Skip to main content

4 Result(s)

within MaryAnn Weis Remove this filter

and

  1. No Access

    Article

    HIF-1α metabolically controls collagen synthesis and modification in chondrocytes

    Endochondral ossification, an important process in vertebrate bone formation, is highly dependent on correct functioning of growth plate chondrocytes1. Proliferation of these cells determines longitudinal bone gr...

    Steve Stegen, Kjell Laperre, Guy Eelen, Gianmarco Rinaldi, Peter Fraisl… in Nature (2019)

  2. Article

    Open Access

    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

    Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations...

    Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat… in Nature Communications (2016)

    Download PDF (1751 KB) View Article

  3. Article

    Correction: Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    Nat. Genet. 39, 359–365 (2007); published online 4 February 2007; corrected after print 26 June 2008 In the version of this article initially published, the nucleotide positions of the mutations in the LEPRE1 ...

    Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis… in Nature Genetics (2008)

    Download PDF (362 KB) View Article

  4. No Access

    Article

    Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone diseas...

    Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis… in Nature Genetics (2007)