Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

Autor: Elisa Alonso-Perez, Marian Suarez-Gestal, Manuel Calaza, Josep Ordi-Ros, Eva Balada, Marc Bijl, Chryssa Papasteriades, Patricia Carreira, Fotini N Skopouli, Torsten Witte, Emöke Endreffy, Maurizio Marchini, Sergio Migliaresi, Gian Domenico Sebastiani, Maria Jose Santos, Ana Suarez, Francisco J Blanco, Nadia Barizzone, Rudolf Pullmann, Sarka Ruzickova, Bernard R Lauwerys, Juan J Gomez-Reino, Antonio Gonzalez, European Consortium of SLE DNA Collections

Publikováno v: PLoS ONE, Vol 7, Iss 9, p e45356 (2012)

IntroductionSystemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SL

Externí odkaz: https://doaj.org/article/d692975c5ef74c0bb689b2d428e6b30c

Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: an 11-year follow-up

Autor: AS Charonis, IB Petri, I Haszon, Sándor Túri, P Szenohradszky, RJ Butkowski, Béla Iványi, Emöke Endreffy, Tibor Kalmár

Publikováno v: Scopus-Elsevier

Childhood membranous nephropathy (MNP) with anti-tubular basement membrane (anti-TBM) nephritis is a rare disorder that may have extrarenal manifestations. This article describes a new case to be added to the 10 previously reported. A renal biopsy sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a0b4f6401c1c91ccc9d4979182de3d
https://pubmed.ncbi.nlm.nih.gov/9856526

Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

Autor: Sándor Sonkodi, Jenö Ormos, Marta Magyari, Sándor Túri, Béla Iványi, Gábor Zsurka, Emöke Endreffy, Pál Venetianer

Publikováno v: Human genetics. 99(4)

Renal biopsy of two children and a maternal relative, diagnosed with severe progressive tubulointerstitial nephritis, has shown the presence of distorted mitochondria. Mitochondrial DNA from the blood of these patients was analysed. No major deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6616613895a8794dbdb24d996be65bea
https://pubmed.ncbi.nlm.nih.gov/9099838

Transancestral mapping and genetic load in systemic lupus erythematosus

Autor: Carl D. Langefeld, Hannah C. Ainsworth, Deborah S. Cunninghame Graham, Jennifer A. Kelly, Mary E. Comeau, Miranda C. Marion, Timothy D. Howard, Paula S. Ramos, Jennifer A. Croker, David L. Morris, Johanna K. Sandling, Jonas Carlsson Almlöf, Eduardo M. Acevedo-Vásquez, Graciela S. Alarcón, Alejandra M. Babini, Vicente Baca, Anders A. Bengtsson, Guillermo A. Berbotto, Marc Bijl, Elizabeth E. Brown, Hermine I. Brunner, Mario H. Cardiel, Luis Catoggio, Ricard Cervera, Jorge M. Cucho-Venegas, Solbritt Rantapää Dahlqvist, Sandra D’Alfonso, Berta Martins Da Silva, Iñigo de la Rúa Figueroa, Andrea Doria, Jeffrey C. Edberg, Emőke Endreffy, Jorge A. Esquivel-Valerio, Paul R. Fortin, Barry I. Freedman, Johan Frostegård, Mercedes A. García, Ignacio García de la Torre, Gary S. Gilkeson, Dafna D. Gladman, Iva Gunnarsson, Joel M. Guthridge, Jennifer L. Huggins, Judith A. James, Cees G. M. Kallenberg, Diane L. Kamen, David R. Karp, Kenneth M. Kaufman, Leah C. Kottyan, László Kovács, Helle Laustrup, Bernard R. Lauwerys, Quan-Zhen Li, Marco A. Maradiaga-Ceceña, Javier Martín, Joseph M. McCune, David R. McWilliams, Joan T. Merrill, Pedro Miranda, José F. Moctezuma, Swapan K. Nath, Timothy B. Niewold, Lorena Orozco, Norberto Ortego-Centeno, Michelle Petri, Christian A. Pineau, Bernardo A. Pons-Estel, Janet Pope, Prithvi Raj, Rosalind Ramsey-Goldman, John D. Reveille, Laurie P. Russell, José M. Sabio, Carlos A. Aguilar-Salinas, Hugo R. Scherbarth, Raffaella Scorza, Michael F. Seldin, Christopher Sjöwall, Elisabet Svenungsson, Susan D. Thompson, Sergio M. A. Toloza, Lennart Truedsson, Teresa Tusié-Luna, Carlos Vasconcelos, Luis M. Vilá, Daniel J. Wallace, Michael H. Weisman, Joan E. Wither, Tushar Bhangale, Jorge R. Oksenberg, John D. Rioux, Peter K. Gregersen, Ann-Christine Syvänen, Lars Rönnblom, Lindsey A. Criswell, Chaim O. Jacob, Kathy L. Sivils, Betty P. Tsao, Laura E. Schanberg, Timothy W. Behrens, Earl D. Silverman, Marta E. Alarcón-Riquelme, Robert P. Kimberly, John B. Harley, Edward K. Wakeland, Robert R. Graham, Patrick M. Gaffney, Timothy J. Vyse

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-18 (2017)

Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong ethnic and gender bias. In a transancestral genetic association study, Langefeldet al. identify 24 novel regions associated with risk to lupus and propose a cumulative hits hyp

Externí odkaz: https://doaj.org/article/a68227bc3ba0457486591e4743061bf9

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