Associated Papers
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M et al.
Calcified Tissue International, 2024
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
Costa A et al.
Calcified Tissue International, 2024
X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.
Qiu C et al.
World Journal of Pediatrics : Wjp, 2022
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
35752817 (PubMed )
Supplement: 13023_2022_2380_MOESM1_ESM.docx
Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.
Fangazio M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2020
Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss.
Schwebach CL et al.
Frontiers in Cell and Developmental Biology, 2020
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 2019
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian M et al.
American Journal of Medical Genetics. Part A, 2018
Autism and heritable bone fragility: A true association?
Balasubramanian M et al.
Bone Reports, 2018
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