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ba0002lb2 | (1) | ICCBH2013

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

Laine Christine , Joeng Kyu Sang , Campeau Philippe , Kiviranta Riku , Tarkkonen Kati , Grover Monica , Lu James , Pekkinen Minna , Wessman Maija , Heino Terhi , Nieminen-Pihala Vappu , Laine Tero , Kroger Heikki , Cole William , Lehesjoki Anna-Elina , Krakow Deborah , Curry Cynthia , Cohn Daniel , Gibbs Richard , Lee Brendan , Makitie Outi

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...

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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

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