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Page 1
Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.
López-Isac E, Bossini-Castillo L, Palma AB, Assassi S, Mayes MD, Simeón CP, Ortego-Centeno N, Vicente E, Tolosa C, Rubio-Rivas M, Román-Ivorra JA, Beretta L, Moroncini G, Hunzelmann N, Distler JHW, Riemekasten G, de Vries-Bouwstra J, Voskuyl AE, Radstake TRDJ, Herrick A, Denton CP, Fonseca C, Martín J. López-Isac E, et al. Among authors: vicente e. Arthritis Rheumatol. 2017 Jun;69(6):1337-1338. doi: 10.1002/art.40058. Epub 2017 May 9. Arthritis Rheumatol. 2017. PMID: 28141915 Free article. No abstract available.
Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies.
López-Isac E, Martín JE, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, Freire M, Beltrán E, Narváez J, Alegre-Sancho JJ; Spanish Scleroderma Group; Fernández-Gutiérrez B, Balsa A, Ortiz AM, González-Gay MA, Beretta L, Santaniello A, Bellocchi C, Lunardi C, Moroncini G, Gabrielli A, Witte T, Hunzelmann N, Distler JH, Riekemasten G, van der Helm-van Mil AH, de Vries-Bouwstra J, Magro-Checa C, Voskuyl AE, Vonk MC, Molberg Ø, Merriman T, Hesselstrand R, Nordin A, Padyukov L, Herrick A, Eyre S, Koeleman BP, Denton CP, Fonseca C, Radstake TR, Worthington J, Mayes MD, Martín J. López-Isac E, et al. Arthritis Rheumatol. 2016 Sep;68(9):2338-44. doi: 10.1002/art.39730. Arthritis Rheumatol. 2016. PMID: 27111665 Free PMC article.
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, de Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P; Spanish Scleroderma Group; Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J. Gorlova O, et al. PLoS Genet. 2011 Jul;7(7):e1002178. doi: 10.1371/journal.pgen.1002178. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779181 Free PMC article.
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeón CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Fernández Castro M; Spanish Scleroderma Group; Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm Ø, Hesselstrand R, Nordin A, Airó P, Lunardi C, Scorza R, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Tan FK, Arnett FC, Agarwal SK, Assassi S, Fonseca C, Mayes MD, Radstake TR, Martin J. Bossini-Castillo L, et al. Hum Mol Genet. 2012 Feb 15;21(4):926-33. doi: 10.1093/hmg/ddr522. Epub 2011 Nov 10. Hum Mol Genet. 2012. PMID: 22076442 Free PMC article.
Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.
Teruel M, Simeon CP, Broen J, Vonk MC, Carreira P, Camps MT, García-Portales R, Delgado-Frías E, Gallego M, Espinosa G; Spanish Scleroderma Group; Beretta L, Airó P, Lunardi C, Riemekasten G, Witte T, Krieg T, Kreuter A, Distler JH, Hunzelmann N, Koeleman BP, Voskuyl AE, Schuerwegh AJ, González-Gay MA, Radstake TR, Martin J. Teruel M, et al. Arthritis Res Ther. 2012 Jun 25;14(3):R154. doi: 10.1186/ar3890. Arthritis Res Ther. 2012. PMID: 22731751 Free PMC article.
The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
Carmona FD, Martin JE, Beretta L, Simeón CP, Carreira PE, Callejas JL, Fernández-Castro M, Sáez-Comet L, Beltrán E, Camps MT, Egurbide MV; Spanish Scleroderma Group; Airó P, Scorza R, Lunardi C, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Madhok R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Schuerwegh AJ, Vonk MC, Voskuyl AE, Radstake TR, Martín J. Carmona FD, et al. PLoS One. 2013;8(1):e54419. doi: 10.1371/journal.pone.0054419. Epub 2013 Jan 23. PLoS One. 2013. PMID: 23372721 Free PMC article.
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ; Spanish Scleroderma Group; Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, Schuerwegh AJ, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Wigley FM, Hummers LK, Varga J, Hinchcliff ME, Baron M, Hudson M, Pope JE, Furst DE, Khanna D, Phillips K, Schiopu E, Segal BM, Molitor JA, Silver RM, Steen VD, Simms RW, Lafyatis RA, Fessler BJ, Frech TM, Alkassab F, Docherty P, Kaminska E, Khalidi N, Jones HN, Markland J, Robinson D, Broen J, Radstake TR, Fonseca C, Koeleman BP, Martin J. Mayes MD, et al. Am J Hum Genet. 2014 Jan 2;94(1):47-61. doi: 10.1016/j.ajhg.2013.12.002. Am J Hum Genet. 2014. PMID: 24387989 Free PMC article.
Association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis-related calcinosis.
Duffus K, López-Isac E, Teruel M, Simeón CP, Carreria P, Ortego-Centeno N, Vicente E, Worthington J, Herrick AL, Martin J. Duffus K, et al. Among authors: vicente e. Rheumatology (Oxford). 2019 Jul 1;58(7):1299-1301. doi: 10.1093/rheumatology/kez015. Rheumatology (Oxford). 2019. PMID: 30789234 No abstract available.
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A, Padyukov L, Hoffmann-Vold AM, Lie B; European Scleroderma Group†; Proudman S, Stevens W, Nikpour M; Australian Scleroderma Interest Group (ASIG); Vyse T, Herrick AL, Worthington J, Denton CP, Allanore Y, Brown MA, Radstake TRDJ, Fonseca C, Chang HY, Mayes MD, Martin J. López-Isac E, et al. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 Free PMC article.
490 results