Plastin 3 in health and disease: a matter of balance

L Wolff, EA Strathmann, I Müller, D Mählich… - Cellular and Molecular …, 2021 - Springer
For a long time, PLS3 (plastin 3, also known as T-plastin or fimbrin) has been considered a
rather inconspicuous protein, involved in F-actin-binding and-bundling. However, in recent …

New insights into monogenic causes of osteoporosis

RE Mäkitie, A Costantini, A Kämpe, JJ Alm… - Frontiers in …, 2019 - frontiersin.org
Osteoporosis, characterized by deteriorated bone microarchitecture and low bone mineral
density, is a chronic skeletal disease with high worldwide prevalence. Osteoporosis related …

Early-onset osteoporosis

O Mäkitie, MC Zillikens - Calcified tissue international, 2022 - Springer
Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly.
It is very rare in children and young adults and the definition is not only based on a low BMD …

Bone fragility and osteoporosis in children and young adults

MM Formosa, MA Christou, O Mäkitie - Journal of Endocrinological …, 2024 - Springer
Osteoporosis is a metabolic bone disorder which increases fragility fracture risk. Elderly
individuals, especially postmenopausal women, are particularly susceptible to osteoporosis …

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

R Besio, CW Chow, F Tonelli, JC Marini… - The FEBS …, 2019 - Wiley Online Library
The limited accessibility of bone and its mineralized nature have restricted deep
investigation of its biology. Recent breakthroughs in identification of mutant proteins …

Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling

CL Schwebach, E Kudryashova, W Zheng, M Orchard… - Bone research, 2020 - nature.com
Mutations in actin-bundling protein plastin 3 (PLS3) emerged as a cause of congenital
osteoporosis, but neither the role of PLS3 in bone development nor the mechanisms …

Trio-based exome sequencing broaden the genetic spectrum in keratoconus

L Xu, K Yang, M Zhu, S Yin, Y Gu, Q Fan… - Experimental Eye …, 2023 - Elsevier
Keratoconus (KC) is a complex corneal disorder with genetic factors involving in its
pathogenesis. The genetic etiology of KC has not been fully elucidated. In this study, we …

Osteogenesis imperfecta in children

F Arshad, N Bishop - Bone, 2021 - Elsevier
Osteogenesis imperfecta (OI) is a disease characterised by altered bone tissue material
properties together with abnormal micro and macro-architecture and thus bone fragility …

Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23

RE Mäkitie, A Kämpe, A Costantini… - Journal of Bone and …, 2020 - academic.oup.com
Recent advancements in genetic research have uncovered new forms of monogenic
osteoporosis, expanding our understanding of the molecular pathways regulating bone …

Early‐onset osteoporosis: rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen

A Costantini, RE Mäkitie, MA Hartmann… - Journal of Bone and …, 2020 - academic.oup.com
ABSTRACT Early‐onset osteoporosis (EOOP), characterized by low bone mineral density
(BMD) and fractures, affects children, premenopausal women and men aged< 50 years …