Insights from human genetic studies into the pathways involved in osteoarthritis

TheDOT1Lrs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males

(2013) Evangelos Evangelou et al.   ANNALS OF THE RHEUMATIC DISEASES

The genetics and functional analysis of primary osteoarthritis susceptibility

(2013) Louise N. Reynard et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

(2013) H. Nagase et al.   OSTEOARTHRITIS AND CARTILAGE

Growth Differentiation Factor-5 Enhances In Vitro Mesenchymal Stromal Cell Chondrogenesis and Hypertrophy

(2013) Cynthia M. Coleman et al.   STEM CELLS AND DEVELOPMENT

The Identification of Trans-acting Factors That Regulate the Expression of GDF5 via the Osteoarthritis Susceptibility SNP rs143383

(2013) Catherine M. Syddall et al.   PLoS Genetics

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

(2012) Steffan D Bos et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2012) Katherine S Elliott et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2012) Carol G. Chen et al.   ARTHRITIS AND RHEUMATISM

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

(2012) J. C. H. Leijten et al.   ARTHRITIS AND RHEUMATISM

Adaptive evolution of loci covarying with the human African Pygmy phenotype

(2012) Isabel Mendizabal et al.   HUMAN GENETICS

Parathyroid Hormone-Related Protein: An Update

(2012) John J. Wysolmerski   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2012)   LANCET

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

(2012) Steve Eyre et al.   NATURE GENETICS

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

(2012) Karol Estrada et al.   NATURE GENETICS

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

(2012) M.J. Barter et al.   OSTEOARTHRITIS AND CARTILAGE

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

(2012) Y. Xu et al.   OSTEOARTHRITIS AND CARTILAGE

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

(2012) M. C. Castano Betancourt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Variant in MCF2L Is Associated with Osteoarthritis

(2011) Aaron G. Day-Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The diverse functions of Dot1 and H3K79 methylation

(2011) A. T. Nguyen et al.   GENES & DEVELOPMENT

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

(2011) Makoto Hirata et al.   HUMAN MOLECULAR GENETICS

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

(2011) Gail C. Jackson et al.   HUMAN MUTATION

A Symphony of Regulations Centered onp63to Control Development of Ectoderm-Derived Structures

(2011) Luisa Guerrini et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

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

(2011) E J Mackie et al.   JOURNAL OF ENDOCRINOLOGY

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

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

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

(2011) K. Gelse et al.   OSTEOARTHRITIS AND CARTILAGE

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) M. Daans et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2010) K. Panoutsopoulou et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2010) Ana M. Valdes et al.   ARTHRITIS AND RHEUMATISM

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

(2010) F. M. K. Williams et al.   ARTHRITIS AND RHEUMATISM

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

(2010) Jianhua Zhao et al.   BMC Medical Genetics

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

(2010) So‑Young Kim et al.   CELL BIOLOGY INTERNATIONAL

RUNX2 Polymorphisms Associated with OPLL and OLF in the Han Population

(2010) Yang Liu et al.   CLINICAL ORTHOPAEDICS AND RELATED RESEARCH

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

(2010) Hana Lango Allen et al.   NATURE

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

(2010) K. Rouault et al.   OSTEOARTHRITIS AND CARTILAGE

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

(2010) C. Karlsson et al.   OSTEOARTHRITIS AND CARTILAGE

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

(2010) J. H. D. Bassett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) T. Hirai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) M. Posthumus et al.   RHEUMATOLOGY

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

(2010) Rita Dreier   ARTHRITIS RESEARCH & THERAPY

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

(2010) Christoph Becher et al.   Journal of Orthopaedic Surgery and Research

Functional analysis of the osteoarthritis susceptibility-associatedGDF5regulatory polymorphism

(2009) Rainer J. Egli et al.   ARTHRITIS AND RHEUMATISM

The association between the COL12A1 gene and anterior cruciate ligament ruptures

(2009) M. Posthumus et al.   BRITISH JOURNAL OF SPORTS MEDICINE

Association of a RUNX2 Promoter Polymorphism with Bone Mineral Density in Postmenopausal Korean Women

(2009) Hee-Jung Lee et al.   CALCIFIED TISSUE INTERNATIONAL

Regulation of bone development and extracellular matrix protein genes by RUNX2

(2009) Toshihisa Komori   CELL AND TISSUE RESEARCH

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

(2009) M. Cortes et al.   DEVELOPMENT

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

(2009) M. Zhang et al.   JOURNAL OF CELL SCIENCE

Identification of 15 loci influencing height in a Korean population

(2009) Jae-Jung Kim et al.   JOURNAL OF HUMAN GENETICS

Increase in ALK1/ALK5 Ratio as a Cause for Elevated MMP-13 Expression in Osteoarthritis in Humans and Mice

(2009) E. N. Blaney Davidson et al.   JOURNAL OF IMMUNOLOGY

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

(2009) Taketoshi Yasuda et al.   MODERN PATHOLOGY

Parathyroid Hormone-Related Peptide Represses Chondrocyte Hypertrophy through a Protein Phosphatase 2A/Histone Deacetylase 4/MEF2 Pathway

(2009) E. Kozhemyakina et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2009) Da Wei Huang et al.   Nature Protocols

Family-Based Association Study of Polymorphisms in the RUNX2 Locus with Hand Bone Length and Hand BMD

(2008) S. Ermakov et al.   ANNALS OF HUMAN GENETICS

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

(2008) Qiuqian Wu et al.   ARTHRITIS AND RHEUMATISM

Iodothyronine deiodinase enzyme activities in bone

(2008) Allan J. Williams et al.   BONE

The Structure of Glycosaminoglycans and their Interactions with Proteins

(2008) Neha S. Gandhi et al.   Chemical Biology & Drug Design

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

(2008) Steffan Daniël Bos et al.   CURRENT OPINION IN RHEUMATOLOGY

Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy

(2008) K. K. Mak et al.   DEVELOPMENT

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

(2008) K. Chapman et al.   HUMAN MOLECULAR GENETICS

Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis

(2008) Ingrid Meulenbelt et al.   HUMAN MOLECULAR GENETICS

Brachydactyly type A2 associated with a defect in proGDF5 processing

(2008) Frank Plöger et al.   HUMAN MOLECULAR GENETICS

Targeting transcription factors for therapeutic benefit

(2008) Paul Brennan et al.   Molecular BioSystems

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

(2008) Serena Sanna et al.   NATURE GENETICS

Many sequence variants affecting diversity of adult human height

(2008) Daniel F Gudbjartsson et al.   NATURE GENETICS

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

(2008) Guillaume Lettre et al.   NATURE GENETICS

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

(2008) M. Geyer et al.   OSTEOARTHRITIS AND CARTILAGE

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

(2007) J. Jiang et al.   OSTEOARTHRITIS AND CARTILAGE