Article
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2016
Mäkitie Riikka E, Haanpää Maria, Valta Helena, Pekkinen Minna, Laine Christine M, Lehesjoki Anna-Elina, Schalin-Jäntti Camilla, Mäkitie Outi
Abstract excerpt
WNT proteins comprise a 19-member glycoprotein family that act in several developmental and regenerative processes. In bone, WNT proteins regulate osteoblast differentiation and maintain bone health by activating the canonical WNT/β-catenin pathway. We reported a heterozygous missense mutation c.652T>G (p.C218G) in WNT1 exon 4 as the cause for severe early-onset, autosomal dominant osteoporosis. The initial study...
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