A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

WNT signaling in bone homeostasis and disease: from human mutations to treatments

R Baron, M Kneissel - Nature medicine, 2013 - nature.com
Low bone mass and strength lead to fragility fractures, for example, in elderly individuals
affected by osteoporosis or children with osteogenesis imperfecta. A decade ago, rare …

Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function

O Leupin, E Piters, C Halleux, S Hu, I Kramer… - Journal of Biological …, 2011 - ASBMB
Humans lacking sclerostin display progressive bone overgrowth due to increased bone
formation. Although it is well established that sclerostin is an osteocyte-secreted bone …

[HTML][HTML] An insight into the paradigms of osteoporosis: From genetics to biomechanics

F Al Anouti, Z Taha, S Shamim, K Khalaf, L Al Kaabi… - Bone reports, 2019 - Elsevier
Considered as one of the major epidemics of the 21st century, osteoporosis affects
approximately 200 million people globally, with significant worldwide impact on rates of …

The transcriptional profile of mesenchymal stem cell populations in primary osteoporosis is distinct and shows overexpression of osteogenic inhibitors

P Benisch, T Schilling, L Klein-Hitpass, SP Frey… - 2012 - journals.plos.org
Primary osteoporosis is an age-related disease characterized by an imbalance in bone
homeostasis. While the resorptive aspect of the disease has been studied intensely, less is …

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

A Moayyeri, YH Hsu, D Karasik… - Human molecular …, 2014 - academic.oup.com
Quantitative ultrasound of the heel captures heel bone properties that independently predict
fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be …

Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy

W Yan, L Zheng, X Xu, Z Hao… - Proceedings of the …, 2022 - National Acad Sciences
Developmental dysplasia of the hip (DDH) is one of the most common congenital skeletal
malformations; however, its etiology remains unclear. Here, we conducted whole-exome …

Vitamin D: biology, action, and clinical implications

D Feldman, PJ Malloy, C Gross - Osteoporosis, 2001 - Elsevier
Publisher Summary Vitamin D is one of the major regulators of calcium homeostasis in the
body and is critically important for normal mineralization of bone. The active hormone, 1α, 25 …

A model for the pathogenesis of bisphosphonate-associated osteonecrosis of the jaw and teriparatide's potential role in its resolution

G Subramanian, HV Cohen, SYP Quek - Oral Surgery, Oral Medicine, Oral …, 2011 - Elsevier
OBJECTIVE: The objective of this study was to present a comprehensive model for the
pathogenesis of bisphosphonate-associated osteonecrosis of the jaw (BON). STUDY …

Exosomes and bone disease

SK Shan, X Lin, F Li, F Xu, JY Zhong… - Current …, 2019 - ingentaconnect.com
Exosomes, which mediate cell-to-cell communications and provide a novel insight into
information exchange, have drawn increasing attention in recent years. The homeostasis of …