Regulation of skeletal homeostasis
Landmark advances in skeletal biology have arisen mainly from the identification of disease-
causing mutations and the advent of rapid and selective gene-targeting technologies to …
causing mutations and the advent of rapid and selective gene-targeting technologies to …
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
Objectives To identify the genetic determinants of fracture risk and assess the role of 15
clinical risk factors on osteoporotic fracture risk. Design Meta-analysis of genome wide …
clinical risk factors on osteoporotic fracture risk. Design Meta-analysis of genome wide …
Parathyroid hormone signaling in osteocytes
MN Wein - Journal of Bone and Mineral Research Plus, 2018 - academic.oup.com
Osteocytes are the most abundant cell type in bone and play a central role in orchestrating
skeletal remodeling, in part by producing paracrine acting factors that in turn influence …
skeletal remodeling, in part by producing paracrine acting factors that in turn influence …
Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits
T Rafnar, B Gunnarsson, OA Stefansson… - Nature …, 2018 - nature.com
Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-
analysis of two genome-wide association studies of leiomyoma in European women (16,595 …
analysis of two genome-wide association studies of leiomyoma in European women (16,595 …
Signatures of long-term balancing selection in human genomes
Balancing selection maintains advantageous diversity in populations through various
mechanisms. Although extensively explored from a theoretical perspective, an empirical …
mechanisms. Although extensively explored from a theoretical perspective, an empirical …
An osteoporosis risk SNP at 1p36. 12 acts as an allele-specific enhancer to modulate LINC00339 expression via long-range loop formation
XF Chen, DL Zhu, M Yang, WX Hu, YY Duan… - The American Journal of …, 2018 - cell.com
Genome-wide association studies (GWASs) have reproducibly associated variants within
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …
Age at menarche and osteoporosis: a Mendelian randomization study
Purpose Traditional epidemiological studies suggest that there is an association between
age at menarche (years)(AAM) and bone mineral density (BMD) at the sites of the femoral …
age at menarche (years)(AAM) and bone mineral density (BMD) at the sites of the femoral …
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment
M Fiscaletti, A Biggin, B Bennetts, K Wong, J Briody… - Bone, 2018 - Elsevier
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by low bone
density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common …
density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common …
Expression quantitative trait locus study of bone mineral density GWAS variants in human osteoclasts
Osteoporosis is a complex disease with a strong genetic component. Genomewide
association studies (GWAS) have been very successful at identifying common genetic …
association studies (GWAS) have been very successful at identifying common genetic …
Multiple Functional Variants at 13q14 Risk Locus for Osteoporosis Regulate RANKL Expression Through Long‐Range Super‐Enhancer
DL Zhu, XF Chen, WX Hu, SS Dong… - Journal of Bone and …, 2018 - academic.oup.com
ABSTRACT RANKL is a key regulator involved in bone metabolism, and a drug target for
osteoporosis. The clinical diagnosis and assessment of osteoporosis are mainly based on …
osteoporosis. The clinical diagnosis and assessment of osteoporosis are mainly based on …