Results 1 to 10 of about 675,301 (233)

Clinical features of patients with homozygous complement C4A or C4B deficiency. [PDF]

PLoS One, 2018
Homozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed.
Liesmaa I, Paakkanen R, Järvinen A, Valtonen V, Lokki ML.   +4 more
europepmc   +13 more sources

Complement C4A Regulates Autoreactive B Cells in Murine Lupus. [PDF]

Cell Rep, 2020
Systemic lupus erythematosus (SLE) is a severe autoimmune disease mediated by pathogenic autoantibodies. While complement protein C4 is associated with SLE, its isoforms (C4A and C4B) are not equal in their impact. Despite being 99% homologous, genetic studies identified C4A as more protective than C4B.
Simoni L, Presumey J, van der Poel CE, Castrillon C, Chang SE, Utz PJ, Carroll MC.   +6 more
europepmc   +9 more sources

Real-time PCR quantification of human complement C4A and C4B genes [PDF]

BMC Genetics, 2006
AbstractBackgroundThe fourth component of human complement (C4), an essential factor of the innate immunity, is represented as two isoforms (C4A and C4B) in the genome. Although these genes differ only in 5 nucleotides, the encoded C4A and C4B proteins are functionally different.
Zsolt Ronai, George Füst, Maria Sasvari-Szekely, Denes Szilassy, Ágnes Szilágyi, Bernadett Blaskó   +5 more
core   +12 more sources

Complement C4, C4A and C4a - What they do and how they differ. [PDF]

Brain Behav Immun Health
Heurich M, Föcking M, Cotter D.
europepmc   +7 more sources

Serum complement C4a and its relation to liver fibrosis in children with chronic hepatitis C. [PDF]

World J Hepatol, 2013
To evaluate serum complement C4a and its relation to liver fibrosis in children with chronic hepatitis C virus (HCV) infection.The study included 30 children with chronic HCV infection before receiving antiviral therapy. Chronic HCV infection was defined by positive anti-HCV, a positive polymerase chain reaction for HCV-RNA for more than 6 mo with ...
Behairy BE, El-Mashad GM, Abd-Elghany RS, Ghoneim EM, Sira MM.   +4 more
europepmc   +5 more sources

Low copy numbers of complement C4 and C4A deficiency are risk factors for myositis, its subgroups and autoantibodies [PDF]

Annals of the Rheumatic Diseases, 2023
Background Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterised by myositis-related autoantibodies plus infiltration of leucocytes into muscles and/or the skin, leading to the destruction of blood vessels and muscle ...
Abdul-Aziz, R, Akoghlanian, S, Ardoin, SP, Chinoy, H, Coss, S, Curiel, RV, Dang, A, De Bleecker, JL, De Paepe, B, Drew, J, Driest, K, Flegel, WA, King, EH, Krystufkova, O, Lamb, JA, Lundberg, IE, Lundström, E, Mamyrova, G, Miller, FW, Miller, KE, Nagaraja, HN, Notarnicola, A, O'Hanlon, TP, Oberle, E, Ollier, W, Pachman, LM, Padyukov, L, Payton, A, Rider, LG, Rothwell, S, Sivaraman, V, Spencer, CH, Targoff, IN, Vencovský, J, Wu, YL, Yu, CY, Yu, GR, Zhou, D   +37 more
core   +4 more sources

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis [PDF]

npj Genomic Medicine, 2022
Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk.
Acosta-Herrera, Marialbert, Aguilar-Quesada, Rocío, Aguirre, M. A., Aguirre-Zamorano, Ma Angeles, Airò, P., Alarcón-Riquelme, Marta Eugenia, Allanore, Yannick, Almeida, Isabel, Alonso, Ricardo Blanco, Andreu, J. L., Artusi, Carolina, Assassi, Shervin, Baerlecken, Niklas, Balog, Attila, Barton, Anne, Beltrán, E., Belz, Doreen, Beretta, Lorenzo, Bocskai, Márta, Brandão, Mariana, Callejas, José Luis, Campar, Ana, Carballeira, M. Rodríguez, Carreira, P., Castellvi, I., Castro-Villegas, Ma Carmen, Cervera, Ricard, Chizzolini, Carlo, Collantes, Eduardo, Cornec, Divi, de Castro, M. Fernández, de la Peña, P. García, De Langhe, Ellen, de Ramon, Enrique, de Vries-Bouwstra, Jeska K., Deák, Magdolna, Denton, Christopher P., Devauchelle-Pensec, Valérie, Distler, J. H. W., Díaz, B., Díaz, F., Ducreux, Julie, Dulic, Sonja, Egurbide, M. V., Escudero-Contreras, Alejandro, Espinosa, G., Espinosa, Gerard, Fanlo-Mateo, P., Faria, Raquel, Farinha, Fátima, Fernández-Gutiérrez, B., Fernández-Nebro, A., Fonollosa, V., Fonseca, Carmen, Freire, M., Gabrielli, A., Garcia, F. J. Blanco, García-Hernández, F. J., Gerl, Velia, Gerosa, Maria, González-Gay, M. A., Guillén, A., Herrick, Ariane L., Hesselstrand, R., Hiepe, Falk, Hoffmann-Vold, A., Hunzelmann, Nicolas, Jousse-Joulin, Sandrine, Kádár, Gabriella, Kerick, Martin, Koeleman, B. P. C., Kovács, Laszló, Kreuter, A., Lauwerys, Bernard, Lehner, Michaela, Lester, S., Lories, Rik, López-Berrio, Antonio, López-Longo, F. J., Lunardi, C., Madroñero, A. B., Magro, C., Mantecón, Miguel Angel Gonzalez-Gay, Maresca, Manuel Rodriguez, Marinho, António, Martin, Javier, Martínez, Alfonso Corrales, Maudoux, Anne-Lise, Mayes, Maureen D., Meroni, Pier Luigi, Moleón, Inmaculada Jiménez, Moroncini, Gianluca, Narváez, F. J., Nash, P., Navarro-Linares, Héctor, Neves, Esmeralda, Nikpour, Mandana, Nordin, A., Oreiro, N., Orozco, Gisela, Ortega-Castro, Rafaela, Ortego, Norberto, Ortiz-Santamaría, V., Padyukov, L., Pers, Jacques-Olivier, Portales, R. García, Pros, A., Proudman, Susanna M., Quintero, Isabel Díaz, Radstake, Timothy R. D. J., Raya, Enrique, Riemekasten, G., Rischmueller, M., Rivas, M. Rubio, Ríos, R., Roddy, J., Rodríguez-Pintó, Ignasi, Rodríguez-Rodríguez, L., Roldán, María Concepción Fernández, Roman-Ivorra, J. A., Saez-Comet, L., Sahhar, J., Sancho, J. J. Alegre, Saraux, Alain, Schioppo, Tommaso, Simeón-Aznar, Carmen Pilar, Stevens, W., Stummvoll, Georg, Tavares, Ana, Terao, Chikashi, Thiel, Silvia, Tolosa, C., Trapiella, L., Tymms, K., Vasconcelos, Carlos, Vicente, E., Vigone, Barbara, Vonk, M. C., Voskuyl, A. E., Witte, T., Witte, Torsten, Wynar, Donatienne, Zauner, Michael, Zochling, J., Zuber, Aleksandra   +144 more
core   +8 more sources

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. [PDF]

Nat Commun
Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associated protein tau ...
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH, PSP Genetics Study Group, Crary JF, Naj A.   +49 more
europepmc   +5 more sources

Aberrant Complement Activation Is Associated With Structural Brain Damage in Multiple Sclerosis. [PDF]

Neurol Neuroimmunol Neuroinflamm
Levels of activated complement proteins in the CSF are increased in people with multiple sclerosis (MS) and are associated with clinical disease severity.
Oechtering J, Schaedelin SA, Stein K, Maleska Maceski A, Melie-Garcia L, Benkert P, Cagol A, Leber S, Galbusera R, Ruberte E, Hu W, Qureshi F, Orleth A, Demuth L, Willemse E, Heijnen I, Regeniter A, Derfuss TJ, Fischer-Barnicol B, Achtnichts L, Mueller S, Hoepner R, Lalive PH, Bridel C, D'Souza M, Pot C, Du Pasquier RA, Gobbi C, Zecca C, Wiendl H, Lieb JM, Lamers C, Kappos L, Trendelenburg M, Leppert D, Granziera C, Kuhle J, Lünemann JD, and the Swiss MS Cohort Study.   +38 more
europepmc   +3 more sources

Complement mediated synapse elimination in schizophrenia [PDF]

, 2023
Schizophrenia (SCZ) is a devastating psychiatric disorder with a typically age of onset in late adolescence. The heritability is estimated to be in between 60-80% and large-scale genome-wide studies have revealed a prominent polygenic component to SCZ ...
Gracias Lekander, Jessica Florentina
core   +1 more source