Rapid phenotyping of knockout mice to identify genetic determinants of bone strength (Q28066355)

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12 June 2020

John Logan

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12 June 2020

Peter I Croucher

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Sanger Institute Mouse Pipelines

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Graham R Williams

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12 June 2020

J H Duncan Bassett

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October 2016

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27 January 2024

Journal of Endocrinology

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13 March 2019

17 June 2019

22 October 2019

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Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength

20 March 2017

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20 March 2017

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Five years of GWAS discovery

20 March 2017

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20 March 2017

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Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation

20 March 2017

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

20 March 2017

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

20 March 2017

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A Mouse for All Reasons

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A haplotype map of the human genome

20 March 2017

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Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo

20 March 2017

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Initial sequencing and comparative analysis of the mouse genome

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)

20 March 2017

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

20 March 2017

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

20 March 2017

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20 March 2017

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

20 March 2017

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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

20 March 2017

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Bench to bedside: elucidation of the OPG-RANK-RANKL pathway and the development of denosumab

20 March 2017

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Evidence for osteocyte regulation of bone homeostasis through RANKL expression

20 March 2017

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Genomewide association studies and assessment of the risk of disease

20 March 2017

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Mechanical stimulation of bone in vivo reduces osteocyte expression of Sost/sclerostin

20 March 2017

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Effects of raloxifene on cardiovascular events and breast cancer in postmenopausal women

20 March 2017

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Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation

20 March 2017

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

20 March 2017

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Collaborative Cross and Diversity Outbred data resources in the Mouse Phenome Database

20 March 2017

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CRISPR-Cas systems for editing, regulating and targeting genomes

20 March 2017

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ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

7 April 2017

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Human genetic variation and its contribution to complex traits

7 April 2017

1 reference

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Congenital leptin deficiency is associated with severe early-onset obesity in humans

7 April 2017

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Integrative Analysis of Transcriptomic and Epigenomic Data to Reveal Regulation Patterns for BMD Variation

7 April 2017

1 reference

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

29 September 2017

1 reference

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High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes

29 September 2017

1 reference

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Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

29 September 2017

1 reference

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Sclerostin inhibition: a novel therapeutic approach in the treatment of osteoporosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Bone Mineral Content and Density

29 September 2017

1 reference

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Odanacatib for the treatment of postmenopausal osteoporosis: development history and design and participant characteristics of LOFT, the Long-Term Odanacatib Fracture Trial

29 September 2017

1 reference

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Unveiling the mysteries of the genetics of osteoporosis

29 September 2017

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Ten years of next-generation sequencing technology

29 September 2017

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Fracture mortality: associations with epidemiology and osteoporosis treatment

29 September 2017

1 reference

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Computer-Automated Static, Dynamic and Cellular Bone Histomorphometry

29 September 2017

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The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

29 September 2017

1 reference

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Clinical impact of recent genetic discoveries in osteoporosis

29 September 2017

1 reference

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Osteoporosis in the European Union: medical management, epidemiology and economic burden. A report prepared in collaboration with the International Osteoporosis Foundation (IOF) and the European Federation of Pharmaceutical Industry Associations (EF

29 September 2017

1 reference

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Genome-wide approaches for identifying genetic risk factors for osteoporosis

29 September 2017

1 reference

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The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Beyond knockouts: cre resources for conditional mutagenesis

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Transgenic mice for a tamoxifen-induced, conditional expression of the Cre recombinase in osteoclasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

High-resolution genetic mapping using the Mouse Diversity outbred population

29 September 2017

1 reference

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Activation of resorption in fatigue-loaded bone involves both apoptosis and active pro-osteoclastogenic signaling by distinct osteocyte populations

29 September 2017

1 reference

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Quantitative X-ray imaging of rodent bone by Faxitron

29 September 2017

1 reference

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Sost downregulation and local Wnt signaling are required for the osteogenic response to mechanical loading.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Peripheral blood monocyte-expressed ANXA2 gene is involved in pathogenesis of osteoporosis in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

An integrative study ascertained SOD2 as a susceptibility gene for osteoporosis in Chinese

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Epigenetic influences in the developmental origins of osteoporosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

The genetics of bone loss: challenges and prospects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Targeted ablation of the PTH/PTHrP receptor in osteocytes impairs bone structure and homeostatic calcemic responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Guidelines for assessment of bone microstructure in rodents using micro-computed tomography

29 September 2017

1 reference

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Cellular and molecular mechanisms of bone remodeling.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase in osteoblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Prioritizing GWAS results: A review of statistical methods and recommendations for their application

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Generation of aggrecan-CreERT2 knockin mice for inducible Cre activity in adult cartilage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

PPIB mutations cause severe osteogenesis imperfecta

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Adverse effects of bisphosphonates: implications for osteoporosis management

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Excess mortality following hip fracture: a systematic epidemiological review

29 September 2017

1 reference

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A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

DMP1-targeted Cre expression in odontoblasts and osteocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

An estimate of the worldwide prevalence and disability associated with osteoporotic fractures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Mouse phenome research: implications of genetic background

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Transgenic mice expressing a ligand-inducible cre recombinase in osteoblasts and odontoblasts: a new tool to examine physiology and disease of postnatal bone and tooth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Osteocytes inhibit osteoclastic bone resorption through transforming growth factor-beta: enhancement by estrogen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Osteopenia and decreased bone formation in osteonectin-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Changes in axial bone density with age: a twin study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Nationwide registry-based analysis of cardiovascular risk factors and adverse outcomes in patients treated with strontium ranelate.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

A reliable lacZ expression reporter cassette for multipurpose, knockout-first alleles.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5064764

Family history of appendicular fracture and risk of osteoporosis: a population-based study

27 November 2018

1 reference

12 December 2020

Osteoblast-specific knockout of the insulin-like growth factor (IGF) receptor gene reveals an essential role of IGF signaling in bone matrix mineralization

1 reference

12 December 2020

Transgenic mice that express Cre recombinase in osteoclasts

1 reference

12 December 2020

Predictive Value of BMD for Hip and Other Fractures

1 reference

12 December 2020

Novel therapies for osteoporosis

1 reference

12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Reduced bone mass in daughters of women with osteoporosis

1 reference

12 December 2020

Romosozumab/CDP7851 for the treatment of osteoporosis

1 reference

12 December 2020

Identifiers

DOI

10.1530/JOE-16-0258

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27535945%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27535945%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

2 references