(Q38799974)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

The genetics of bone mass and susceptibility to bone diseases (English)

1 reference

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31 March 2020

1

1 reference

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31 March 2020

author name string

Fernando Rivadeneira

series ordinal

2

1 reference

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31 March 2020

Mark L Johnson

series ordinal

3

1 reference

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31 March 2020

language of work or name

English

0 references

publication date

7 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Rheumatology

31 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

page(s)

323-334

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https://scigraph.springernature.com/pub.10.1038/nrrheum.2016.48

31 March 2020

exact match

0 references

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Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

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Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment

31 March 2020

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31 March 2020

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31 March 2020

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A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

31 March 2020

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Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

31 March 2020

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A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

31 March 2020

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Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

31 March 2020

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Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

31 March 2020

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31 March 2020

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Integrative analysis of GWASs, human protein interaction, and gene expression identified gene modules associated with BMDs

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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

31 March 2020

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Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

31 March 2020

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Genetic regulation of bone metabolism in the chicken: similarities and differences to Mammalian systems

31 March 2020

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Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map

31 March 2020

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HDAC5 controls MEF2C-driven sclerostin expression in osteocytes

31 March 2020

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31 March 2020

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Mef2c deletion in osteocytes results in increased bone mass.

31 March 2020

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A ChIP-seq-defined genome-wide map of MEF2C binding reveals inflammatory pathways associated with its role in bone density determination.

31 March 2020

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31 March 2020

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31 March 2020

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Identification of candidate gene regions in the rat by co-localization of QTLs for bone density, size, structure and strength

31 March 2020

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Using whole-genome sequences of the LG/J and SM/J inbred mouse strains to prioritize quantitative trait genes and nucleotides

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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A phenotypic screen in zebrafish identifies a novel small-molecule inducer of ectopic tail formation suggestive of alterations in non-canonical Wnt/PCP signaling

31 March 2020

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Identification of novel osteogenic compounds by an ex-vivo sp7:luciferase zebrafish scale assay

31 March 2020

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31 March 2020

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31 March 2020

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Large-effect pleiotropic or closely linked QTL segregate within and across ten US cattle breeds

31 March 2020

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Abundant pleiotropy in human complex diseases and traits.

31 March 2020

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Pleiotropy analysis of quantitative traits at gene level by multivariate functional linear models

31 March 2020

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

31 March 2020

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Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study

31 March 2020

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Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood

31 March 2020

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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

31 March 2020

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Genetic and environmental correlations between bone geometric parameters and body compositions

31 March 2020

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Lean mass predicts hip geometry in men and women with non-insulin-requiring type 2 diabetes mellitus

31 March 2020

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Bivariate Whole Genome Linkage Analysis for Femoral Neck Geometric Parameters and Total Body Lean Mass

31 March 2020

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Bivariate genome-wide linkage analysis of femoral bone traits and leg lean mass: Framingham study

31 March 2020

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Identification of homogeneous genetic architecture of multiple genetically correlated traits by block clustering of genome-wide associations

31 March 2020

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Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass

31 March 2020

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Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study

31 March 2020

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Endocrine crosstalk between muscle and bone

31 March 2020

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Lysine methylation of VCP by a member of a novel human protein methyltransferase family

31 March 2020

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A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity

31 March 2020

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How pleiotropic genetics of the musculoskeletal system can inform genomics and phenomics of aging

31 March 2020

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Successful skeletal aging: a marker of low fracture risk and longevity. The Study of Osteoporotic Fractures (SOF).

31 March 2020

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Mouse models of telomere dysfunction phenocopy skeletal changes found in human age-related osteoporosis

31 March 2020

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Muscles, exercise and obesity: skeletal muscle as a secretory organ

31 March 2020

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Myostatin gene deletion prevents glucocorticoid-induced muscle atrophy

31 March 2020

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A myostatin and activin decoy receptor enhances bone formation in mice

31 March 2020

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Haploinsufficiency of myostatin protects against aging-related declines in muscle function and enhances the longevity of mice

31 March 2020

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Muscle and bone, two interconnected tissues

31 March 2020

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The genetic pleiotropy of musculoskeletal aging.

31 March 2020

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Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

31 March 2020

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Bayesian methods for multivariate modeling of pleiotropic SNP associations and genetic risk prediction.

31 March 2020

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Grand challenges in evolutionary and population genetics: the importance of integrating epigenetics, genomics, modeling, and experimentation

31 March 2020

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Bioinformatics: Big data versus the big C.

31 March 2020

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Genetic and environmental variances of bone microarchitecture and bone remodeling markers: a twin study

31 March 2020

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Constructing the toolbox: Patient-specific genetic factors of altered fracture healing

31 March 2020

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31 March 2020

Next generation genetics

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Genetics of osteoporosis from genome-wide association studies: advances and challenges

31 March 2020

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The genetics of osteoporosis

31 March 2020

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Limited clinical utility of a genetic risk score for the prediction of fracture risk in elderly subjects

31 March 2020

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New goals for the U.S. Human Genome Project: 1998-2003.

31 March 2020

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An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed

31 March 2020

1 reference

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Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

31 March 2020

1 reference

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Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature

31 March 2020

1 reference

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A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Contribution of genetic and epigenetic mechanisms to Wnt pathway activity in prevalent skeletal disorders

31 March 2020

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

New functional aspects of the extracellular calcium-sensing receptor

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Taxonomy of rare genetic metabolic bone disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections

31 March 2020

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Notch regulation of bone development and remodeling and related skeletal disorders

31 March 2020

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JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

31 March 2020

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Lrp4 in osteoblasts suppresses bone formation and promotes osteoclastogenesis and bone resorption

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Genome-wide Association Studies for Osteoporosis: A 2013 Update

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Sp7/Osterix is involved in the up-regulation of the mouse pro-α1(V) collagen gene (Col5a1) in osteoblastic cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Toward understanding SOX9 function in chondrocyte differentiation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Genetics of Paget's disease of bone

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Wnt4 signaling prevents skeletal aging and inflammation by inhibiting nuclear factor-κB.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

A differential association of ALOX15 polymorphisms with bone mineral density in pre- and post-menopausal women

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2016.48

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

31 March 2020

1 reference

12 December 2020

IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study

1 reference

12 December 2020

Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus

1 reference

12 December 2020

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRRHEUM.2016.48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27052486%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 March 2020

1038893628

0 references

Fatcat ID

release_nlxkvzevqvbwxeobdkumfu6rx4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nlxkvzevqvbwxeobdkumfu6rx4

24 November 2022

mapped directly with Wikidata item

1 reference