Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X‐linked osteoporosis
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DOI: 10.1111/cge.13081
Abstract: Mutations in Plastin‐3 (PLS3) have been identified as a cause of X‐linked osteoporosis. To reveal the molecular mechanism of PLS3 on osteoporosis, we characterized the p.Ala253_Leu254insAsn mutation in PLS3. We first identified Lymphocyte cytosolic protein… read more here.
Keywords: mutation pls3; linked osteoporosis; ala253 leu254insasn; leu254insasn mutation ... See more keywords
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis
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DOI: 10.3389/fendo.2022.954730
Abstract: Background The pathogenic mechanisms of early-onset osteoporosis caused by WNT1 and PLS3 mutations are incompletely understood and diagnostic biomarkers of these disorders are limited. Recently, lipocalin-2 has been recognized as an osteokine involved in bone… read more here.
Keywords: lipocalin; wnt1 pls3; pls3 osteoporosis; pls3 ... See more keywords