Publications and Preprints

Recent Publications

Brumwell, A., Aubourg, G., Hussain, J., Parker, E., Deehan, D. J., Rice, S. J., & Loughlin, J. (2022). Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk. Arthritis research & therapy24(1), 189.


Jack Brian Roberts, Olivia Lucy Georgina Boldvig, Guillaume Aubourg et al. Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence, 05 January 2024, PREPRINT (Version 1) available at Research Square []

Past Publications

Rice SJ, Roberts JB, Tselepi M, Brumwell A, Falk J, Steven C, Loughlin J. Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic JointArthritis and Rheumatology 2021, 73(10), 1866-1877.
Kehayova YS, Watson E, Wilkinson JM, Loughlin J, Rice SJ. Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With OsteoarthritisArthritis and Rheumatology 2021, 73(10), 1856-1865.
Aubourg G, Rice SJ, Bruce-Wootton P, Loughlin J. Genetics of osteoarthritisOsteoarthritis and Cartilage 2022, 30(5), 636-649.
Boer CG, Yau MS, Rice SJ, Coutinho de Almeida R, Cheung K, Styrkarsdottir U, Southam L, Broer L, Wilkinson JM, Uitterlinden AG, Zeggini E, Felson D, Loughlin J, Young M, Capellini TD, Meulenbelt I, van Meurs JBJ. Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis geneAnnals of the Rheumatic Diseases 2021, 80(3), 367-375.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndromeBrain Communications 2021, 3(3), fcab163.
Parker E, Hofer IMJ, Rice SJ, Earl L, Anjum SA, Deehan DJ, Loughlin J. Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis SusceptibilityArthritis and Rheumatology 2021, 73(1), 100-109.
Rice SJ, Beier F, Young DA, Loughlin J. Interplay between genetics and epigenetics in osteoarthritisNature Reviews Rheumatology 2020, 16, 268-281.
Sorial AK, Hofer IM, Tselepi M, Cheung K, Parker E, Deehan DJ, Rice SJ, Loughlin J. Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLECOsteoarthritis and Cartilage 2020, 28(11), 1448-1458.
Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian familiesPediatric Nephrology 2019, 34, 1615-1623.
Willows J, Al Badi M, Richardson C, Al Sinani A, Edwards N, Rice SJ, Sayer JA. Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report F1000Research 2019, 8, 666.
Rice SJ, Cheung K, Reynard LN, Loughlin J. Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signalsOsteoarthritis and Cartilage 2019, 27(10), 1545-1556.
Klein JC, Keith A, Rice SJ, Shepherd C, Agarwal V, Loughlin J, Shendure J. Functional testing of thousands of osteoarthritis-associated variants for regulatory activityNature Communications 2019, 10, 2434.
Rice SJ, Cheung K, Reynard LN, Loughlin J. Identification and analysis of novel methylation quantitative trait loci (mQTLs) in osteoarthritisIn: Osteoarthritis and Cartilage. 2019, Toronto, Canada: Elsevier.
Rice SJ, Tselepi M, Sorial AK, Aubourg G, Shepherd C, Almarza D, Skelton AJ, Pangou I, Deehan DJ, Reynard L, Loughlin J. Prioritization of PLEC and GRINA as osteoarthritis risk genes through the identification and characterization of novel methylation quantitative trait lociArthritis and Rheumatology 2019, 71(8), 1285-1296.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionThe American Journal of Human Genetics 2018, 103(4), 612-620.
Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutationsPhysiological Reports 2018, 6(12), e13715.
Delpiano L, Thomas JJ, Yates AR, Rice SJ, Gray MA, Saint-Criq V. Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial CellsFrontiers in Pharmacology 2018, 9, 1462.
Rice SJ, Aubourg G, Sorial AK, Almarza D, Tselepi M, Deehan DJ, Reynard LN, Loughlin J. Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis riskHuman Molecular Genetics 2018, 27(19), 3464-3474.
Rice SJ, Sorial AK, Aubourg G, Shepherd C, Tselepi M, Almarza D, Skelton AJ, Deehan D, Reynard LN, Loughlin J. Identification of novel methylation quantitative trait loci (mqtls) and functional characterization using CRISPR/CAS9 and gene expression analysis prioritizes PLEC as an OA risk geneIn: 2018 OARSI World Congress on Osteoarthritis Promoting Clinical and Basic Research in Osteoarthritis. 2018, Liverpool: Elsevier.
Rice SJ, Aubourg G, Sorial AK, Deehan D, Loughlin J, Reynard LN. 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 signalIn: 2017 OARSI World Congress. 2017, Las Vegas, NV, USA.
Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale D, Sayer JA. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’Clinical Kidney Journal 2015, 8(1), 113-119.
Rhodes HL, Yarram L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJM. Clinical and genetic analysis of patients with cystinuria in the UKClinical Journal of the American Society of Nephrology 2015, 10(7), 1235-1245.
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/NephrocalcinosisJournal of the American Society of Nephrology 2015, 26(3), 543-551.
Rice SJ, Thwaites DT, Halbritter J, Sayer JA. Cystinuria revisited: presentations with calcium-containing stones demands vigilance and screening in the stone clinicMedical & Surgical Urology 2014, 3(3), 1-2.