(Q38130079)

29 August 2017

title

Insights from human genetic studies into the pathways involved in osteoarthritis (English)

1 reference

29 August 2017

0 references

Louise N Reynard

1

1 reference

29 August 2017

John Loughlin

series ordinal

2

1 reference

29 August 2017

language of work or name

English

0 references

publication date

20 August 2013

1 reference

Nature Reviews Rheumatology

29 August 2017

published in

1 reference

29 August 2017

volume

9

1 reference

29 August 2017

issue

10

1 reference

29 August 2017

page(s)

573-583

1 reference

The genetics and functional analysis of primary osteoarthritis susceptibility.

29 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Hypertrophic differentiation of chondrocytes in osteoarthritis: the developmental aspect of degenerative joint disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

A variant in MCF2L is associated with osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes in osteoarthritis pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Gremlin 1, Frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Molecular mechanisms of endochondral bone development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and -independent pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Contribution of runt-related transcription factor 2 to the pathogenesis of osteoarthritis in mice after induction of knee joint instability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Regulation of bone development and extracellular matrix protein genes by RUNX2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Cbfa1 is a positive regulatory factor in chondrocyte maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Regulation of chondrocyte differentiation by Cbfa1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Maturational disturbance of chondrocytes in Cbfa1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Critical roles for collagenase-3 (Mmp13) in development of growth plate cartilage and in endochondral ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Molecular differentiation between osteophytic and articular cartilage--clues for a transient and permanent chondrocyte phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Parathyroid hormone-related protein: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Parathyroid hormone-related peptide (PTHrP) inhibits Runx2 expression through the PKA signaling pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

PTHrP prevents chondrocyte premature hypertrophy by inducing cyclin-D1-dependent Runx2 and Runx3 phosphorylation, ubiquitylation and proteasomal degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Interaction between zonal populations of articular chondrocytes suppresses chondrocyte mineralization and this process is mediated by PTHrP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Three-dimensional cartilage tissue engineering using adult stem cells from osteoarthritis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Effects of arginine-vasopressin and parathyroid hormone-related protein (1-34) on cell proliferation and production of YKL-40 in cultured chondrocytes from patients with rheumatoid arthritis and osteoarthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Decrease in the expression of the type 1 PTH/PTHrP receptor (PTH1R) on chondrocytes in animals with osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Chondrocyte-intrinsic Smad3 represses Runx2-inducible matrix metalloproteinase 13 expression to maintain articular cartilage and prevent osteoarthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Growth differentiation factor-5 enhances in vitro mesenchymal stromal cell chondrogenesis and hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Cartilage-derived morphogenetic protein-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Differentially regulated expression of growth differentiation factor 5 and bone morphogenetic protein 7 in articular cartilage and synovium in murine chronic arthritis: potential importance for cartilage breakdown and synovial hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The structure of glycosaminoglycans and their interactions with proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The Roles of Chondroitin-4-Sulfotransferase-1 in Development and Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Thyroid hormone and the growth plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Thyroid hormone interacts with the Wnt/beta-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Iodothyronine deiodinase enzyme activities in bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Deiodinase 2 upregulation demonstrated in osteoarthritis patients cartilage causes cartilage destruction in tissue-specific transgenic rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Notch and the p53 clan of transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

A symphony of regulations centered on p63 to control development of ectoderm-derived structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The diverse functions of Dot1 and H3K79 methylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

New insights into osteoarthritis: early developmental features of an ageing-related disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Targeting transcription factors for therapeutic benefit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Family-based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Brachydactyly type A2 associated with a defect in proGDF5 processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

GDF5 is a second locus for multiple-synostosis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Deletion and point mutations of PTHLH cause brachydactyly type E.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Hundreds of variants clustered in genomic loci and biological pathways affect human height

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Identification of ten loci associated with height highlights new biological pathways in human growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Adaptive evolution of loci covarying with the human African Pygmy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Many sequence variants affecting diversity of adult human height

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Variation in femoral length is associated with polymorphisms in RUNX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Identification of 15 loci influencing height in a Korean population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The association between the COL12A1 gene and anterior cruciate ligament ruptures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

RUNX2 polymorphisms associated with OPLL and OLF in the Han population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Degradation of cartilage aggrecan by collagenase-3 (MMP-13)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

PTHrP and skeletal development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

The expressions of the SOX trio, PTHrP (parathyroid hormone-related peptide)/IHH (Indian hedgehog protein) in surgically induced osteoarthritis of the rat

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Decoy molecules based on PNA-DNA chimeras and targeting Sp1 transcription factors inhibit the activity of urokinase-type plasminogen activator receptor (uPAR) promoter.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.121

TGFbeta2 mediates the effects of hedgehog on hypertrophic differentiation and PTHrP expression.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23958796

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23958796

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRRHEUM.2013.121

1 reference

Dimensions Publication ID

29 August 2017

1009479863

0 references

1 reference