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Page 1
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Martínez-López J, Márquez A, Pegoraro F, Ortiz-Fernández L, Acosta-Herrera M, Kerick M, Gelain E, Diamond EL, Durham BH, Abdel-Wahab O, Go RS, Koster MJ, Dagna L, Campochiaro C, Collin M, Milne P, Estrada-Veras JI, O'Brien K, Papo M, Cohen-Aubar F, Amoura Z, Haroche J, Martín J, Vaglio A. Martínez-López J, et al. Among authors: ortiz fernandez l. Arthritis Rheumatol. 2024 Jan;76(1):141-145. doi: 10.1002/art.42673. Epub 2023 Nov 7. Arthritis Rheumatol. 2024. PMID: 37561109
Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.
Ortiz-Fernández L, Carmona EG, Kerick M, Lyons P, Carmona FD, López Mejías R, Khor CC, Grayson PC, Tombetti E, Jiang L, Direskeneli H, Saruhan-Direskeneli G, Callejas-Rubio JL, Vaglio A, Salvarani C, Hernández-Rodríguez J, Cid MC, Morgan AW, Merkel PA, Burgner D, Smith KG, Gonzalez-Gay MA, Sawalha AH, Martin J, Marquez A. Ortiz-Fernández L, et al. Ann Rheum Dis. 2023 Jun;82(6):837-847. doi: 10.1136/ard-2022-223697. Epub 2023 Feb 16. Ann Rheum Dis. 2023. PMID: 36797040 Free PMC article.
Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids.
Estupiñán-Moreno E, Ortiz-Fernández L, Li T, Hernández-Rodríguez J, Ciudad L, Andrés-León E, Terron-Camero LC, Prieto-González S, Espígol-Frigolé G, Cid MC, Márquez A, Ballestar E, Martín J. Estupiñán-Moreno E, et al. Among authors: ortiz fernandez l. Ann Rheum Dis. 2022 Aug 11;81(9):1290-1300. doi: 10.1136/annrheumdis-2022-222156. Ann Rheum Dis. 2022. PMID: 35705375 Free PMC article.
HLA-DRB1 association with Henoch-Schonlein purpura.
López-Mejías R, Genre F, Pérez BS, Castañeda S, Ortego-Centeno N, Llorca J, Ubilla B, Remuzgo-Martínez S, Mijares V, Pina T, Calvo-Río V, Márquez A, Sala-Icardo L, Miranda-Filloy JA, Conde-Jaldón M, Ortiz-Fernández L, Rubio E, León Luque M, Blanco-Madrigal JM, Galíndez-Aguirregoikoa E, González-Vela MC, Ocejo-Vinyals JG, González Escribano F, Martín J, Blanco R, González-Gay MA. López-Mejías R, et al. Arthritis Rheumatol. 2015 Mar;67(3):823-827. doi: 10.1002/art.38979. Epub 2014 Dec 2. Arthritis Rheumatol. 2015. PMID: 25470797
Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease.
Ortiz Fernández L, Coit P, Yilmaz V, Yentür SP, Alibaz-Oner F, Aksu K, Erken E, Düzgün N, Keser G, Cefle A, Yazici A, Ergen A, Alpsoy E, Salvarani C, Casali B, Kısacık B, Kötter I, Henes J, Çınar M, Schaefer A, Nohutcu RM, Zhernakova A, Wijmenga C, Takeuchi F, Harihara S, Kaburaki T, Messedi M, Song YW, Kaşifoğlu T, Carmona FD, Guthridge JM, James JA, Martin J, González Escribano MF, Saruhan-Direskeneli G, Direskeneli H, Sawalha AH. Ortiz Fernández L, et al. Arthritis Rheumatol. 2021 Jul;73(7):1244-1252. doi: 10.1002/art.41637. Epub 2021 May 18. Arthritis Rheumatol. 2021. PMID: 33393726 Free PMC article.
The role of a functional variant of TYK2 in vasculitides and infections.
Ortiz-Fernández L, López-Mejias R, Carmona FD, Castaño-Nuñez AL, Lyons PA, Caruz A, Gónzalez-Escribano MF, Smith KGC, González-Gay MA, Martin J; Spanish GCA Study Group, IgAV Study Group, AAV Study Group and HIV Study Group. Ortiz-Fernández L, et al. Clin Exp Rheumatol. 2020 Sep-Oct;38(5):949-955. Epub 2020 Mar 10. Clin Exp Rheumatol. 2020. PMID: 32167874 Free article.
Variants of the IFI16 gene affecting the levels of expression of mRNA are associated with susceptibility to Behçet disease.
Ortiz-Fernández L, García-Lozano JR, Montes-Cano MA, Conde-Jaldón M, Ortego-Centeno N, García-Hernández FJ, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Blanco R, Barnosi-Marín AC, Solans R, Fanlo P, Rodríguez-Carballeira M, Camps T, Castañeda S, Núñez-Roldán A, Martín J, González-Escribano MF. Ortiz-Fernández L, et al. J Rheumatol. 2015 Apr;42(4):695-701. doi: 10.3899/jrheum.140949. Epub 2015 Feb 1. J Rheumatol. 2015. PMID: 25641891
Association of HLA-B*41:02 with Henoch-Schönlein Purpura (IgA Vasculitis) in Spanish individuals irrespective of the HLA-DRB1 status.
López-Mejías R, Genre F, Pérez BS, Castañeda S, Ortego-Centeno N, Llorca J, Ubilla B, Remuzgo-Martínez S, Mijares V, Pina T, Calvo-Río V, Márquez A, Miranda-Filloy JA, Parejo AN, Conde-Jaldón M, Ortiz-Fernández L, Argila D, Aragües M, Rubio E, Luque ML, Blanco-Madrigal JM, Galíndez-Aguirregoikoa E, González Escribano F, Ocejo-Vinyals JG, Martín J, Blanco R, González-Gay MA. López-Mejías R, et al. Arthritis Res Ther. 2015 Apr 14;17(1):102. doi: 10.1186/s13075-015-0622-5. Arthritis Res Ther. 2015. PMID: 25889603 Free PMC article.
38 results