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A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro

article

A New Gene for Susceptibility to Paget's Disease of Bone and for Multisystem Proteinopathy

scientific article published on 26 June 2020

A Systematic Review of the Role of Vitamin D on Neuromuscular Remodelling Following Exercise and Injury

artículo científico

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

artículo científico publicado en 2013

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

artículo científico publicado en 2014

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

artículo científico publicado en 2011

A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture

artículo científico publicado en 2009

A variant in MCF2L is associated with osteoarthritis

artículo científico publicado en 2011

ABD56 causes osteoclast apoptosis by inhibiting the NFkappaB and ERK pathways

artículo científico publicado en 2008

Aminobisphosphonates cause osteoblast apoptosis and inhibit bone nodule formation in vitro.

artículo científico publicado en 2008

Aminobisphosphonates versus other active treatment for Paget's disease of the bone in adults

artículo científico publicado en 2004

An integrated approach to consumer representation and involvement in a multicentre randomized controlled trial

artículo científico publicado en 2005

Analysis of Transcriptional Regulation in Bone Cells

scientific article published on 01 January 2019

Antibody Response to Paramyxoviruses in Paget's Disease of Bone

artículo científico publicado en 2017

Assessment of gene-by-sex interaction effect on bone mineral density

artículo científico publicado en 2012

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

artículo científico publicado en 2014

Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture.

artículo científico publicado en 2004

Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis

artículo científico publicado en 2002

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5

article

Autoantibodies to Osteoprotegerin are Associated with Low Hip Bone Mineral Density and History of Fractures in Axial Spondyloarthritis: A Cross-Sectional Observational Study.

artículo científico publicado en 2017

Autoantibodies to osteoprotegerin are associated with increased bone resorption in rheumatoid arthritis

artículo científico publicado en 2015

Beta2-adrenoreceptor ligands regulate osteoclast differentiation in vitro by direct and indirect mechanisms

artículo científico publicado en 2008

Bisphosphonates for Paget's disease of bone in adults

artículo científico publicado en 2014

Bisphosphonates for Paget's disease of bone in adults.

artículo científico publicado en 2017

Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta-Analysis of Placebo-Controlled Trials

article

Bone Cell-autonomous Contribution of Type 2 Cannabinoid Receptor to Breast Cancer-induced Osteolysis

artículo científico publicado en 2015

Cannabinoid Receptor Type 1 Protects against Age- Related Osteoporosis by Regulating Osteoblast and Adipocyte Differentiation in Marrow Stromal Cells

artículo científico publicado en 2009

Cannabinoids and bone: friend or foe?

artículo científico publicado en 2010

Casting new light on the sunshine vitamin

artículo científico publicado en 2013

Characterisation of osteoprotegerin autoantibodies in coeliac disease

artículo científico

Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort

artículo científico publicado en 2020

Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.

artículo científico publicado en 2004

Clinical Guidelines on Paget's Disease of Bone

scientific article published on 25 October 2019

Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy

artículo científico publicado en 2008

Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

artículo científico

Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report

artículo científico publicado en 2018

Clinical presentation of Paget's disease: evaluation of a contemporary cohort and systematic review

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Combined deficiency of the Cnr1 and Cnr2 receptors protects against age-related bone loss by osteoclast inhibition

artículo científico publicado en 2017

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

artículo científico publicado en 2013

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

artículo científico publicado en 2019

Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders

artículo científico publicado en 2006

Correction: Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study

artículo científico publicado en 2006

Corrigendum to “ABD56 causes osteoclast apoptosis by inhibiting the NFκB and ERK pathways” [Biochem. Biophys. Res. Commun. 371 (2008) 94–98]

scholarly article published in Biochemical and Biophysical Research Communications

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

artículo científico publicado en 2014

Determinants of stress fracture risk in United States Military Academy cadets

artículo científico

Development and Characterization of Biphenylsulfonamides as Novel Inhibitors of Bone Resorption

article

Development of triarylsulfonamides as novel anti-inflammatory agents

article

Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline

artículo científico publicado en 2019

Differential Genetic Effects of ESR1 Gene Polymorphisms on Osteoporosis Outcomes

scientific article published in The Journal of the American Medical Association

Discontinuation of Denosumab therapy for osteoporosis: A systematic review and position statement by ECTS.

artículo científico

Discovery of biphenylketones as dual modulators of inflammation and bone loss.

artículo científico publicado en 2010

Disentangling the genetics of lean mass

article

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

scientific article published on 01 October 2002

Effect of Alendronic Acid on Fracture Healing: A Multicenter Randomized Placebo-Controlled Trial

artículo científico publicado en 2019

Epidemiology of Paget's disease of bone: a systematic review and meta-analysis of secular changes.

artículo científico

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

artículo científico publicado en 2017

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

artículo científico publicado en 2012

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

artículo científico publicado en 2005

Evolution of understanding of genetics of Paget's disease of bone and related diseases

artículo científico publicado en 2004

Focal and Osteosclerotic Bone Diseases

scientific article published on 09 May 2019

Fracture risk and management of discontinuation of denosumab therapy: a systematic review and position statement by ECTS

artículo científico publicado en 2020

Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability

artículo científico publicado en 2006

Genetic and environmental determinants of peak bone mass in young men and women.

artículo científico publicado en 2002

Genetic background modifies the effects of type 2 cannabinoid receptor deficiency on bone mass and bone turnover

artículo científico publicado en 2013

Genetic determinants of susceptibility to osteoporosis

artículo científico publicado en 2003

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

artículo científico publicado en 2010

Genetics and osteoporosis.

artículo científico publicado en 2006

Genetics of Paget's disease of bone

artículo científico publicado en 2014

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

artículo científico publicado en 2011

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

artículo científico publicado en 2012

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

artículo científico publicado en 2003

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

artículo científico publicado en 2012

Guidelines for diagnosis and management of Paget's disease of bone in Japan

artículo científico publicado en 2006

Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.

artículo científico publicado en 2006

Harm, benefit and costs associated with low-dose glucocorticoids added to the treatment strategies for rheumatoid arthritis in elderly patients (GLORIA trial): study protocol for a randomised controlled trial

artículo científico publicado en 2018

Heavy Cannabis Use Is Associated With Low Bone Mineral Density and an Increased Risk of Fractures

artículo científico publicado en 2016

How Basic Science Discoveries Have Shaped the Treatment of Bone and Mineral Disorders

artículo científico publicado en 2017

Identification of a Major Locus for Paget's Disease on Chromosome 10p13 in Families of British Descent

article

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

artículo científico publicado en 2017

Identification of biphenylcarboxylic acid derivatives as a novel class of bone resorption inhibitors.

artículo científico publicado en 2004

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

artículo científico publicado en 2012

Identification of novel biphenyl carboxylic acid derivatives as novel antiresorptive agents that do not impair parathyroid hormone-induced bone formation

artículo científico publicado en 2008

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

artículo científico publicado en 2007

Identification of small molecule inhibitors of RANKL and TNF signalling as anti-inflammatory and antiresorptive agents in mice

artículo científico publicado en 2013

Influence of LRP5 Polymorphisms on Normal Variation in BMD

article

Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

scientific article published on 23 September 2005

LRP5 Polymorphisms and response to risedronate treatment in osteoporotic men.

artículo científico publicado en 2009

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

artículo científico publicado en 2017

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

artículo científico publicado en 2008

Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study

artículo científico publicado en 2007

Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study

artículo científico publicado en 2006

Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women

artículo científico publicado en 2007

Letter to the Editor: The Endocrine Society Clinical Practice Guidelines on Paget's Disease: Many Recommendations Are Not Evidence Based

artículo científico publicado en 2015

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

artículo científico publicado en 2018

Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women

artículo científico publicado en 2002

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study.

artículo científico publicado en 2005

Long-Term Effects of Teriparatide Followed by Antiresorptive Therapy on Clinical Outcomes in Patients with Severe Spinal Osteoporosis

artículo científico publicado en 2019

Long-Term Randomized Trial of Intensive Versus Symptomatic Management in Paget's Disease of Bone: The PRISM-EZ Study

artículo científico publicado en 2017

Long-term cardiovascular safety of febuxostat compared with allopurinol in patients with gout (FAST): a multicentre, prospective, randomised, open-label, non-inferiority trial

artículo científico publicado en 2020

Loss of Ubiquitin-Binding Associated With Paget's Disease of Bone p62 (SQSTM1) Mutations

article

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

artículo científico publicado en 2020

Maintaining the trust of physicians and the public in the medical literature: report of a task force on scientific publishing of clinical trials.

artículo científico publicado en 2007

Meaning behind measurement: self-comparisons affect responses to health-related quality of life questionnaires

artículo científico publicado en 2009

Mechanisms of disease: genetics of Paget's disease of bone and related disorders

artículo científico publicado en 2006

Medical Management of Patients After Atypical Femur Fractures: a Systematic Review and Recommendations From the European Calcified Tissue Society

scientific article published on 01 May 2020

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

artículo científico publicado en 2010

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

artículo científico publicado en 2007

Modulation of strain-specific differences in gene expression by cannabinoid type 2 receptor deficiency

artículo científico publicado en 2013

Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone

artículo científico publicado en 2007

Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals

artículo científico publicado en 2010

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

article

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone

artículo científico publicado en 2010

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

artículo científico publicado en 2012

Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2.

artículo científico publicado en 2016

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences

artículo científico publicado en 2004

Optineurin Negatively Regulates Osteoclast Differentiation by Modulating NF-κB and Interferon Signaling: Implications for Paget's Disease

artículo científico publicado en 2015

Osteoporosis Associated with Neutralizing Autoantibodies against Osteoprotegerin

article

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

article

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

artículo científico publicado en 2014

Paradoxical effects of JZL184, an inhibitor of monoacylglycerol lipase, on bone remodelling in healthy and cancer-bearing mice

scientific article published on 29 May 2019

Pathogenesis and management of Paget's disease of bone.

artículo científico publicado en 2008

Pathogenesis of Paget disease of bone.

artículo científico publicado en 2012

Patient-Reported Outcomes in Rheumatoid Arthritis

article

Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone

scientific article published on 25 September 2020

Pharmacologic inhibitors of IkappaB kinase suppress growth and migration of mammary carcinosarcoma cells in vitro and prevent osteolytic bone metastasis in vivo

artículo científico publicado en 2009

Phenotype Presentation of Hypophosphatemic Rickets in Adults

artículo científico publicado en 2010

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene

artículo científico publicado en 2003

Polymorphisms of the CLCN7 gene are associated with BMD in women

artículo científico publicado en 2005

Prevalence and clinical prediction of osteoporosis in a contemporary cohort of patients with rheumatoid arthritis

artículo científico publicado en 2014

Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis.

artículo científico publicado en 2009

Protocol of the Febuxostat versus Allopurinol Streamlined Trial (FAST): a large prospective, randomised, open, blinded endpoint study comparing the cardiovascular safety of allopurinol and febuxostat in the management of symptomatic hyperuricaemia

artículo científico publicado en 2014

RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index

artículo científico publicado en 2004

Raman Spectroscopic Analysis of Fingernail Clippings Can Help Differentiate Between Postmenopausal Women Who Have and Have Not Suffered a Fracture

scientific article published on 31 May 2016

Raman spectroscopy as a predictive tool for monitoring osteoporosis therapy in a rat model of postmenopausal osteoporosis.

artículo científico publicado en 2019

Raman spectroscopy predicts the link between claw keratin and bone collagen structure in a rodent model of oestrogen deficiency.

artículo científico publicado en 2017

Randomized trial of intensive bisphosphonate treatment versus symptomatic management in Paget's disease of bone

artículo científico publicado en 2010

Randomized trial of switching from prescribed non-selective non-steroidal anti-inflammatory drugs to prescribed celecoxib: the Standard care vs. Celecoxib Outcome Trial (SCOT).

artículo científico publicado en 2016

Rare Inherited forms of Paget's Disease and Related Syndromes

artículo científico publicado en 2019

Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance

artículo científico publicado en 2020

Recent insights into the pathogenesis of hyperuricaemia and gout

artículo científico publicado en 2009

Regulation of Bone Mass, Osteoclast Function, and Ovariectomy-Induced Bone Loss by the Type 2 Cannabinoid Receptor

scientific article published on 17 July 2008

Regulation of bone mass and bone turnover by neuronal nitric oxide synthase.

artículo científico publicado en 2004

Regulation of bone mass, bone loss and osteoclast activity by cannabinoid receptors

artículo científico publicado en 2005

Regulation of breast cancer induced bone disease by cancer-specific IKKβ.

artículo científico publicado en 2018

Response to: Effects of Alendronic Acid on Fracture Healing

scientific article published on 06 November 2019

Role of cannabinoids in the regulation of bone remodeling

artículo científico publicado en 2012

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

scientific journal article

Small molecule inhibitors of IkappaB kinase signaling inhibit osteoclast formation in vitro and prevent ovariectomy-induced bone loss in vivo

artículo científico publicado en 2010

Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

artículo científico publicado en 2004

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

artículo científico publicado en 2018

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

artículo científico publicado en 2015

Teriparatide treatment of severe osteoporosis reduces the risk of vertebral fractures compared with standard care in routine clinical practice

artículo científico publicado en 2013

The Reply

artículo científico publicado en 2017

The TRPV1 ion channel antagonist capsazepine inhibits osteoclast and osteoblast differentiation in vitro and ovariectomy induced bone loss in vivo

artículo científico publicado en 2010

The Type 2 Cannabinoid Receptor Regulates Bone Mass and Ovariectomy-Induced Bone Loss by Affecting Osteoblast Differentiation and Bone Formation

artículo científico publicado en 2011

The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis

artículo científico publicado en 2006

The biphenyl-carboxylate derivative ABD328 is a novel orally active antiresorptive agent.

artículo científico publicado en 2010

The effect of genome-wide association scan quality control on imputation outcome for common variants

artículo científico publicado en 2011

The influence of vitamin C on the outcome of distal radial fractures: a double-blind, randomized controlled trial.

artículo científico publicado en 2014

The nitrosylated flurbiprofen derivative HCT1026 inhibits cytokine-induced signalling through a novel mechanism of action

artículo científico publicado en 2008

The pro and con of measles virus in Paget's disease: con.

artículo científico publicado en 2002

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein

artículo científico publicado en 2002

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

artículo científico publicado en 2009

Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch

artículo científico publicado en 2008

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

artículo científico publicado en 2004

Up-titration of allopurinol in patients with gout

artículo científico

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

artículo científico publicado en 2015

Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

artículo científico publicado en 2019

Zoledronic acid prevents pagetic-like lesions and accelerated bone loss in the p62 mouse model of Paget's disease

artículo científico publicado en 2018