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Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling.

著者 Mäkitie RE , Hackl M , Niinimäki R , Kakko S , Grillari J , Mäkitie O
J Clin Endocrinol Metab.2018 Mar 01 ; ():.
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WNT signaling is fundamental to bone health and its aberrant activation leads to skeletal pathologies. A 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.
PMID: 29506076 [PubMed - as supplied by publisher]
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