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

Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients

Autor: Geir Bjørklund, Emőke Endreffy, László Szerafin, Mauricio A. Urbina, Ildikó Endreffy, Salvatore Chirumbolo

Publikováno v: Immunologic Research. 65:1025-1030

Human α-fucosidase (EC 3.2.1.51) is an enzyme (hydrolase) of particular biological and medical interest, as the inherited deficiency in its activity leads to fucosidosis, a pathology belonging to severe glycoprotein lysosomal storage disorders. Alth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f5b83943927453a497a7922f49f497b
https://doi.org/10.1007/s12026-017-8943-x

Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients

Autor: Zoltán Maróti, Emőke Endreffy, Ákos Baráth, Marianna Zsom, Tibor Fülöp, Lajos Zsom

Publikováno v: Hemodialysis International. 15:501-508

The relationship between renal disease progression and genetic polymorphism of enzymes influencing endothelial function remains incompletely understood. We genotyped three cohorts of elderly Hungarian patients: 245 patients with end-stage renal disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b087a3448bdccef239b89c0d6de428c4
https://doi.org/10.1111/j.1542-4758.2011.00593.x

Increased heme oxygenase-1 expression in premature infants with respiratory distress syndrome

Autor: Emőke Endreffy, Zoltán Maróti, Ildikó Farkas, Sándor Túri, Péter Monostori, Krisztina Mader, Márta Katona

Publikováno v: European Journal of Pediatrics. 167:1379-1383

Oxidative stress is known to play an important role in the pathogenesis of certain severe illnesses in preterm infants. The enzyme heme oxygenase-1 (HO-1) participates in cytoprotection against oxygen radical injury. We have previously described the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa10dabf99f8ea313838633f24497324
https://doi.org/10.1007/s00431-008-0673-6

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Autor: Zoltán Maróti, Béla Iványi, Emőke Endreffy, Csaba Bereczki, Mária Sinkó, Gábor M. Kovács, Csaba Rikker, Sándor Túri, Ibolya Haszon, Tibor Kalmár, Zoltán Ondrik

Publikováno v: PLoS ONE
PLoS ONE, Vol 11, Iss 3, p e0149241 (2016)

Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even befor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47ff8e53b8bdf7d2de724e0d3f1f407
https://pubmed.ncbi.nlm.nih.gov/26934356