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  1. AU="de la Rua-Figueroa, Iñigo"
  2. AU="Manoharan, Shivani M"

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  1. Article ; Online: Full characterization of the three pathways of the complement system in patients with systemic lupus erythematosus.

    García-González, María / Gómez-Bernal, Fuensanta / Quevedo-Abeledo, Juan C / Fernández-Cladera, Yolanda / González-Rivero, Agustín F / de Vera-González, Antonia / de la Rua-Figueroa, Iñigo / López-Mejias, Raquel / Díaz-González, Federico / González-Gay, Miguel Á / Ferraz-Amaro, Iván

    Frontiers in immunology

    2023  Volume 14, Page(s) 1167055

    Abstract: Background: To date a complete characterization of the components of the complement (C) pathways (CLassical, LEctin and ALternative) in patients with systemic lupus erythematosus (SLE) has not been performed. We aimed to assess the function of these ... ...

    Abstract Background: To date a complete characterization of the components of the complement (C) pathways (CLassical, LEctin and ALternative) in patients with systemic lupus erythematosus (SLE) has not been performed. We aimed to assess the function of these three C cascades through functional assays and the measurement of individual C proteins. We then studied how they relate to clinical characteristics.
    Methods: New generation functional assays of the three pathways of the C system were assessed in 284 patients with SLE. Linear regression analysis was performed to study the relationship between the activity, severity, and damage of the disease and C system.
    Results: Lower values of the functional tests AL and LE were more frequent than those of the CL pathway. Clinical activity was not related to inferior values of C routes functional assays. The presence of increased DNA binding was negatively linked to all three C pathways and products, except for C1-inh and C3a which were positively related. Disease damage revealed a consistent positive, rather than a negative, relationship with pathways and C elements. Anti-ribosomes and anti-nucleosomes were the autoantibodies that showed a greater relationship with C activation, mainly due to the LE and CL pathways. Regarding antiphospholipid antibodies, the most related with C activation were IgG anti-β2GP, predominantly involving the AL pathway.
    Conclusion: Not only the CL route, but also the AL and LE are related to SLE features. C expression patterns are linked to disease profiles. While accrual damage was associated with higher functional tests of C pathways, anti-DNA, anti-ribosomes and anti-nucleosomes antibodies, were the ones that showed a higher relationship with C activation, mainly due to the LE and CL pathways.
    MeSH term(s) Humans ; Lupus Erythematosus, Systemic ; Autoantibodies ; Antibodies, Antiphospholipid ; Antibodies, Antinuclear ; Complement System Proteins
    Chemical Substances Autoantibodies ; Antibodies, Antiphospholipid ; Antibodies, Antinuclear ; Complement System Proteins (9007-36-7)
    Language English
    Publishing date 2023-04-21
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2023.1167055
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Deletions in

    Jiang, Simon H / Mercan, Sevcan / Papa, Ilenia / Moldovan, Max / Walters, Giles D / Koina, Mark / Fadia, Mitali / Stanley, Maurice / Lea-Henry, Tom / Cook, Amelia / Ellyard, Julia / McMorran, Brendan / Sundaram, Madhivanan / Thomson, Russell / Canete, Pablo F / Hoy, Wendy / Hutton, Holly / Srivastava, Monika / McKeon, Kathryn /
    de la Rúa Figueroa, Iñigo / Cervera, Ricard / Faria, Raquel / D'Alfonso, Sandra / Gatto, Mariele / Athanasopoulos, Vicki / Field, Matthew / Mathews, John / Cho, Eun / Andrews, Thomas D / Kitching, A Richard / Cook, Matthew C / Riquelme, Marta Alarcon / Bahlo, Melanie / Vinuesa, Carola G

    Cell reports. Medicine

    2021  Volume 2, Issue 12, Page(s) 100475

    Abstract: We identify an intronic deletion ... ...

    Abstract We identify an intronic deletion in
    MeSH term(s) Adult ; Aged ; Animals ; Antibodies/adverse effects ; Biopsy ; Carrier Proteins/genetics ; Cohort Studies ; DNA Copy Number Variations/genetics ; Gene Deletion ; Homozygote ; Humans ; Introns/genetics ; Kidney/metabolism ; Kidney/pathology ; Kidney Diseases/pathology ; Lupus Nephritis/genetics ; Membrane Proteins/deficiency ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice, Inbred C57BL ; Mice, Knockout ; Middle Aged ; Risk Factors ; Mice
    Chemical Substances Antibodies ; Carrier Proteins ; Membrane Proteins ; VANGL1 protein, human ; Vangl1 protein, mouse
    Language English
    Publishing date 2021-12-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2666-3791
    ISSN (online) 2666-3791
    DOI 10.1016/j.xcrm.2021.100475
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Transancestral mapping and genetic load in systemic lupus erythematosus.

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

    Nature communications

    2017  Volume 8, Page(s) 16021

    Abstract: Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and ... ...

    Abstract Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10
    MeSH term(s) Age of Onset ; American Indian or Alaska Native/genetics ; Black People/genetics ; Case-Control Studies ; Genetic Load ; HLA Antigens/genetics ; Hispanic or Latino/genetics ; Humans ; Logistic Models ; Lupus Erythematosus, Systemic/genetics ; Multifactorial Inheritance ; Mutagenesis, Insertional ; Polymorphism, Single Nucleotide ; Sequence Deletion ; White People/genetics
    Chemical Substances HLA Antigens
    Language English
    Publishing date 2017-07-17
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/ncomms16021
    Database MEDical Literature Analysis and Retrieval System OnLINE

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