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    WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

    The authors found a heterozygous missense mutation in WNT1 in 10 family members with dominantly inherited, early-onset osteoporosis. In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, they identified a homozygous nonsense mutation in WNT1. They also found that in vitro, aberrant forms of the WNT1 protein had an impaired capacity to induce canonical WNT signaling. In mice, Wnt1 was expressed in cells of the B-lymphocyte lineage and hematopoietic progenitors. Furthermore, lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells.

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