Published in BMC Med Genet on December 19, 2009
Bone Morphogenetic Protein (BMP) signaling in development and human diseases. Genes Dis (2014) 1.27
Relationship between joint shape and the development of osteoarthritis. Curr Opin Rheumatol (2010) 1.17
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics (2010) 1.16
Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies. Arthritis Rheumatol (2014) 1.00
Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee. Rheumatol Int (2011) 0.85
Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder. PLoS One (2012) 0.79
Association of a BMP5 microsatellite with knee osteoarthritis: case-control study. Arthritis Res Ther (2012) 0.77
Defining structural abnormalities of the hip joint at risk of degeneration. J Hip Preserv Surg (2014) 0.75
Association between Single Nucleotide Polymorphisms of SMAD3 and BMP5 with the Risk of Knee Osteoarthritis. J Clin Diagn Res (2017) 0.75
Evaluation of the association between a single-nucleotide polymorphism of bone morphogenetic proteins 5 gene and risk of knee osteoarthritis. J Postgrad Med (2017) 0.75
The human genome browser at UCSC. Genome Res (2002) 168.23
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
Ultraconserved elements in the human genome. Science (2004) 17.14
VISTA: computational tools for comparative genomics. Nucleic Acids Res (2004) 13.52
Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet (1995) 8.09
Pathogenesis and management of pain in osteoarthritis. Lancet (2005) 4.35
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet (2007) 4.31
Model-free analysis and permutation tests for allelic associations. Hum Hered (2000) 3.70
TGF-beta superfamily members and ovarian follicle development. Reproduction (2006) 3.45
Regulatory polymorphisms underlying complex disease traits. J Mol Med (Berl) (2004) 3.22
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet (2005) 3.00
Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage (2004) 2.74
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. Hum Mol Genet (2007) 2.52
Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum (2007) 1.95
An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo. Genetics (1998) 1.70
Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet (2001) 1.54
Extreme context specificity in differential allelic expression. Hum Mol Genet (2007) 1.47
Microarray gene expression profiling of osteoarthritic bone suggests altered bone remodelling, WNT and transforming growth factor-beta/bone morphogenic protein signalling. Arthritis Res Ther (2007) 1.47
Mechanisms for asporin function and regulation in articular cartilage. J Biol Chem (2007) 1.40
Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum (2009) 1.34
Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. Proc Natl Acad Sci U S A (2000) 1.31
A new role for BMP5 during limb development acting through the synergic activation of Smad and MAPK pathways. Dev Biol (2004) 1.31
Distinct functions of BMP4 and GDF5 in the regulation of chondrogenesis. J Cell Biochem (2004) 1.30
Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med (2005) 1.27
Dynamic patterns of expression of BMP isoforms 2, 4, 5, 6, and 7 during chicken heart development. Anat Rec A Discov Mol Cell Evol Biol (2004) 1.19
New gene associations in osteoarthritis: what do they provide, and where are we going? Curr Opin Rheumatol (2007) 1.18
Bone morphogenetic proteins in the development and healing of synovial joints. Semin Arthritis Rheum (2001) 1.17
Mutations in the MYB intron I regulatory sequence increase transcription in colon cancers. Genes Chromosomes Cancer (2006) 1.13
Shaping skeletal growth by modular regulatory elements in the Bmp5 gene. PLoS Genet (2008) 1.07
BMP-5 expression increases during chondrocyte differentiation in vivo and in vitro and promotes proliferation and cartilage matrix synthesis in primary chondrocyte cultures. J Cell Physiol (2008) 0.95
Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13. Arthritis Rheum (2004) 0.91
Expression and regulation of the osteoarthritis-associated protein asporin. J Biol Chem (2007) 0.91
CLUMPHAP: a simple tool for performing haplotype-based association analysis. Genet Epidemiol (2008) 0.90
Abundance of dinucleotide repeats and gene expression are inversely correlated: a role for gene function in addition to intron length. Physiol Genomics (2007) 0.90
Novel roles for GATA transcription factors in the regulation of steroidogenesis. J Steroid Biochem Mol Biol (2003) 0.89
Genetics of osteoarthritis and potential for drug development. Curr Opin Pharmacol (2003) 0.87
Characterization of immortalized human chondrocytes originated from osteoarthritis cartilage. Int J Mol Med (2001) 0.79
Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene. Rheumatology (Oxford) (2003) 0.79
Molecular cloning and characterization of human bone morphogenic protein (BMP)-5 gene promoter. Biochem Biophys Res Commun (1996) 0.79
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet (2012) 3.48
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
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. Hum Mol Genet (2007) 2.52
Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheum (2009) 2.47
Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females. Proc Natl Acad Sci U S A (2004) 2.16
A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum (2010) 2.02
Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum (2007) 1.95
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. Hum Mol Genet (2008) 1.91
Characterization of the cartilage DNA methylome in knee and hip osteoarthritis. Arthritis Rheumatol (2014) 1.77
Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis (2010) 1.75
Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann Rheum Dis (2012) 1.62
Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Hum Mol Genet (2008) 1.60
Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol (2009) 1.60
A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet (2011) 1.60
Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum (2005) 1.48
Extreme context specificity in differential allelic expression. Hum Mol Genet (2007) 1.47
Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis. Am J Hum Genet (2008) 1.45
Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis Rheum (2006) 1.44
Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs. Arthritis Rheum (2002) 1.41
Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum (2003) 1.34
Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum (2009) 1.34
Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet (2007) 1.28
Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med (2005) 1.27
Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides. Hum Mol Genet (2002) 1.24
Insights from human genetic studies into the pathways involved in osteoarthritis. Nat Rev Rheumatol (2013) 1.22
Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis. Arthritis Rheum (2002) 1.17
Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Hum Mol Genet (2011) 1.15
Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations. Hum Mol Genet (2009) 1.15
Genetics and epigenetics of osteoarthritis. Maturitas (2011) 1.15
A novel allelic variant of the human TSG-6 gene encoding an amino acid difference in the CUB module. Chromosomal localization, frequency analysis, modeling, and expression. J Biol Chem (2002) 1.13
The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev Mol Med (2013) 1.10
Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Ann Rheum Dis (2012) 1.04
The effect of genome-wide association scan quality control on imputation outcome for common variants. Eur J Hum Genet (2011) 1.04
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord (2012) 1.01
CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383. Hum Genet (2014) 1.01
Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies. Arthritis Rheumatol (2014) 1.00
Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. Ann Rheum Dis (2010) 0.96
Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6. Eur J Hum Genet (2002) 0.93
The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet (2013) 0.93
The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males. Ann Rheum Dis (2013) 0.92
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Med Genet (2012) 0.92
Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13. Arthritis Rheum (2004) 0.91
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1. BMC Med Genet (2014) 0.90
Genetic background increases the risk of hip osteoarthritis. Clin Orthop Relat Res (2005) 0.89
A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. Eur J Hum Genet (2012) 0.89
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Hum Mutat (2008) 0.88
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet (2010) 0.88
Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet (2012) 0.88
Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis. Arthritis Rheum (2008) 0.88
Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women. Arthritis Rheum (2004) 0.87
BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model. Growth Factors (2010) 0.86
Variation in the secreted frizzled-related protein-3 gene and risk of osteolysis and heterotopic ossification after total hip arthroplasty. J Orthop Res (2007) 0.86
Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis. Hum Genet (2004) 0.86
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Ann Rheum Dis (2012) 0.86
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcif Tissue Int (2007) 0.84
Genetic association analysis of RHOB and TXNDC3 in osteoarthritis. Am J Hum Genet (2007) 0.84
Replication of established common genetic variants for adult BMI and childhood obesity in Greek adolescents: the TEENAGE study. Ann Hum Genet (2013) 0.83
The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee. J Rheumatol (2005) 0.82