Article
Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling.
The Journal of clinical endocrinology and metabolism - 1 May 2018
Mäkitie Riikka E, Hackl Matthias, Niinimäki Riitta, Kakko Sakari, Grillari Johannes, Mäkitie Outi
Abstract excerpt
Context: WNT signaling is fundamental to bone health, and its aberrant activation leads to skeletal pathologies. The heterozygous missense mutation p.C218G in WNT1, a key WNT pathway ligand, leads to severe early-onset and progressive osteoporosis with multiple peripheral and spinal fractures. Despite the severe skeletal manifestations, conventional bone turnover markers are normal in mutation-positive patients....
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