Publications by Professor John Loughlin - ePrints

Browsing publications by Professor John Loughlin.

Newcastle Authors	Title	Year
Jack Roberts Olivia Boldvig Guillaume Aubourg Sai Kanchenapally Professor David Deehan et al.	Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence	2024
Professor John Loughlin	Three decades of osteoarthritis molecular genetics research: From early discussions to impressive breakthroughs	2024
Dr Paweł Widera Dr Samuel Danso Professor John Loughlin Professor Jaume Bacardit	Development and validation of a machine learning-supported strategy of patient selection for osteoarthritis clinical trials	2023
Dr Sarah Rice Abby Brumwell Julia Falk Yulia Kehayova John Casement et al.	Genetic risk of osteoarthritis operates during human skeletogenesis	2023
Yulia Kehayova Dr Sarah Rice Professor John Loughlin	Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2	2023
Yulia Kehayova Dr Sarah Rice Professor John Loughlin	Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues	2023
Guillaume Aubourg Dr Sarah Rice Professor John Loughlin	Genetics of osteoarthritis	2022
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 risk	2022
Professor John Loughlin Dr Paweł Widera Professor Jaume Bacardit	Predicted and actual 2-year structural and pain progression in the IMI-APPROACH knee osteoarthritis cohort	2022
Professor John Loughlin	Research priorities to reduce the impact of musculoskeletal disorders: a priority setting exercise with the child health and nutrition research initiative method	2022
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 ahead	2022
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 Joint	2021
Yulia Kehayova Professor John Loughlin Dr Sarah Rice	Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis	2021
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 gene	2021
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 Susceptibility	2021
Professor John Loughlin	Neuropathic pain in the IMI-APPROACH knee osteoarthritis cohort: prevalence and phenotyping	2021
Professor John Loughlin	Osteoarthritis Research Society International (OARSI): Past, present and future	2021
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 markers	2020
Dr Sarah Rice Professor David Young Professor John Loughlin	Interplay between genetics and epigenetics in osteoarthritis	2020
Dr Paweł Widera Professor John Loughlin Professor Jaume Bacardit	Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data	2020
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 PLEC	2020
Professor John Loughlin	The use of technology in the subcategorisation of osteoarthritis: a Delphi study approach	2020
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 signals	2019
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 MGP	2019
Dr Sarah Rice Dr Colin Shepherd Professor John Loughlin	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity	2019
Professor John Loughlin	GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures	2019
Dr Sarah Rice Kat Cheung Dr Louise Reynard Professor John Loughlin	Identification and analysis of novel methylation quantitative trait loci (mQTLs) in osteoarthritis	2019
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 loci	2019
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 GDF5	2018
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 ARHGDIB	2018
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 risk	2018
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 gene	2018
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 GDF5	2017
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 signal	2017
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 SNPs	2017
Dr David Almarza Gomez Professor John Loughlin	Genome editing for human osteoarthritis - a perspective	2017
Dr Louise Reynard Andrew Skelton David Young Professor John Loughlin	The first international workshop on the epigenetics of osteoarthritis	2017
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 osteoarthritis	2017
Professor John Loughlin Dr Carole Proctor	A proteomic analysis of chondrogenic, osteogenic and tenogenic constructs from ageing mesenchymal stem cells	2016
Dr Michael Rushton Professor John Loughlin Dr Carole Proctor	Age-related Changes in Mesenchymal Stem Cells Identified Using a Multi-omics Approach	2016
Andrew Skelton Dr Rodolfo Gomez Professor John Loughlin Dr Louise Reynard	Age-related DNA methylation changes in normal and osteoarthritis cartilage	2016
Michael Rushton Professor John Loughlin Dr Carole Proctor	Decoding the regulatory landscape of ageing in musculoskeletal engineered tissues using genome-wide DNA methylation and RNASeq	2016
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 differentiation	2016
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 expression	2016
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 rs11842874	2016
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 study	2016
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 osteoarthritis	2016
Dr Louise Reynard Professor John Loughlin	Investigating the effects of high-glucose exposure on DNA methylation and gene transcription in musculoskeletal cells	2016
Professor John Loughlin	Translation of clinical problems in osteoarthritis into pathophysiological research goals	2016
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 rs116855380	2015
Fabio D'agostino Professor John Loughlin	Development of successful bio-preservation strategies for cell therapy medicinal products	2015
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 patients	2015
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 patients	2015
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 rs11842874	2015
Dr Katherine Johnson Dr Louise Reynard Professor John Loughlin	Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591	2015
Professor John Loughlin	Genetic contribution to osteoarthritis development: current state of evidence	2015
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 loci	2015
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 risk	2015
Professor John Loughlin Dr Louise Reynard	Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA	2015
Professor John Loughlin Dr Louise Reynard	Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA	2015
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 locus	2015
Emma Rogers Dr Louise Reynard Professor John Loughlin	The role of inflammation-related genes in osteoarthritis	2015
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 hip	2014
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 signal	2014
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 SPCS1	2014
Professor Andrew McCaskie Professor John Loughlin	Assessment of osteoarthritis candidate genes in a meta-analysis of 9 genome-wide association studies	2014
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 analysis	2014
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 osteoarthritis	2014
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 rs143383	2014
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 cells	2014
Dr Katherine Johnson Dr Louise Reynard Professor John Loughlin	Functional analysis of the osteoarthritis susceptibility locus marked by the polymorphism rs10492367	2014
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 CHST11	2014
Dr Madhushika Ratnayake Dr Mauro Santibanez Koref Professor John Loughlin	Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF5	2014
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 syndrome	2014
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 syndrome	2014
Professor John Loughlin	New functional microsatellite associated with osteoarthritis susceptibility	2014
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 tissues	2014
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 expression	2013
Dr Emma Raine Andrew Dodd Dr Louise Reynard Professor John Loughlin	Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues	2013
Professor John Loughlin Professor Andrew McCaskie	Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data	2013
Dr Louise Reynard Professor John Loughlin	Insights from human genetic studies into the pathways involved in osteoarthritis	2013
Professor 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 controls	2013
Professor John Loughlin	The Epigenetic Influences in Osteoarthritis	2013
Dr Louise Reynard Professor John Loughlin	The genetics and functional analysis of primary osteoarthritis susceptibility	2013
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 rs143383	2013
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 site	2012
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 neuropathy	2012
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 COL11A1	2012
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 MICAL3	2012
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 MICAL3	2012
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 MICAL3	2012
Dr Emma Raine Dr Louise Reynard Professor John Loughlin	Allelic expression analysis, and association with OA, of common variants in SMAD3	2012
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 study	2012
Professor John Loughlin	Association of a BMP5 microsatellite with knee osteoarthritis	2012
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 II	2012
Dr Louise Reynard Professor John Loughlin	Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22	2012
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 7q22	2012
Dr Louise Reynard Professor John Loughlin	Genetics and epigenetics of osteoarthritis	2012
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 study	2012
Dr Emma Raine Professor Fraser Birrell Professor Andrew McCaskie Professor John Loughlin	Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study	2012
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 OA	2012
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 OA	2012
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 tissues	2012
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 rs143383	2012
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 RS143383	2012
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 risk	2012
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 immunodeficiency	2012
Professor John Loughlin Professor Andrew McCaskie	A variant in MCF2L is associated with osteoarthritis	2011
Andrew Dodd Dr Louise Reynard Professor John Loughlin	Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus	2011
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 deficiency	2011
Dr Louise Reynard Dr Catherine Bui Professor David Young Professor John Loughlin	Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation	2011
Professor John Loughlin	Genetic indicators and susceptibility to osteoarthritis	2011
Professor John Loughlin	Genetics of osteoarthritis	2011
Professor Andrew McCaskie Professor John Loughlin	Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study	2011
Professor John Loughlin	Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap	2011
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 susceptibility	2011
Professor John Loughlin Professor Andrew McCaskie	Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22	2011
Professor John Loughlin	Osteoarthritis year 2010 in review: genetics	2011
Professor John Loughlin	Osteoarthritis: All types of trouble-defining OA in the genomic era	2011
Professor John Loughlin	Summary of the OA biomarkers workshop 2010 – genetics and genomics: new targets in OA	2011
Professor John Loughlin Professor Andrew McCaskie	The effect of genome-wide association scan quality control on imputation outcome for common variants	2011
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 immunodeficiency	2011
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 7q22	2010
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 osteoarthritis	2010
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 COGS	2010
Professor John Loughlin	BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model	2010
Professor John Loughlin	Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis	2010
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 study	2010
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 gene	2010
Steffan Bos Professor John Loughlin	Functional characterization of OA risk polymorphism RS225014 at DI02 in human OA cartilage	2010
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 hypoparathyroidism	2010
Dr Kaye Chapman Professor John Loughlin	Interleukin-1 region meta-analysis with osteoarthritis phenotypes	2010
Professor Andrew McCaskie Professor John Loughlin	The Arcogen Consortium: Stage 1 of a genome-wide association scan for osteoarthritis	2010
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 lines	2010
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 osteoarthritis	2009
Professor John Loughlin	Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis	2009
Professor John Loughlin	Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes	2009
Dr Kaye Chapman Professor John Loughlin	Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism	2009
Professor John Loughlin	Genetics and osteoarthritis: implications for the clinic	2009
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 populations	2009
Professor John Loughlin Steffan Bos	Large-scale analysis of association between GDF5 (rs143383) and FRZB (rs7775 and rs288326) variants and hip, knee and hand osteoarthritis	2009
Dr Kaye Chapman Professor John Loughlin	Large-Scale Analysis of Association Between GDF5 and FRZB Variants and Osteoarthritis of the Hip, Knee, and Hand	2009
Professor John Loughlin	Testing the druggable EDG2 knee OA genetic factor for replication in a wide range of sample collections	2009
Professor John Loughlin	The role of genetic susceptibility in osteoarthritis development	2009
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 susceptibility	2008
Professor John Loughlin Dr Kaye Chapman	Big is beautiful	2008
Professor John Loughlin	Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review	2008
Professor John Loughlin	Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis	2008
Professor John Loughlin	Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis	2008
Steffan Bos Dr Mitsushiro Nakatomi Professor John Loughlin	Identification of DIO2 as new susceptibility locus for symptomatic Osteoarthritis	2008
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-3	2008
Professor John Loughlin	Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility	2007
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 cartilage	2007
Professor John Loughlin	Extreme context specificity in differential allelic expression	2007
Professor John Loughlin	Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus	2007
Professor John Loughlin	Genetic association analysis of RHOB and TXNDC3 in osteoarthritis	2007
Professor John Loughlin	Meta-analysis of association between the ASPN D-repeat and osteoarthritis	2007
Professor John Loughlin	Osteoarthritis genetics: current status and future prospects	2007
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 knee	2007
Professor John Loughlin	Variation in the secreted frizzled-related protein-3 gene and risk of Osteolysis and heterotopic ossification after total hip arthroplasty	2007
Professor John Loughlin	Association analysis of the interleukin 17 genes IL17A and IL17F as potential osteoarthritis susceptibility loci	2006
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 al	2006
Professor John Loughlin	Osteoarthritis linkage scan: more loci for the geneticists to investigate	2006
Dr Kaye Chapman Professor John Loughlin	Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al	2006
Professor John Loughlin	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women	2006
Professor John Loughlin Dr Kaye Chapman	The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population	2006
Professor John Loughlin	Crystals in hand	2005
Professor John Loughlin	Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q	2005
Professor John Loughlin	Genetic background increases the risk of hip osteoarthritis	2005
Professor John Loughlin	Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population	2005
Professor John Loughlin	Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting	2005
Professor John Loughlin	Recent advances in the genetic investigation of osteoarthritis	2005
Professor John Loughlin	The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee	2005
Professor John Loughlin	The genetic epidemiology of human primary osteoarthritis: current status	2005
Professor John Loughlin	Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis	2004
Professor John Loughlin	Familial inheritance of osteoarthritis: documented family subsets	2004
Dr Kaye Chapman Professor John Loughlin	Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women	2004
Professor John Loughlin	Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females	2004
Professor John Loughlin	Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13	2004
Professor John Loughlin	Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women	2003
Professor John Loughlin	Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene	2003
Professor John Loughlin	Genetics of osteoarthritis and potential for drug development	2003
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 expression	2002
Professor John Loughlin	Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis	2002
Professor John Loughlin	Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6	2002
Professor John Loughlin	Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs	2002
Professor John Loughlin	Genome studies and linkage in primary osteoarthritis	2002
Professor John Loughlin	Refined linkage mapping of a hip osteoarthritis susceptibility locus on chromosome 2q	2002
Professor John Loughlin	Genetic epidemiology of primary osteoarthritis	2001
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 dysplasia	2001
Professor Michael Briggs Professor John Loughlin	Mutations in the vWFA domain of matrilin-3 cause multiple epiphyseal dysplasia	2001
Professor John Loughlin	Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al	2000
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 osteoarthritis	2000
Professor John Loughlin	Germline and somatic mosaicism in achondroplasia	2000
Dr Kaye Chapman Professor John Loughlin	Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis	2000
Professor John Loughlin Dr Kaye Chapman	Linkage analysis of chromosome 2q in osteoarthritis	2000
Professor John Loughlin	Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity	1999
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 dysplasia	1999
Professor John Loughlin	Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage	1999
Professor John Loughlin	Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16	1999
Professor John Loughlin	European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA	1998
Professor John Loughlin	Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia	1998
Professor John Loughlin	Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome	1998
Professor John Loughlin	Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis	1997
Professor John Loughlin	Genetic influences on osteoarthritis in women: a twin study	1996
Professor John Loughlin	Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage	1995
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 chondrodysplasias	1994
Professor John Loughlin	Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene	1994
Professor John Loughlin	Mutation screening by a combination of biotin-SSCP and direct sequencing	1994
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 protein	1994