Associated Papers
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M et al.
Calcified Tissue International, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.
Wu Z et al.
Orphanet Journal of Rare Diseases, 2022
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis.
Loid P et al.
Frontiers in Endocrinology, 2022
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2020
Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.
Mäkitie RE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family.
Wang L et al.
Annals of Human Genetics, 2020
PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.
Mäkitie RE et al.
Frontiers in Endocrinology, 2020
Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.
Wang L et al.
Clinical Genetics, 2018
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18.
Chen T et al.
International Journal of Endocrinology, 2018
A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.
Lv F et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3.
Wesseling-Perry K et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study.
Välimäki VV et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.
Laine CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015