about
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen geneGenetic association analysis of RHOB and TXNDC3 in osteoarthritisCrystals in hand.The role of inflammation-related genes in osteoarthritisGenetic contribution to osteoarthritis development: current state of evidenceA meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hipMeta-analysis of association between the ASPN D-repeat and osteoarthritisIdentification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association studyExtreme context specificity in differential allelic expressionA genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritisMeta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22A variant in MCF2L is associated with osteoarthritis.Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Familial inheritance of osteoarthritis: documented family subsets.No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan dataAssociation of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis.A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis.CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneityOsteoarthritis-susceptibility locus on chromosome 11q, detected by linkage.Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis.Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.Characterization of the cartilage DNA methylome in knee and hip osteoarthritisGenetics of osteoarthritis and potential for drug development.Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilageFunctional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients
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P50
description
researcher ORCID 0000-0003-2018-3361
@en
wetenschapper
@nl
name
John Loughlin
@ast
John Loughlin
@en
John Loughlin
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John Loughlin
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type
label
John Loughlin
@ast
John Loughlin
@en
John Loughlin
@es
John Loughlin
@nl
prefLabel
John Loughlin
@ast
John Loughlin
@en
John Loughlin
@es
John Loughlin
@nl
P108
P106
P21
P31
P496
0000-0003-2018-3361