Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta

P Lapunzina, M Aglan, S Temtamy… - The American Journal of …, 2010 - cell.com
Osteogenesis imperfecta, or" brittle bone disease," is a type I collagen-related condition
associated with osteoporosis and increased risk of bone fractures. Using a combination of …

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

OME Albagha, MR Visconti, N Alonso, AL Langston… - Nature …, 2010 - nature.com
Paget's disease of bone (PDB) is a common disorder with a strong genetic component
characterized by focal increases in bone turnover, which in some cases is caused by …

Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density

A Chesi, Y Wagley, ME Johnson, E Manduchi… - Nature …, 2019 - nature.com
Osteoporosis is a devastating disease with an essential genetic component. GWAS have
discovered genetic signals robustly associated with bone mineral density (BMD), but not the …

[HTML][HTML] Genomics and genetics in the biology of adaptation to exercise

C Bouchard, T Rankinen… - Comprehensive Physiology, 2011 - ncbi.nlm.nih.gov
This chapter is devoted to the role of genetic variation and gene-exercise interactions in the
biology of adaptation to exercise. There is evidence from genetic epidemiology research that …

Bone circuitry and interorgan skeletal crosstalk

M Zaidi, SM Kim, M Mathew, F Korkmaz, F Sultana… - Elife, 2023 - elifesciences.org
The past decade has seen significant advances in our understanding of skeletal
homeostasis and the mechanisms that mediate the loss of bone integrity in disease. Recent …

RANKL/RANK control Brca1 mutation-driven mammary tumors

V Sigl, K Owusu-Boaitey, PA Joshi, A Kavirayani… - Cell research, 2016 - nature.com
Breast cancer is the most common female cancer, affecting approximately one in eight
women during their life-time. Besides environmental triggers and hormones, inherited …

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 …

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

JB Richards, FK Kavvoura, F Rivadeneira… - Annals of internal …, 2009 - acpjournals.org
Background: Osteoporosis is a highly heritable trait. Many candidate genes have been
proposed as being involved in regulating bone mineral density (BMD). Few of these findings …

Pubertal timing, bone acquisition, and risk of fracture throughout life

JP Bonjour, T Chevalley - Endocrine reviews, 2014 - academic.oup.com
Pubertal maturation plays a fundamental role in bone acquisition. In retrospective
epidemiological surveys in pre-and postmenopausal women, relatively later menarcheal …

ER–endosome contact sites: molecular compositions and functions

C Raiborg, EM Wenzel, H Stenmark - The EMBO journal, 2015 - embopress.org
Recent studies have revealed the existence of numerous contact sites between the
endoplasmic reticulum (ER) and endosomes in mammalian cells. Such contacts increase …