Genetics of osteoporosis: accelerating pace in gene identification and validation (Q37681343)

21 August 2017

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title

Genetics of osteoporosis: accelerating pace in gene identification and validation (English)

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21 August 2017

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Wen-Feng Li

1

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21 August 2017

Shu-Xun Hou

2

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21 August 2017

Bin Yu

3

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21 August 2017

Meng-Meng Li

4

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21 August 2017

Claude Férec

5

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21 August 2017

Jian-Min Chen

6

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21 August 2017

12 December 2009

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21 August 2017

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21 August 2017

127

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21 August 2017

249-285

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21 August 2017

3

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0773-z

21 August 2017

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Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women.

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

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12 December 2020

Genetic regulation of bone mass and susceptibility to osteoporosis

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Assessment of linkage and association of 13 genetic loci with bone mineral density

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Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025.

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12 December 2020

Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study

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12 December 2020

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

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12 December 2020

Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis

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12 December 2020

Estrogen receptor beta polymorphisms are associated with bone mass in women and men: the Framingham Study.

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12 December 2020

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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12 December 2020

Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study

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12 December 2020

Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.

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12 December 2020

Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men.

1 reference

12 December 2020

Linkage of osteoporosis to chromosome 20p12 and association to BMP2

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12 December 2020

LRP6 mutation in a family with early coronary disease and metabolic risk factors

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12 December 2020

Association of low-density lipoprotein receptor-related protein 5 (LRP5) promoter SNP with peak bone mineral density in Chinese women

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12 December 2020

Targeted deletion of the sclerostin gene in mice results in increased bone formation and bone strength

1 reference

12 December 2020

New insights into the mechanisms of vitamin D action

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12 December 2020

Association with replication between estrogen-related receptor gamma (ESRRgamma) polymorphisms and bone phenotypes in women of European ancestry

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12 December 2020

Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction

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12 December 2020

Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II

1 reference

12 December 2020

Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women

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12 December 2020

Identification of a role for the ARHGEF3 gene in postmenopausal osteoporosis

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12 December 2020

Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women.

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12 December 2020

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

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12 December 2020

Strong association of de novo copy number mutations with autism

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12 December 2020

Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease

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12 December 2020

Cloning, characterization and chromosome mapping of the human SOX6 gene

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12 December 2020

Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women

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12 December 2020

In vivo genome-wide expression study on human circulating B cells suggests a novel ESR1 and MAPK3 network for postmenopausal osteoporosis

1 reference

12 December 2020

Human parathyroid hormone-(1-34) increases bone mass in ovariectomized and orchidectomized rats

1 reference

12 December 2020

1 reference

12 December 2020

Gene expression profiling in monocytes and SNP association suggest the importance of the STAT1 gene for osteoporosis in both Chinese and Caucasians

1 reference

12 December 2020

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

1 reference

12 December 2020

Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals

1 reference

12 December 2020

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

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12 December 2020

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

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12 December 2020

Regulation of osteoblastogenesis and bone mass by Wnt10b

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12 December 2020

Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study

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12 December 2020

Common variants in the GDF5-UQCC region are associated with variation in human height

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12 December 2020

Adiposity, estradiol, and genetic variants of steroid-metabolizing enzymes as determinants of bone mineral density

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12 December 2020

Bone mineral density and urine calcium excretion among subjects with and without nephrolithiasis

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12 December 2020

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development

1 reference

12 December 2020

Secreted frizzled-related protein 4 is a negative regulator of peak BMD in SAMP6 mice.

1 reference

12 December 2020

Vitamin D-binding protein gene microsatellite polymorphism influences BMD and risk of fractures in men

1 reference

12 December 2020

Human osteoclasts, not osteoblasts, deposit osteopontin onto resorption surfaces: an in vitro and ex vivo study of remodeling bone

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Use of a dense single nucleotide polymorphism map for in silico mapping in the mouse

1 reference

12 December 2020

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

1 reference

12 December 2020

Association of the aromatase gene alleles with BMD: epidemiological and functional evidence.

1 reference

12 December 2020

Proximal events in Wnt signal transduction

1 reference

12 December 2020

Severe osteoporosis in mice lacking osteoclastogenesis inhibitory factor/osteoprotegerin

1 reference

12 December 2020

Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease

1 reference

12 December 2020

Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction

1 reference

12 December 2020

Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1, 25-dihydroxyvitamin D3

1 reference

12 December 2020

The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample.

1 reference

12 December 2020

A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women

1 reference

12 December 2020

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

1 reference

12 December 2020

Smad6 inhibits signalling by the TGF-beta superfamily.

1 reference

12 December 2020

Prediction of bone density from vitamin D receptor alleles

1 reference

12 December 2020

Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on heritability estimates

1 reference

12 December 2020

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17

1 reference

12 December 2020

Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians

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12 December 2020

Heritable and life-style determinants of bone mineral density

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12 December 2020

Regulation of bone mass by Wnt signaling

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12 December 2020

Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency

1 reference

12 December 2020

Association between osteoprotegerin (OPG), receptor activator of nuclear factor-kappaB (RANK), and RANK ligand (RANKL) gene polymorphisms and circulating OPG, soluble RANKL levels, and bone mineral density in Korean postmenopausal women

1 reference

12 December 2020

Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes

1 reference

12 December 2020

Osteoblast-targeted expression of Sfrp4 in mice results in low bone mass.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

1 reference

12 December 2020

Is A163G polymorphism in the osteoprotegerin gene associated with heel velocity of sound in postmenopausal women?

1 reference

12 December 2020

Multilocus analysis of estrogen-related genes in Spanish postmenopausal women suggests an interactive role of ESR1, ESR2 and NRIP1 genes in the pathogenesis of osteoporosis

1 reference

12 December 2020

Association of the VDR Translation Start Site Polymorphism and Fracture Risk in Older Women

1 reference

12 December 2020

The expression of HMGA genes is regulated by their 3'UTR

1 reference

12 December 2020

A Whole-Genome Linkage Scan Suggests Several Genomic Regions Potentially Containing Quantitative Trait Loci for Osteoporosis

1 reference

12 December 2020

Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling

1 reference

12 December 2020

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

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12 December 2020

FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance

1 reference

12 December 2020

Further genetic evidence suggesting a role for the RhoGTPase-RhoGEF pathway in osteoporosis.

1 reference

12 December 2020

Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women

1 reference

12 December 2020

Association of estrogen receptor alpha gene polymorphisms with bone mineral density in Chinese women: a meta-analysis

1 reference

12 December 2020

Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6

1 reference

12 December 2020

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

1 reference

12 December 2020

The low density lipoprotein receptor-1, LRP1, interacts with the human frizzled-1 (HFz1) and down-regulates the canonical Wnt signaling pathway

1 reference

12 December 2020

Transcriptional profiling of immune system-related genes in postmenopausal osteoporotic versus non-osteoporotic human bone tissue.

1 reference

12 December 2020

Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males

1 reference

12 December 2020

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

1 reference

12 December 2020

The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations

1 reference

12 December 2020

Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein

1 reference

12 December 2020

Osteoprotegerin: a novel secreted protein involved in the regulation of bone density

1 reference

12 December 2020

LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.

1 reference

12 December 2020

Decreased bone mass and bone elasticity in mice lacking the transforming growth factor-beta1 gene

1 reference

12 December 2020

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

1 reference

12 December 2020

Identification and association analysis of single nucleotide polymorphisms in the human noggin (NOG) gene and osteoporosis phenotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

1 reference

12 December 2020

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.

1 reference

12 December 2020

A1330V variant of the low-density lipoprotein receptor-related protein 5 (LRP5) gene decreases Wnt signaling and affects the total body bone mineral density in Japanese women.

1 reference

12 December 2020

Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling

1 reference

12 December 2020

Tel-2 is a novel transcriptional repressor related to the Ets factor Tel/ETV-6

1 reference

12 December 2020

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

1 reference

12 December 2020

Contribution of the LRP5 gene to normal variation in peak BMD in women

1 reference

12 December 2020

Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.

1 reference

12 December 2020

Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist

1 reference

12 December 2020

Genome-wide association with bone mass and geometry in the Framingham Heart Study

1 reference

12 December 2020

How genomics has informed our understanding of the pathogenesis of osteoporosis

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12 December 2020

Association of the osteoprotegerin gene polymorphisms with bone mineral density in postmenopausal women.

1 reference

12 December 2020

Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening

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12 December 2020

Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians

1 reference

12 December 2020

Pathway-based approaches for analysis of genomewide association studies

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12 December 2020

Bone morphogenetic proteins signal through the transforming growth factor-beta type III receptor

1 reference

12 December 2020

Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures

1 reference

12 December 2020

LRP5 gene polymorphisms predict bone mass and incident fractures in elderly Australian women

1 reference

12 December 2020

Large-scale analysis of the human and mouse transcriptomes

1 reference

12 December 2020

A novel pathophysiological mechanism for osteoporosis suggested by an in vivo gene expression study of circulating monocytes

1 reference

12 December 2020

The effect of postmenopausal estrogen therapy on bone density in elderly women

1 reference

12 December 2020

Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture

1 reference

12 December 2020

Effects of continuous and intermittent administration and inhibition of resorption on the anabolic response of bone to parathyroid hormone

1 reference

12 December 2020

Eight genes are highly associated with BMD variation in postmenopausal Caucasian women

1 reference

12 December 2020

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

1 reference

12 December 2020

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

1 reference

12 December 2020

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation

1 reference

12 December 2020

Comparative analysis of haplotype association mapping algorithms

1 reference

12 December 2020

Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men

1 reference

12 December 2020

Effect of an aromatase inhibitor on bmd and bone turnover markers: 2-year results of the Anastrozole, Tamoxifen, Alone or in Combination (ATAC) trial (18233230)

1 reference

12 December 2020

Genetic determinants of bone mass in adults. A twin study

1 reference

12 December 2020

The influence of Lys3Asn polymorphism in the osteoprotegerin gene on bone mineral density in Chinese postmenopausal women.

1 reference

12 December 2020

Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women

1 reference

12 December 2020

Sequence variations in the osteoprotegerin gene promoter in patients with postmenopausal osteoporosis.

1 reference

12 December 2020

Female premenopausal fracture risk is associated with gc phenotype.

1 reference

12 December 2020

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

1 reference

12 December 2020

Influence of LRP5 Polymorphisms on Normal Variation in BMD

1 reference

12 December 2020

Different gene expression patterns in the bone tissue of aging postmenopausal osteoporotic and non-osteoporotic women

1 reference

12 December 2020

Relative impact of nucleotide and copy number variation on gene expression phenotypes

1 reference

12 December 2020

Mutations in FLNB cause boomerang dysplasia

1 reference

12 December 2020

Estrogen replacement therapy and fractures in older women. Study of Osteoporotic Fractures Research Group

1 reference

12 December 2020

Differential Genetic Effects of ESR1 Gene Polymorphisms on Osteoporosis Outcomes

1 reference

12 December 2020

Association of a single nucleotide polymorphism in the lipoxygenase ALOX15 5'-flanking region (-5229G/A) with bone mineral density

1 reference

12 December 2020

Genome-Wide Linkage Screen of Bone Mineral Density (BMD) in European Pedigrees Ascertained through a Male Relative with Low BMD Values: Evidence for Quantitative Trait Loci on 17q21–23, 11q12–13, 13q12–14, and 22q11

1 reference

12 December 2020

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

1 reference

12 December 2020

Accelerated, aging-dependent development of osteoarthritis in alpha1 integrin-deficient mice

1 reference

12 December 2020

Pathway-based genome-wide association analysis identified the importance of EphrinA-EphR pathway for femoral neck bone geometry

1 reference

12 December 2020

Weighting the effect of CYP19A gene in bone mineral density of postmenopausal women

1 reference

12 December 2020

Functional characterization of genetic variation in the Frizzled 1 (FZD1) promoter and association with bone phenotypes: more to the LRP5 story?

1 reference

12 December 2020

Filamin B mutations cause chondrocyte defects in skeletal development

1 reference

12 December 2020

Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population.

1 reference

12 December 2020

Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study.

1 reference

12 December 2020

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

1 reference

12 December 2020

A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).

1 reference

12 December 2020

Association between a variation in the phosphodiesterase 4D gene and bone mineral density

1 reference

12 December 2020

Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice

1 reference

12 December 2020

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

1 reference

12 December 2020

A common polymorphism in the 5'-untranslated region of the aromatase gene influences bone mass and fracture risk

1 reference

12 December 2020

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

1 reference

12 December 2020

T-1213C polymorphism of estrogen receptor beta is associated with low bone mineral density and osteoporotic fractures

1 reference

12 December 2020

Heart and liver defects and reduced transforming growth factor beta2 sensitivity in transforming growth factor beta type III receptor-deficient embryos

1 reference

12 December 2020

Single nucleotide polymorphisms in the human gene for osteoprotegerin are not related to bone mineral density or fracture in elderly women

1 reference

12 December 2020

RhoA and cytoskeletal disruption mediate reduced osteoblastogenesis and enhanced adipogenesis of human mesenchymal stem cells in modeled microgravity

1 reference

12 December 2020

Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women

1 reference

12 December 2020

osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification

1 reference

12 December 2020

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with peak bone mass in non-sedentary men: results from the Odense androgen study.

1 reference

12 December 2020

Osteocyte control of bone formation via sclerostin, a novel BMP antagonist

1 reference

12 December 2020

Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study

1 reference

12 December 2020

Nonreplication in genetic studies of complex diseases--lessons learned from studies of osteoporosis and tentative remedies

1 reference

12 December 2020

Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone

1 reference

12 December 2020

A microarray based identification of osteoporosis-related genes in primary culture of human osteoblasts

1 reference

12 December 2020

Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity

1 reference

12 December 2020

Biology of RANK, RANKL, and osteoprotegerin

1 reference

12 December 2020

BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study

1 reference

12 December 2020

Novel regulators of bone formation: molecular clones and activities

1 reference

12 December 2020

Polymorphisms of the CLCN7 gene are associated with BMD in women

1 reference

12 December 2020

Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women

1 reference

12 December 2020

Non-association between polymorphisms of the frizzled receptor genes and bone mineral density in postmenopausal Korean women

1 reference

12 December 2020

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

1 reference

12 December 2020

Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density

1 reference

12 December 2020

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

1 reference

12 December 2020

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

1 reference

12 December 2020

Strong association between polymorphisms in ANKH locus and skeletal size traits

1 reference

12 December 2020

Association of estrogen receptor beta gene polymorphism with bone mineral density

1 reference

12 December 2020

Associations between osteoprotegerin polymorphisms and bone mineral density: a meta-analysis.

1 reference

12 December 2020

Bone mass effects of a Smad6 gene polymorphism in Japanese postmenopausal women.

1 reference

12 December 2020

Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association

1 reference

12 December 2020

Association of an aromatase TTTA repeat polymorphism with circulating estrogen, bone structure, and biochemistry in older women

1 reference

12 December 2020

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women

1 reference

12 December 2020

Association of CA repeat polymorphism in estrogen receptor beta gene with postmenopausal osteoporosis in Chinese

1 reference

12 December 2020

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

1 reference

12 December 2020

Smad6/Smurf1 overexpression in cartilage delays chondrocyte hypertrophy and causes dwarfism with osteopenia

1 reference

12 December 2020

Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement

1 reference

12 December 2020

Molecular genetic studies of gene identification for osteoporosis: a 2004 update

1 reference

12 December 2020

Vitamin D receptor polymorphisms and falls among older adults living in the community: results from the ilSIRENTE study.

1 reference

12 December 2020

Global variation in copy number in the human genome

1 reference

12 December 2020

Relation of aromatase gene polymorphism and hormone replacement therapy to serum estradiol levels, bone mineral density, and fracture risk in early postmenopausal women

1 reference

12 December 2020

Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis

1 reference

12 December 2020

Gene prioritization through genomic data fusion

1 reference

12 December 2020

Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites.

1 reference

12 December 2020

Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36.

1 reference

12 December 2020

The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study

1 reference

12 December 2020

New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification

1 reference

12 December 2020

Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.

1 reference

12 December 2020

Association of gene polymorphisms and bone density in Japanese girls

1 reference

12 December 2020

Insights from the study of animals lacking functional estrogen receptor

1 reference

12 December 2020

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

1 reference

12 December 2020

Osteoprotegerin Lys3Asn polymorphism and the risk of fracture in older women.

1 reference

12 December 2020

A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women

1 reference

12 December 2020

Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men

1 reference

12 December 2020

A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density

1 reference

12 December 2020

In silico whole genome association scan for murine prepulse inhibition

1 reference

12 December 2020

A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study

1 reference

12 December 2020

Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men

1 reference

12 December 2020

Site and Gender Specificity of Inheritance of Bone Mineral Density

1 reference

12 December 2020

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 reference

12 December 2020

Bivariate genome-wide linkage analysis for traits BMD and AAM: effect of menopause on linkage signals

1 reference

12 December 2020

The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB.

1 reference

12 December 2020

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

1 reference

12 December 2020

No associations between OPG gene polymorphisms or serum levels and measures of osteoporosis in elderly Australian women

1 reference

12 December 2020

The transcription factors L-Sox5 and Sox6 are essential for cartilage formation

1 reference

12 December 2020

Cis- and trans-acting gene regulation is associated with osteoarthritis

1 reference

12 December 2020

Sex steroid hormone pathway genes and health-related measures in women of 4 races/ethnicities: the Study of Women's Health Across the Nation (SWAN)

1 reference

12 December 2020

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

1 reference

12 December 2020

A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: effects on bone metabolism.

1 reference

12 December 2020

Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women.

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

A common variant of HMGA2 is associated with adult and childhood height in the general population

1 reference

12 December 2020

Wnt but not BMP signaling is involved in the inhibitory action of sclerostin on BMP-stimulated bone formation

1 reference

12 December 2020

Is replication the gold standard for validating genome-wide association findings?

1 reference

12 December 2020

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

1 reference

12 December 2020

The Wnt antagonist secreted frizzled-related protein-1 is a negative regulator of trabecular bone formation in adult mice

1 reference

12 December 2020

Serum osteoprotegerin (OPG) and the A163G polymorphism in the OPG promoter region are related to peripheral measures of bone mass and fracture odds ratios.

1 reference

12 December 2020

Genetic studies in osteoporosis--the end of the beginning

1 reference

12 December 2020

Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women

1 reference

12 December 2020

Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density

1 reference

12 December 2020

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

1 reference

12 December 2020

Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians

1 reference

12 December 2020

Association of a -1997G-->T polymorphism of the collagen Ialpha1 gene with bone mineral density in postmenopausal Japanese women

1 reference

12 December 2020

Bone morphogenetic protein 7 (BMP7) gene polymorphisms are associated with inverse relationships between vascular calcification and BMD: the Diabetes Heart Study

1 reference

12 December 2020

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

1 reference

12 December 2020

Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro

1 reference

12 December 2020

Quantitative trait loci for biomechanical performance and femoral geometry in an intercross of recombinant congenic mice: restriction of the Bmd7 candidate interval

1 reference

12 December 2020

The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood.

1 reference

12 December 2020

High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men

1 reference

12 December 2020

The search for human osteoporosis genes

1 reference

12 December 2020

Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men

1 reference

12 December 2020

High bone density due to a mutation in LDL-receptor-related protein 5

1 reference

12 December 2020

SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor

1 reference

12 December 2020

In silico mapping of complex disease-related traits in mice.

1 reference

12 December 2020

A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality

1 reference

12 December 2020

Association of a high mobility group gene (HMGA2) variant with bone mineral density

1 reference

12 December 2020

The head inducer Cerberus is a multifunctional antagonist of Nodal, BMP and Wnt signals

1 reference

12 December 2020

Polymorphisms in the P450 c17 (17-hydroxylase/17,20-Lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women

1 reference

12 December 2020

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

1 reference

12 December 2020

Polymorphisms in the CYP19 and AR genes--relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy: The Danish Osteoporosis Prevention Study.

1 reference

12 December 2020

Regulation of bone mass in mice by the lipoxygenase gene Alox15

1 reference

12 December 2020

Common Genetic Variation of the Low-Density Lipoprotein Receptor-Related Protein 5 and 6 Genes Determines Fracture Risk in Elderly White Men

1 reference

12 December 2020

Association of the 163A/G and 1181G/C osteoprotegerin polymorphism with bone mineral density

1 reference

12 December 2020

Genetic variation in sex hormone genes influences heel ultrasound parameters in middle-aged and elderly men: results from the European Male Aging Study (EMAS).

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of functionally different RUNX2 P2 promoter alleles with BMD.

1 reference

12 December 2020

Genetic and environmental correlations between bone formation and bone mineral density: a twin study

1 reference

12 December 2020

Activation of peroxisome proliferator-activated receptor-gamma inhibits differentiation of preosteoblasts

1 reference

12 December 2020

Polymorphisms in ALOX12, but not ALOX15, Are Significantly Associated With BMD in Postmenopausal Women

1 reference

12 December 2020

The forkhead transcription factor Foxc2 stimulates osteoblast differentiation.

1 reference

12 December 2020

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites

1 reference

12 December 2020

Multiple genetic loci for bone mineral density and fractures

1 reference

12 December 2020

In silico genetics: identification of a functional element regulating H2-Ealpha gene expression

1 reference

12 December 2020

High bone mass in mice expressing a mutant LRP5 gene

1 reference

12 December 2020

Meta-analysis of genome-wide linkage studies for bone mineral density

1 reference

12 December 2020

The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis

1 reference

12 December 2020

Vitamin D binding protein, bone status and body composition in community-dwelling elderly men.

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of bone mineral density with a polymorphism of the peroxisome proliferator-activated receptor gamma gene: PPARgamma expression in osteoblasts

1 reference

12 December 2020

Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.

1 reference

12 December 2020

Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture

1 reference

12 December 2020

Association of bone dimensions with a parathyroid hormone gene polymorphism in women

1 reference

12 December 2020

Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal women

1 reference

12 December 2020

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene

1 reference

12 December 2020

Increased bone formation by prevention of osteoblast apoptosis with parathyroid hormone

1 reference

12 December 2020

Cannabinoid receptor type 2 gene is associated with human osteoporosis.

1 reference

12 December 2020

Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups

1 reference

12 December 2020

Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis

1 reference

12 December 2020

Bone morphogenetic proteins: multifunctional regulators of vertebrate development

1 reference

12 December 2020

Human genetics of osteoporosis

1 reference

12 December 2020

A polymorphic autoregulatory hormone response element in the human estrogen-related receptor alpha (ERRalpha) promoter dictates peroxisome proliferator-activated receptor gamma coactivator-1alpha control of ERRalpha expression.

1 reference

12 December 2020

Gene expression profile of the bone microenvironment in human fragility fracture bone

1 reference

12 December 2020

Denosumab for prevention of fractures in postmenopausal women with osteoporosis

1 reference

12 December 2020

Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis

1 reference

12 December 2020

Mouse Phenome Database (MPD)

1 reference

12 December 2020

To ERR in the estrogen pathway

1 reference

12 December 2020

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis

1 reference

12 December 2020

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

1 reference

12 December 2020

Genome-wide association analysis identifies 20 loci that influence adult height

1 reference

12 December 2020

Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women

1 reference

12 December 2020

Role of transforming growth factor-beta in bone remodeling

1 reference

12 December 2020

Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects

1 reference

12 December 2020

Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

1 reference

12 December 2020

New sequence variants associated with bone mineral density

1 reference

12 December 2020

CYP17 and breast cancer risk: the polymorphism in the 5' flanking area of the gene does not influence binding to Sp-1

1 reference

12 December 2020

Association of COLIA1 Sp1 alleles with defective bone nodule formation in vitro and abnormal bone mineralization in vivo

1 reference

12 December 2020

Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

An in vivo genome wide gene expression study of circulating monocytes suggested GBP1, STAT1 and CXCL10 as novel risk genes for the differentiation of peak bone mass

1 reference

12 December 2020

Variation in the BMP2 gene: bone mineral density and ultrasound in young adult and elderly women

1 reference

12 December 2020

Estrogen receptor alpha CA dinucleotide repeat polymorphism is associated with rate of bone loss in perimenopausal women and bone mineral density and risk of osteoporotic fractures in postmenopausal women

1 reference

12 December 2020

Association of molecular variants, haplotypes, and linkage disequilibrium within the human vitamin D-binding protein (DBP) gene with postmenopausal bone mineral density

1 reference

12 December 2020

Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3

1 reference

12 December 2020

A common promotor variant in the cytochrome P450c17alpha (CYP17) gene is associated with bioavailability testosterone levels and bone size in men.

1 reference

12 December 2020

Evidence from normal expression and targeted misexpression that bone morphogenetic protein (Bmp-4) plays a role in mouse embryonic lung morphogenesis

1 reference

12 December 2020

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

1 reference

12 December 2020

Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls

1 reference

12 December 2020

Polymorphisms in the estrogen receptor genes are associated with hip fractures in Chinese

1 reference

12 December 2020

Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis

1 reference

12 December 2020

Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

1 reference

12 December 2020

Adenomatous polyposis coli (APC), beta-catenin, and cadherin are expressed in human bone and cartilage

1 reference

12 December 2020

Challenges and standards in integrating surveys of structural variation

1 reference

12 December 2020

Aromatase gene and osteoporosis: relationship of ten polymorphic loci with bone mineral density

1 reference

12 December 2020

Segregation analysis and variance components analysis of bone mineral density in healthy families.

1 reference

12 December 2020

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

1 reference

12 December 2020

Bone morphogenetic protein-2 converts the differentiation pathway of C2C12 myoblasts into the osteoblast lineage

1 reference

12 December 2020

Effect of testosterone and estradiol in a man with aromatase deficiency

1 reference

12 December 2020

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

1 reference

12 December 2020

Differential effects of secreted frizzled-related proteins (sFRPs) on osteoblastic differentiation of mouse mesenchymal cells and apoptosis of osteoblasts

1 reference

12 December 2020

The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density

1 reference

12 December 2020

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

1 reference

12 December 2020

Vitamin D binding protein genotype and osteoporosis

1 reference

12 December 2020

The −1997 G/T Polymorphism in the COLIA1 Upstream Regulatory Region is Associated with Hip Bone Mineral Density (BMD) in Chinese Nuclear Families

1 reference

12 December 2020

Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse

1 reference

12 December 2020

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

1 reference

12 December 2020

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

1 reference

12 December 2020

Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans

1 reference

12 December 2020

Genetic and environmental determinants of bone mineral density in Chinese women

1 reference

12 December 2020

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

1 reference

12 December 2020

The association of bone mineral density with estrogen receptor gene polymorphisms

1 reference

12 December 2020

LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women

1 reference

12 December 2020

Bone morphogenetic protein receptor signaling is necessary for normal murine postnatal bone formation

1 reference

12 December 2020

Bone mass in young adults: relationship with gender, weight and genetic factors.

1 reference

12 December 2020

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene

1 reference

12 December 2020

Identification of mouse Duffy antigen receptor for chemokines (Darc) as a BMD QTL gene

1 reference

12 December 2020

Polymorphism of the Aromatase Gene in Postmenopausal Italian Women: Distribution and Correlation with Bone Mass and Fracture Risk1

1 reference

12 December 2020

Association between vitamin D receptor gene polymorphisms, falls, balance and muscle power: results from two independent studies (APOSS and OPUS).

1 reference

12 December 2020

Collagen genes and proteins in osteogenesis imperfecta

1 reference

12 December 2020

Estrogen receptor beta dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women

1 reference

12 December 2020

Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.

1 reference

12 December 2020

Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women.

1 reference

12 December 2020

Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures

1 reference

12 December 2020

Positive regulation of adult bone formation by osteoblast-specific transcription factor osterix

1 reference

12 December 2020

Association analysis of WNT10B with bone mass and structure among individuals of African ancestry

1 reference

12 December 2020

A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women.

1 reference

12 December 2020

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

1 reference

12 December 2020

Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young Korean men and women

1 reference

12 December 2020

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population.

1 reference

12 December 2020

The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene

1 reference

12 December 2020

Bone mass effects of a BMP4 gene polymorphism in postmenopausal women

1 reference

12 December 2020

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

1 reference

12 December 2020

Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation

1 reference

12 December 2020

Expression of interleukin-21 receptor, but not interleukin-21, in synovial fibroblasts and synovial macrophages of patients with rheumatoid arthritis

1 reference

12 December 2020

Osteoporosis: an evolutionary perspective

1 reference

12 December 2020

Genome-wide association study for femoral neck bone geometry

1 reference

12 December 2020

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

1 reference

12 December 2020

Essential role of beta-catenin in postnatal bone acquisition

1 reference

12 December 2020

Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms

1 reference

12 December 2020

Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene

1 reference

12 December 2020

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

1 reference

12 December 2020

Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population.

1 reference

12 December 2020

Pre-operative pulmonary assessment for patients with hip fracture

1 reference

12 December 2020

10.1007/S00439-009-0773-Z

Identifiers

DOI

1 reference

21 August 2017

1 reference