbara;
    • Guerrini, Matteo M;
    • Crockett, Julie C;
    • Marrella, Veronica;
    • Zammataro, Luca;
    • Strina, Dario;
    • Schulz, Ansgar;
    • Schlack, Claire;
    • Kornak, Uwe;
    • Mellis, David J;
    • Duthie, Angela;
    • Helfrich, Miep H;
    • Durandy, Anne;
    • Moshous, Despina;
    • Vellodi, Ashok;
    • Chiesa, Robert;
    • Veys, Paul;
    • Lo Iacono, Nadia;
    • Vezzoni, Paolo
    Publication type:
    Article

  • Adhesion energy controls lipid binding-mediated endocytosis.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47109-7
    By:
    • Groza, Raluca;
    • Schmidt, Kita Valerie;
    • Müller, Paul Markus;
    • Ronchi, Paolo;
    • Schlack-Leigers, Claire;
    • Neu, Ursula;
    • Puchkov, Dmytro;
    • Dimova, Rumiana;
    • Matthaeus, Claudia;
    • Taraska, Justin;
    • Weikl, Thomas R.;
    • Ewers, Helge
    Publication type:
    Article

  • Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 5, p. 633, doi. 10.1038/ejhg.2014.109
    By:
    • Kolanczyk, Mateusz;
    • Krawitz, Peter;
    • Hecht, Jochen;
    • Hupalowska, Anna;
    • Miaczynska, Marta;
    • Marschner, Katrin;
    • Schlack, Claire;
    • Emmerich, Denise;
    • Kobus, Karolina;
    • Kornak, Uwe;
    • Robinson, Peter N;
    • Plecko, Barbara;
    • Grangl, Gernot;
    • Uhrig, Sabine;
    • Mundlos, Stefan;
    • Horn, Denise
    Publication type:
    Article

  • Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278
    By:
    • Kolanczyk, Mateusz;
    • Krawitz, Peter;
    • Hecht, Jochen;
    • Hupalowska, Anna;
    • Miaczynska, Marta;
    • Marschner, Katrin;
    • Schlack, Claire;
    • Emmerich, Denise;
    • Kobus, Karolina;
    • Kornak, Uwe;
    • Robinson, Peter N;
    • Plecko, Barbara;
    • Grangl, Gernot;
    • Uhrig, Sabine;
    • Mundlos, Stefan;
    • Horn, Denise
    Publication type:
    Article

  • Disrupted degradative sorting of TLR7 is associated with human lupus.

    Published in:
    Science Immunology, 2024, v. 9, n. 92, p. 1, doi. 10.1126/sciimmunol.adi9575
    By:
    • Mishra, Harshita;
    • Schlack-Leigers, Claire;
    • Lim, Ee Lyn;
    • Thieck, Oliver;
    • Magg, Thomas;
    • Raedler, Johannes;
    • Wolf, Christine;
    • Klein, Christoph;
    • Ewers, Helge;
    • Lee-Kirsch, Min Ae;
    • Meierhofer, David;
    • Hauck, Fabian;
    • Majer, Olivia
    Publication type:
    Article