Article
Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2020
Mäkitie Riikka E, Hackl Matthias, Weigl Moritz, Frischer Amelie, Kämpe Anders, Costantini Alice, Grillari Johannes, Mäkitie Outi
Abstract excerpt
Plastin 3 (PLS3), encoded by PLS3, is a newly recognized regulator of bone metabolism, and mutations in the encoding gene result in severe childhood-onset osteoporosis. Because it is an X chromosomal gene, PLS3 mutation-positive males are typically more severely affected whereas females portray normal to increased skeletal fragility. Despite the severe skeletal pathology, conventional metabolic bone markers tend...
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