Genetics and epigenetics of bone remodeling and metabolic bone diseases

L Oton-Gonzalez, C Mazziotta, MR Iaquinta… - International Journal of …, 2022 - mdpi.com
Bone metabolism consists of a balance between bone formation and bone resorption, which
is mediated by osteoblast and osteoclast activity, respectively. In order to ensure bone …

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 …

Evaluating patients for secondary causes of osteoporosis

EM Lewiecki - Current Osteoporosis Reports, 2022 - Springer
Abstract Purpose of Review This review provides suggestions for the evaluation of patients
with osteoporosis in order to assure that the diagnosis is correct, to identify potentially …

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis

C Caetano da Silva, T Edouard, M Fradin… - Human Molecular …, 2022 - academic.oup.com
Monogenic early onset osteoporosis (EOOP) is a rare disease defined by low bone mineral
density (BMD) that results in increased risk of fracture in children and young adults. Although …

Copy Number Variation and Osteoporosis

N Lovšin - Current osteoporosis reports, 2023 - Springer
Abstract Purpose of Review The purpose of this review is to summarize recent findings on
copy number variations and susceptibility to osteoporosis. Recent Findings Osteoporosis is …

Recent advances in acid sensing by G protein coupled receptors

MD Glitsch - Pflügers Archiv-European Journal of Physiology, 2024 - Springer
Abstract Changes in extracellular proton concentrations occur in a variety of tissues over a
range of timescales under physiological conditions and also accompany virtually all …

Strong genetic effects on bone mineral density in multiple locations with two different techniques: results from a cross-sectional twin study

M Piroska, DL Tarnoki, H Szabo, Z Jokkel, S Meszaros… - Medicina, 2021 - mdpi.com
Background and Objectives: Previous studies have demonstrated that risk of hip fracture is
at least partly heritable. The aim of this study was to determine the magnitude of the genetic …

An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family

N Puente, AI Vega, JL Hernandez… - Osteoporosis …, 2022 - Springer
We present a family with a rare mutation of the LRP6 gene and for the first time provide
evidence for its association with low bone mineral density. Introduction The Wnt pathway …

Idiopathic juvenile osteoporosis—a polygenic disorder?

E Wade, K Mulholland, I Shaw, T Cundy… - JBMR plus, 2024 - academic.oup.com
Idiopathic juvenile osteoporosis (IJO) is a rare condition presenting with vertebral and
metaphyseal fractures that affects otherwise healthy prepubertal children. Bone mineral …

Knockdown of the UL-16 binding protein 1 promotes osteoblast differentiation of human mesenchymal stem cells by activating the SMAD2/3 pathway

Z Lai, M Li, X Yang, Z Xian - BMC Musculoskeletal Disorders, 2024 - Springer
Osteoporosis is caused by the imbalance of osteoblasts and osteoclasts. The regulatory
mechanisms of differentially expressed genes (DEGs) in pathogenesis of osteoporosis are …