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Browsing publications by Professor John Loughlin.

Newcastle AuthorsTitleYearFull text
Guillaume Aubourg
Dr Sarah Rice
Professor John Loughlin
Genetics of osteoarthritis2022
Abby Brumwell
Guillaume Aubourg
Juhel Hussain Chowdhery
Dr Eleanor Parker
Professor David Deehan
et al.
Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk2022
Professor John Loughlin
Dr Pawel Widera
Dr Jaume Bacardit
Predicted and actual 2-year structural and pain progression in the IMI-APPROACH knee osteoarthritis cohort2022
Professor John Loughlin
Towards precision medicine – is genetic risk prediction ready for prime time in osteoarthritis?2022
Professor John Loughlin
Translating osteoarthritis genetics research: challenging times ahead2022
Dr Sarah Rice
Jack Roberts
Maria Tselepi
Abby Brumwell
Professor John Loughlin
et al.
Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint2021
Yulia Kehayova
Professor John Loughlin
Dr Sarah Rice
Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis2021
Dr Sarah Rice
Kat Cheung
Professor John Loughlin
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene2021
Dr Sarah Rice
Dr Sami Anjum
Professor David Deehan
Professor John Loughlin
Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility2021
Professor John Loughlin
Neuropathic pain in the IMI-APPROACH knee osteoarthritis cohort: prevalence and phenotyping2021
Professor John Loughlin
Osteoarthritis Research Society International (OARSI): Past, present and future2021
Professor John Loughlin
Cohort profile: The Applied Public-Private Research enabling OsteoArthritis Clinical Headway (IMI-APPROACH) study: a 2-year, European, cohort study to describe, validate and predict phenotypes of osteoarthritis using clinical, imaging and biochemical markers2020
Dr Sarah Rice
Professor David Young
Professor John Loughlin
Interplay between genetics and epigenetics in osteoarthritis2020
Dr Pawel Widera
Professor John Loughlin
Dr Jaume Bacardit
Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data2020
Dr Tony Sorial
Ines Hofer
Maria Tselepi
Kat Cheung
Dr Eleanor Parker
et al.
Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC2020
Professor John Loughlin
The use of technology in the subcategorisation of osteoarthritis: a Delphi study approach2020
Dr Sarah Rice
Kat Cheung
Dr Louise Reynard
Professor John Loughlin
Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals2019
Professor John Loughlin
Erratum: Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures (Nature communications (2019) 10 1 (2054))2019
Dr Colin Shepherd
Abi Reese
Dr Louise Reynard
Professor John Loughlin
Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP2019
Dr Sarah Rice
Dr Colin Shepherd
Professor John Loughlin
Functional testing of thousands of osteoarthritis-associated variants for regulatory activity2019
Professor John Loughlin
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures2019
Dr Sarah Rice
Kat Cheung
Dr Louise Reynard
Professor John Loughlin
Identification and analysis of novel methylation quantitative trait loci (mQTLs) in osteoarthritis2019
Dr Sarah Rice
Maria Tselepi
Dr Tony Sorial
Guillaume Aubourg
Dr Colin Shepherd
et al.
Prioritization of PLEC and GRINA as osteoarthritis risk genes through the identification and characterization of novel methylation quantitative trait loci2019
Dr Colin Shepherd
Dr Dongxing Zhu
Andrew Skelton
Dr Louise Reynard
Professor John Loughlin
et al.
Functional characterization of the osteoarthritis genetic risk residing at ALDH1A2 identifies rs12915901 as a key target variant.2018
Dr Madhushika Ratnayake
Maria Tselepi
Professor John Loughlin
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF52018
Dr Colin Shepherd
Dr Louise Reynard
Professor John Loughlin
Genotype at the MGP OA risk locus correlates with an expression quantitative trait locus operating on MGP in cartilage and with DNA methylation at a cluster of regulatory CpGs within ARHGDIB2018
Dr Sarah Rice
Guillaume Aubourg
Dr Tony Sorial
Dr David Almarza Gomez
Maria Tselepi
et al.
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk2018
Dr Sarah Rice
Dr Tony Sorial
Guillaume Aubourg
Dr Colin Shepherd
Maria Tselepi
et al.
Identification of novel methylation quantitative trait loci (mqtls) and functional characterization using CRISPR/CAS9 and gene expression analysis prioritizes PLEC as an OA risk gene2018
Dr Madhushika Ratnayake
Maria Tselepi
Dr Louise Reynard
Professor John Loughlin
A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF52017
Dr Sarah Rice
Guillaume Aubourg
Dr Tony Sorial
Professor David Deehan
Professor John Loughlin
et al.
Epigenetic and transcriptional effects operate on the SUPT3H and RUNX2 genes residing at the chromosome 6p21.1 osteoarthritis susceptibility locus and correlate with the association signal2017
Dr Colin Shepherd
Dr Dongxing Zhu
Andrew Skelton
Dr Louise Reynard
Professor John Loughlin
et al.
Functional characterisation of the osteoarthritis genetic risk locus that resides at the gene ALDH1A2, coding for the retinoic acid synthesis enzyme RALDH2, identifies rs4646636 and rs12915901 as key target SNPs2017
Dr David Almarza Gomez
Professor John Loughlin
Genome editing for human osteoarthritis - a perspective2017
Dr Louise Reynard
Andrew Skelton
David Young
Professor John Loughlin
The first international workshop on the epigenetics of osteoarthritis2017
Dr Louise Reynard
Dr Amanda Villalvilla Garcia
Professor John Loughlin
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis2017
Professor John Loughlin
Dr Carole Proctor
A proteomic analysis of chondrogenic, osteogenic and tenogenic constructs from ageing mesenchymal stem cells2016
Dr Michael Rushton
Professor John Loughlin
Dr Carole Proctor
Age-related Changes in Mesenchymal Stem Cells Identified Using a Multi-omics Approach2016
Andrew Skelton
Dr Rodolfo Gomez
Professor John Loughlin
Dr Louise Reynard
Age-related DNA methylation changes in normal and osteoarthritis cartilage2016
Michael Rushton
Professor John Loughlin
Dr Carole Proctor
Decoding the regulatory landscape of ageing in musculoskeletal engineered tissues using genome-wide DNA methylation and RNASeq2016
Maria Tselepi
Madhushika Ratnayake
Dr Louise Reynard
Professor John Loughlin
Differences in the response of mesenchymal stem cells from healthy donors and OA patients to exogenous GDF5 during chondrogenic differentiation2016
Dr Amanda Villalvilla Garcia
Dr Fiona Gee
Professor John Loughlin
Dr Louise Reynard
DNA methylation in the 20q13 OA susceptibility region marked by rs6094710 is associated with modulation of NCOA3 gene expression2016
Dr Colin Shepherd
Andrew Skelton
Dr Michael Rushton
Dr Louise Reynard
Professor John Loughlin
et al.
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs118428742016
Dr Louise Reynard
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Functional characterization of the osteoarthritis susceptibility mapping to CHST11 - a bioinformatics and molecular study2016
Emma Rogers
Dr Louise Reynard
Dr Kenneth Rankin
Professor John Loughlin
Functional Investigation of an OA susceptibility locus at chromsome 9q33.1 associated with female hip osteoarthritis2016
Dr Louise Reynard
Professor John Loughlin
Investigating the effects of high-glucose exposure on DNA methylation and gene transcription in musculoskeletal cells2016
Professor John Loughlin
Translation of clinical problems in osteoarthritis into pathophysiological research goals2016
Dr Fiona Gee
Dr Michael Rushton
Professor John Loughlin
Dr Louise Reynard
Correlation of the Osteoarthritis Susceptibility Variants That Map to Chromosome 20q13 With an Expression Quantitative Trait Locus Operating on NCOA3 and With Functional Variation at the Polymorphism rs1168553802015
Fabio D'agostino
Professor John Loughlin
Development of successful bio-preservation strategies for cell therapy medicinal products2015
Dr Michael Rushton
Professor David Young
Professor John Loughlin
Dr Louise Reynard
Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients2015
Dr Michael Rushton
Professor David Young
Professor John Loughlin
Dr Louise Reynard
Differential DNA methylation and expression of inflammatory and zinc transporter genes defines sub-groups of osteoarthritic hip patients2015
Dr Colin Shepherd
Andrew Skelton
Dr Michael Rushton
Dr Louise Reynard
Professor John Loughlin
et al.
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs118428742015
Dr Katherine Johnson
Dr Louise Reynard
Professor John Loughlin
Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs93505912015
Professor John Loughlin
Genetic contribution to osteoarthritis development: current state of evidence2015
Dr Michael Rushton
Dr Louise Reynard
Professor David Young
Dr Colin Shepherd
Dr Rebecca Darlay
et al.
Methylation of cartilage DNA is a mediator of genetic risk at several OA susceptibility loci2015
Dr Michael Rushton
Dr Louise Reynard
Professor David Young
Dr Colin Shepherd
Dr Fiona Gee
et al.
Methylation quantitative trait locus (meQTL) analysis of osteoarthritis links epigenetics with genetic risk2015
Professor John Loughlin
Dr Louise Reynard
Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA2015
Professor John Loughlin
Dr Louise Reynard
Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA2015
Dr Louise Reynard
Professor John Loughlin
The carbohydrate sulfotransferase gene CHST11 is regulated by DNA methylation which impacts on the functional effect of the OA generic susceptibility residing at this locus2015
Emma Rogers
Dr Louise Reynard
Professor John Loughlin
The role of inflammation-related genes in osteoarthritis2015
Steffan Bos
Professor Fraser Birrell
Professor Andrew McCaskie
Michael Reed
Professor John Loughlin
et al.
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip2014
Dr Fiona Gee
Clare Clubbs
Dr Emma Raine
Dr Louise Reynard
Professor John Loughlin
et al.
Allelic expression analysis of genes from within the osteoarthritis susceptibility locus at chromosome 3p21 reveals functional gene expression effects at GNL3 and SPCS1 that correlate with the association signal2014
Dr Fiona Gee
Clare Clubbs
Emma Raine
Dr Louise Reynard
Professor John Loughlin
et al.
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1 2014
Dr Fiona Gee
Clare Clubbs
Dr Emma Raine
Dr Louise Reynard
Professor John Loughlin
et al.
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS12014
Professor Andrew McCaskie
Professor John Loughlin
Assessment of osteoarthritis candidate genes in a meta-analysis of 9 genome-wide association studies2014
Dr Michael Rushton
Dr Louise Reynard
Dr Matthew Barter
Dr Kenneth Rankin
Professor David Young
et al.
Characterisation of the cartilage DNA methylome in knee and hip osteoarthritis using high-density genome-wide analysis2014
Dr Michael Rushton
Dr Louise Reynard
Dr Matthew Barter
Ramsay Refaie
Dr Kenneth Rankin
et al.
Characterization of the cartilage DNA methylome in knee and hip osteoarthritis2014
Dr Louise Reynard
Dr Catherine Bui
Catherine Syddall
Professor John Loughlin
CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs1433832014
Emma Rogers
Dr Louise Reynard
Dr Kate Rennie
Professor John Loughlin
Expression analysis of osteoarthritis associated genes in mesenchymal stem cells differentiating into joint-associated cells2014
Dr Katherine Johnson
Dr Louise Reynard
Professor John Loughlin
Functional analysis of the osteoarthritis susceptibility locus marked by the polymorphism rs104923672014
Dr Louise Reynard
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Functional analysis of the osteoarthritis susceptibility locus residing at the carbohydrate sulfotransferase 11 gene CHST112014
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF52014
Emma Raine
Dr Louise Reynard
Professor John Loughlin
Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome2014
Dr Emma Raine
Dr Louise Reynard
Professor John Loughlin
Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome2014
Professor John Loughlin
New functional microsatellite associated with osteoarthritis susceptibility2014
Dr Michael Rushton
Dr Fiona Gee
Dr Louise Reynard
Professor John Loughlin
The osteoarthritis association marked by SNP rs6094710 mediates its effect by reducing the expression of NCOA3 in joint tissues2014
Andrew Dodd
Catherine Syddall
Professor John Loughlin
A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression2013
Dr Emma Raine
Andrew Dodd
Dr Louise Reynard
Professor John Loughlin
Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues2013
Professor John Loughlin
Professor Andrew McCaskie
Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data2013
Dr Louise Reynard
Professor John Loughlin
Insights from human genetic studies into the pathways involved in osteoarthritis2013
Dr Gavin Hudson
Dr Ian Wilson
Professor Fraser Birrell
Professor Andrew McCaskie
Professor John Loughlin
et al.
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls2013
Professor John Loughlin
The Epigenetic Influences in Osteoarthritis2013
Dr Louise Reynard
Professor John Loughlin
The genetics and functional analysis of primary osteoarthritis susceptibility2013
Catherine Syddall
Dr Louise Reynard
Professor David Young
Professor John Loughlin
The Identification of Trans-acting Factors That Regulate the Expression of GDF5 via the Osteoarthritis Susceptibility SNP rs1433832013
Andrew Dodd
Professor John Loughlin
A functional investigation of a rare variant in the promoter of the OA-associated locus GDF5 and the discovery of a trans-acting factor interacting with the variant site2012
Professor Rita Horvath
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy2012
Andrew Dodd
Dr Emma Raine
Dr Louise Reynard
Professor John Loughlin
Allelic expression analysis in patient issues of the osteoarthritis and of the lumbar disc herniation susceptibility loci that map to COL11A12012
Dr Madhushika Ratnayake
Dr Louise Reynard
Dr Emma Raine
Dr Mauro Santibanez Koref
Professor John Loughlin
et al.
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL32012
Dr Madhushika Ratnayake
Dr Louise Reynard
Dr Emma Raine
Dr Mauro Santibanez Koref
Professor John Loughlin
et al.
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL32012
Dr Madhushika Ratnayake
Dr Louise Reynard
Emma Raine
Dr Mauro Santibanez Koref
Professor John Loughlin
et al.
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL32012
Dr Emma Raine
Dr Louise Reynard
Professor John Loughlin
Allelic expression analysis, and association with OA, of common variants in SMAD32012
Dr Mauro Santibanez Koref
Professor John Loughlin
An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response?2012
Professor John Loughlin
Association of a BMP5 microsatellite with knee osteoarthritis: case-control study2012
Professor John Loughlin
Association of a BMP5 microsatellite with knee osteoarthritis2012
Professor Sophie Hambleton
Dr David McDonald
Dr Helen Griffin
Angela Grainger
Dr Louise Reynard
et al.
Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II2012
Dr Louise Reynard
Professor John Loughlin
Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q222012
Dr Emma Raine
Andrew Dodd
Dr Louise Reynard
Professor John Loughlin
Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q222012
Dr Louise Reynard
Professor John Loughlin
Genetics and epigenetics of osteoarthritis2012
Dr Madhushika Ratnayake
Sheryl Mitchell
Michael Reed
Professor Andrew McCaskie
Professor John Loughlin
et al.
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study2012
Dr Emma Raine
Professor Fraser Birrell
Professor Andrew McCaskie
Professor John Loughlin
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study2012
Yaobo Xu
Dr Matthew Barter
Dr Daniel Swan
Dr Kenneth Rankin
Emeritus Professor Drew Rowan
et al.
Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA2012
Dr Matthew Barter
Dr Daniel Swan
Dr Kenneth Rankin
Emeritus Professor Drew Rowan
Dr Mauro Santibanez Koref
et al.
Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA2012
Steffan Bos
Dr Emma Raine
Professor John Loughlin
Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues2012
Catherine Syddall
Dr Louise Reynard
Professor David Young
Professor John Loughlin
The identification of the trans-acting factors that differentially regulate the expression of GDF5 via the OA associated SNP rs1433832012
Catherine Syddall
Dr Louise Reynard
Professor David Young
Professor John Loughlin
The identification of trans-acting factors that differentially regulate the expression of GDF5 via the osteoarthritis associated SNP RS1433832012
Dr Louise Reynard
Catherine Syddall
Professor John Loughlin
The osteoarthritis susceptibility gene GDF5 is under epigenetic regulation by DNA methylation - the molecular interplay between genetics and epigenetics in disease risk2012
Dr Helen Griffin
Dr David McDonald
Dr Rachel Dickinson
Angela Grainger
Dr Louise Reynard
et al.
Whole exome sequencing as a diagnostic tool in primary immunodeficiency2012
Professor John Loughlin
Professor Andrew McCaskie
A variant in MCF2L is associated with osteoarthritis2011
Andrew Dodd
Dr Louise Reynard
Professor John Loughlin
Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus2011
Dr Rachel Dickinson
Dr Helen Griffin
Dr Venetia Bigley
Dr Louise Reynard
Raf Hussain
et al.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency2011
Dr Louise Reynard
Dr Catherine Bui
Professor David Young
Professor John Loughlin
Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation2011
Professor John Loughlin
Genetic indicators and susceptibility to osteoarthritis2011
Professor John Loughlin
Genetics of osteoarthritis2011
Professor Andrew McCaskie
Professor John Loughlin
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study2011
Professor John Loughlin
Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap2011
Steffan Bos
Dr Kaye Chapman
Professor John Loughlin
Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility2011
Professor John Loughlin
Professor Andrew McCaskie
Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q222011
Professor John Loughlin
Osteoarthritis year 2010 in review: genetics2011
Professor John Loughlin
Osteoarthritis: All types of trouble-defining OA in the genomic era2011
Professor John Loughlin
Summary of the OA biomarkers workshop 2010 – genetics and genomics: new targets in OA2011
Professor John Loughlin
Professor Andrew McCaskie
The effect of genome-wide association scan quality control on imputation outcome for common variants2011
Dr David McDonald
Dr Helen Griffin
Angela Grainger
Dr Louise Reynard
Professor John Loughlin
et al.
Whole-exome deep sequencing identifies a novel causative mutation in primary immunodeficiency2011
Professor John Loughlin
A genome-wide association study identifies a common variant near the GPR22 gene as a new locus involved in prevalence and progression of osteoarthritis [Bone, 44S2 (2009) S224] [erratum]2010
Professor John Loughlin
A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q222010
Athanasia Gravani
Dr Emma Raine
Andrew Dodd
Professor John Loughlin
A multicenter study of the association of aromatase and estrogen receptor genes with hip and knee osteoarthritis2010
Dr Emma Raine
Athanasia Gravani
Professor John Loughlin
Allelic expression analysis of the genes within the chromosome 7q22 OA suceptibility locus reveals evidence for functional polymorphism in COGS2010
Professor John Loughlin
BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model2010
Professor John Loughlin
Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis2010
Athanasia Gravani
Dr Emma Raine
Andrew Dodd
Professor John Loughlin
Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study2010
Andrew Dodd
Professor John Loughlin
Deep sequencing of gdfs in over 1900 osteoarthritis cases and controls reveal novel and potentially functional rare variants in the protein coding and promoter regions of the gene2010
Steffan Bos
Professor John Loughlin
Functional characterization of OA risk polymorphism RS225014 at DI02 in human OA cartilage2010
Professor John Loughlin
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism2010
Dr Kaye Chapman
Professor John Loughlin
Interleukin-1 region meta-analysis with osteoarthritis phenotypes2010
Professor Andrew McCaskie
Professor John Loughlin
The Arcogen Consortium: Stage 1 of a genome-wide association scan for osteoarthritis2010
Dr Louise Reynard
Athanasia Gravani
Professor John Loughlin
The osteoarthritis-associated gene GDF5 is under epigenetic regulation in patient tissues and in a range of human cell lines2010
Professor John Loughlin
A genome-wide association study identifies a common variant near the GRP22 gene as a new locus involved in prevalence and progression of osteoarthritis2009
Professor John Loughlin
Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis2009
Professor John Loughlin
Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes2009
Dr Kaye Chapman
Professor John Loughlin
Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism2009
Professor John Loughlin
Genetics and osteoarthritis: implications for the clinic2009
Karen Chapman
Dr Masahiro Nakajima
Professor John Loughlin
Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations2009
Professor John Loughlin
Steffan Bos
Large-scale analysis of association between GDF5 (rs143383) and FRZB (rs7775 and rs288326) variants and hip, knee and hand osteoarthritis2009
Dr Kaye Chapman
Professor John Loughlin
Large-Scale Analysis of Association Between GDF5 and FRZB Variants and Osteoarthritis of the Hip, Knee, and Hand2009
Professor John Loughlin
Testing the druggable EDG2 knee OA genetic factor for replication in a wide range of sample collections2009
Professor John Loughlin
The role of genetic susceptibility in osteoarthritis development2009
Dr Kaye Chapman
Arata Takahashi
Dr Catherine Watson
Professor John Loughlin
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility2008
Professor John Loughlin
Dr Kaye Chapman
Big is beautiful2008
Professor John Loughlin
Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review2008
Professor John Loughlin
Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis2008
Professor John Loughlin
Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis2008
Steffan Bos
Dr Mitsushiro Nakatomi
Professor John Loughlin
Identification of DIO2 as new susceptibility locus for symptomatic Osteoarthritis2008
Professor John Loughlin
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-32008
Professor John Loughlin
Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility2007
Professor John Loughlin
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 cartilage2007
Professor John Loughlin
Extreme context specificity in differential allelic expression2007
Professor John Loughlin
Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus2007
Professor John Loughlin
Genetic association analysis of RHOB and TXNDC3 in osteoarthritis2007
Professor John Loughlin
Meta-analysis of association between the ASPN D-repeat and osteoarthritis2007
Professor John Loughlin
Osteoarthritis genetics: current status and future prospects2007
Professor John Loughlin
Dr Kaye Chapman
Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee2007
Professor John Loughlin
Variation in the secreted frizzled-related protein-3 gene and risk of Osteolysis and heterotopic ossification after total hip arthroplasty2007
Professor John Loughlin
Association analysis of the interleukin 17 genes IL17A and IL17F as potential osteoarthritis susceptibility loci2006
Dr Kaye Chapman
Professor John Loughlin
Association of the interleukin-1 gene cluster with osteoarthritis of the hip: comment on the article by Meulenbelt et al and the letter by Smith et al2006
Professor John Loughlin
Osteoarthritis linkage scan: more loci for the geneticists to investigate2006
Dr Kaye Chapman
Professor John Loughlin
Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al2006
Professor John Loughlin
Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women2006
Professor John Loughlin
Dr Kaye Chapman
The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population2006
Professor John Loughlin
Crystals in hand2005
Professor John Loughlin
Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q2005
Professor John Loughlin
Genetic background increases the risk of hip osteoarthritis2005
Professor John Loughlin
Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population2005
Professor John Loughlin
Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting2005
Professor John Loughlin
Recent advances in the genetic investigation of osteoarthritis2005
Professor John Loughlin
The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee2005
Professor John Loughlin
The genetic epidemiology of human primary osteoarthritis: current status2005
Professor John Loughlin
Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis2004
Professor John Loughlin
Familial inheritance of osteoarthritis: documented family subsets2004
Dr Kaye Chapman
Professor John Loughlin
Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women2004
Professor John Loughlin
Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females2004
Professor John Loughlin
Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q132004
Professor John Loughlin
Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women2003
Professor John Loughlin
Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene2003
Professor John Loughlin
Genetics of osteoarthritis and potential for drug development2003
Professor John Loughlin
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 expression2002
Professor John Loughlin
Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis2002
Professor John Loughlin
Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 62002
Professor John Loughlin
Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs2002
Professor John Loughlin
Genome studies and linkage in primary osteoarthritis2002
Professor John Loughlin
Refined linkage mapping of a hip osteoarthritis susceptibility locus on chromosome 2q2002
Professor John Loughlin
Genetic epidemiology of primary osteoarthritis2001
Dr Kaye Chapman
Professor John Loughlin
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia2001
Professor Michael Briggs
Professor John Loughlin
Mutations in the vWFA domain of matrilin-3 cause multiple epiphyseal dysplasia2001
Professor John Loughlin
Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al2000
Professor John Loughlin
Dr Kaye Chapman
Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis2000
Professor John Loughlin
Germline and somatic mosaicism in achondroplasia2000
Dr Kaye Chapman
Professor John Loughlin
Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis2000
Professor John Loughlin
Dr Kaye Chapman
Linkage analysis of chromosome 2q in osteoarthritis2000
Professor John Loughlin
Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity1999
Professor John Loughlin
Professor Michael Briggs
Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia1999
Professor John Loughlin
Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage1999
Professor John Loughlin
Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 161999
Professor John Loughlin
European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA1998
Professor John Loughlin
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia1998
Professor John Loughlin
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome1998
Professor John Loughlin
Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis1997
Professor John Loughlin
Genetic influences on osteoarthritis in women: a twin study1996
Professor John Loughlin
Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage1995
Professor John Loughlin
Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)1995
Professor John Loughlin
Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias1994
Professor John Loughlin
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene1994
Professor John Loughlin
Mutation screening by a combination of biotin-SSCP and direct sequencing1994
Professor John Loughlin
Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein1994