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Recent advances in elucidating the genetic basis of systemic sclerosis.
Villanueva-Martín G, Martín J, Bossini-Castillo L. Villanueva-Martín G, et al. Among authors: martin j. Curr Opin Rheumatol. 2022 Nov 1;34(6):295-301. doi: 10.1097/BOR.0000000000000897. Epub 2022 Aug 16. Curr Opin Rheumatol. 2022. PMID: 35979692 Review.
Identification of Mechanisms by Which Genetic Susceptibility Loci Influence Systemic Sclerosis Risk Using Functional Genomics in Primary T Cells and Monocytes.
González-Serna D, Shi C, Kerick M, Hankinson J, Ding J, McGovern A, Tutino M, Villanueva-Martin G, Ortego-Centeno N, Callejas JL, Martin J, Orozco G. González-Serna D, et al. Among authors: martin j. Arthritis Rheumatol. 2023 Jun;75(6):1007-1020. doi: 10.1002/art.42396. Epub 2023 Apr 9. Arthritis Rheumatol. 2023. PMID: 36281738 Free PMC article.
The Effect of Body Fat Distribution on Systemic Sclerosis.
Villanueva-Martin G, Acosta-Herrera M, Kerick M, López-Isac E, Simeón CP, Callejas JL, Assassi S, Beretta L, SSc Group I, Asig ASIG, Allanore Y, Proudman SM, Nikpour M, Fonseca C, Denton CP, Radstake TRDJ, Mayes MD, Jiang X, Martin J, Bossini-Castillo L. Villanueva-Martin G, et al. Among authors: martin j. J Clin Med. 2022 Oct 12;11(20):6014. doi: 10.3390/jcm11206014. J Clin Med. 2022. PMID: 36294335 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. Among authors: martin je, martin j. 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.
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. Among authors: martin j. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 Free PMC article.
Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci.
Li T, Ortiz-Fernández L, Andrés-León E, Ciudad L, Javierre BM, López-Isac E, Guillén-Del-Castillo A, Simeón-Aznar CP, Ballestar E, Martin J. Li T, et al. Among authors: martin j. Genome Med. 2020 Sep 25;12(1):81. doi: 10.1186/s13073-020-00779-6. Genome Med. 2020. PMID: 32977850 Free PMC article.
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