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 …
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 …
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
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 …
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 …
biology of adaptation to exercise. There is evidence from genetic epidemiology research that …
Bone circuitry and interorgan skeletal crosstalk
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 …
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 …
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 …
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 …
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 …
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 …
endoplasmic reticulum (ER) and endosomes in mammalian cells. Such contacts increase …