Works matching AU Christiansen, Helena E.

Results: 8
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    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
    By:
    • Schwarze, Ulrike;
    • Cundy, Tim;
    • Pyott, Shawna M.;
    • Christiansen, Helena E.;
    • Hegde, Madhuri R.;
    • Bank, Ruud A.;
    • Pals, Gerard;
    • Ankala, Arunkanth;
    • Conneely, Karen;
    • Seaver, Laurie;
    • Yandow, Suzanne M.;
    • Raney, Ellen;
    • Babovic-Vuksanovic, Dusica;
    • Stoler, Joan;
    • Ben-Neriah, Ziva;
    • Segel, Reeval;
    • Lieberman, Sari;
    • Siderius, Liesbeth;
    • Al-Aqeel, Aida;
    • Hannibal, Mark
    Publication type:
    Article
    8

    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 8, p. 1595, doi. 10.1093/hmg/ddr037
    By:
    • Pyott, Shawna M.;
    • Schwarze, Ulrike;
    • Christiansen, Helena E.;
    • Pepin, Melanie G.;
    • Leistritz, Dru F.;
    • Dineen, Richard;
    • Harris, Catharine;
    • Burton, Barbara K.;
    • Angle, Brad;
    • Kim, Katherine;
    • Sussman, Michael D.;
    • Weis, MaryAnn;
    • Eyre, David R.;
    • Russell, David W.;
    • McCarthy, Kevin J.;
    • Steiner, Robert D.;
    • Byers, Peter H.
    Publication type:
    Article