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 …
affected by osteoporosis or children with osteogenesis imperfecta. A decade ago, rare …
Validating therapeutic targets through human genetics
RM Plenge, EM Scolnick, D Altshuler - Nature reviews Drug discovery, 2013 - nature.com
More than 90% of the compounds that enter clinical trials fail to demonstrate sufficient safety
and efficacy to gain regulatory approval. Most of this failure is due to the limited predictive …
and efficacy to gain regulatory approval. Most of this failure is due to the limited predictive …
Meta-analysis methods for genome-wide association studies and beyond
E Evangelou, JPA Ioannidis - Nature Reviews Genetics, 2013 - nature.com
Meta-analysis of genome-wide association studies (GWASs) has become a popular method
for discovering genetic risk variants. Here, we overview both widely applied and newer …
for discovering genetic risk variants. Here, we overview both widely applied and newer …
[HTML][HTML] Bone composition: relationship to bone fragility and antiosteoporotic drug effects
AL Boskey - BoneKEy reports, 2013 - ncbi.nlm.nih.gov
The composition of a bone can be described in terms of the mineral phase, hydroxyapatite,
the organic phase, which consists of collagen type I, noncollagenous proteins, other …
the organic phase, which consists of collagen type I, noncollagenous proteins, other …
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
The Rotterdam Study: 2014 objectives and design update
A Hofman, SD Murad, CM van Duijn, OH Franco… - European journal of …, 2013 - Springer
Abstract The Rotterdam Study is a prospective cohort study ongoing since 1990 in the city of
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …
A genome-wide association study of the human metabolome in a community-based cohort
Because metabolites are hypothesized to play key roles as markers and effectors of
cardiometabolic diseases, recent studies have sought to annotate the genetic determinants …
cardiometabolic diseases, recent studies have sought to annotate the genetic determinants …
Osteoporosis–a current view of pharmacological prevention and treatment
S Das, JC Crockett - Drug design, development and therapy, 2013 - Taylor & Francis
Postmenopausal osteoporosis is the most common bone disease, associated with low bone
mineral density (BMD) and pathological fractures which lead to significant morbidity. It is …
mineral density (BMD) and pathological fractures which lead to significant morbidity. It is …
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes… - The American Journal of …, 2013 - cell.com
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
U Styrkarsdottir, G Thorleifsson, P Sulem… - Nature, 2013 - nature.com
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …