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Open AccessAuthor Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
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Article
Open AccessGWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown1 to be highly efficient for discovery of genetic associations2. Despite the advanced stage of ...
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Article
Methylprednisolone in adults hospitalized with COVID-19 pneumonia
To determine whether a 6-day course of methylprednisolone (MP) improves outcome in patients with severe SARS-CoV‑2 (Corona Virus Disease 2019 [COVID-19]).
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Article
Analysis of volumetric BMD in people with Down syndrome using DXA-based 3D modeling
We analyzed volumetric bone mineral density, by 3D analysis, in 76 people with Down syndrome and 76 controls. People with Down syndrome, particularly men, have a lower hip volumetric bone mineral density than ...
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Article
Epigenetics of Skeletal Diseases
Epigenetic mechanisms modify gene activity in a stable manner without altering DNA sequence. They participate in the adaptation to the environment, as well as in the pathogenesis of common complex disorders. W...
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Article
Non-synonymous WNT16 polymorphisms alleles are associated with different osteoarthritis phenotypes
Hereditary factors have a strong influence on osteoarthritis (OA). The Wnt pathway is involved in bone and cartilage homeostasis. Hence, we hypothesized that allelic variations of WNT16 could influence the OA ...
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Article
Epigenetic Regulation of Sost/sclerostin Expression
Sclerostin, encoded by the gene Sost, is a regulatory glycoprotein produced by mature osteocytes in bone. Findings in animals and humans revealed that Sost/sclerostin deficiency results in increased bone densi...
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Article
The Epigenome at the Crossroad Between Social Factors, Inflammation, and Osteoporosis Risk
Both genetic and environmental factors are involved in the pathogenesis of osteoporosis and other skeletal disorders. Epidemiological studies have revealed an influence of a variety of social factors, includin...
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Article
Generation and characterization of two immortalized human osteoblastic cell lines useful for epigenetic studies
Different model systems using osteoblastic cell lines have been developed to help understand the process of bone formation. Here, we report the establishment of two human osteoblastic cell lines obtained from ...
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Article
Indel analysis by droplet digital PCR: a sensitive method for DNA mixture detection and chimerism analysis
Several methods have been developed to determinate genetic profiles from a mixed samples and chimerism analysis in transplanted patients. The aim of this study was to explore the effectiveness of using the dro...
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Article
The Influence of Nitrogen Dioxide on Arrhythmias in Spain and Its Relationship with Atmospheric Circulation
Epidemiological studies suggest that increased ambient NO2 concentrations are associated with cardiovascular disease. However, none of them have examined the association between ambient air pollution and cardiac ...
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Article
Osterix and RUNX2 are Transcriptional Regulators of Sclerostin in Human Bone
Sclerostin, encoded by the SOST gene, works as an inhibitor of the Wnt pathway and therefore is an important regulator of bone homeostasis. Due to its potent action as an inhibitor of bone formation, blocking scl...
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Article
Open AccessAge-associated hydroxymethylation in human bone-marrow mesenchymal stem cells
Age-associated changes in genomic DNA methylation have been primarily attributed to 5-methylcytosine (5mC). However, the recent discovery of 5-hydroxymethylcytosine (5hmC) suggests that this epigenetic mark mi...
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Article
Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study
Atraumatic subtrochanteric and diaphyseal (atypical) femoral fractures are a rare, but important adverse event in patients treated with potent anti-resortive agents. The mechanisms involved are unknown and par...
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Analysis of the Bone MicroRNome in Osteoporotic Fractures
Osteoporosis causes important morbidity among elderly individuals. Fragility fractures, and especially hip fractures, have a particularly negative impact on the patients’ quality of life. The role of epigeneti...
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Article
Polymorphisms of the farnesyl diphosphate synthase gene modulate bone changes in response to atorvastatin
Although their primary therapeutic indications are different, aminobisphosphonates and statins target enzymes in the mevalonate pathway, which is critical for bone homeostasis. Previous studies have shown tha...
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Article
A Sclerostin Super-Producer Cell Line Derived from the Human Cell Line SaOS-2: A New Tool for the Study of the Molecular Mechanisms Driving Sclerostin Expression
Sclerostin, the product of the SOST gene, is a key regulator of bone homeostasis. Sclerostin interferes with the Wnt signalling pathway and, therefore, has a negative effect on bone formation. Although the imp...
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Article
Nitric Oxide is Involved in the Down-regulation of SOST Expression Induced by Mechanical Loading
Mechanical stimulation reduces sclerostin expression in rodents. However, few data are available about the effect of physical stimuli in human systems. Recently we observed that the demethylating agent AzadC i...
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Pharmacogenomics of Osteoporotic Fractures
Osteoporosis is a prevalent disease that typically reduces bone strength and predisposes to fractures. It is a multifactorial disorder resulting from the interaction of genetic and acquired factors. Candidate ...
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Article
Wnt-related genes and large-joint osteoarthritis: association study and replication
Osteoarthritis (OA) has a strong genetic component, and experimental evidence suggests the involvement of the Wnt pathway in its pathogenesis. Hence, we explored the association of common single nucleotide pol...
