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
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F et al.
American Journal of Human Genetics, 2023
The actin-bundling protein, PLS3, is part of the mechanoresponsive machinery that regulates osteoblast mineralization.
Chin SM et al.
Frontiers in Cell and Developmental Biology, 2023
Structural mechanism for bidirectional actin cross-linking by T-plastin.
Mei L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
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
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2020
Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling.
Schwebach CL et al.
Bone Research, 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
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019
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
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
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
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2016