Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populations.

Autor: Lora Boteva, IMAGEN, Yee Ling Wu, Josefina Cortes-Hernández, Javier Martin, Timothy J Vyse, Michelle M A Fernando

Publikováno v: PLoS ONE, Vol 6, Iss 8, p e22128 (2011)

Genetic variants resulting in non-expression of complement C4A and C4B genes are common in healthy European populations and have shown association with a number of diseases, most notably the autoimmune disease, systemic lupus erythematosus. The most

Externí odkaz: https://doaj.org/article/b0cf4e5d017a4d9eb2c63322b9079095

Identification of two independent risk factors for lupus within the MHC in United Kingdom families.

Autor: Michelle M A Fernando, Christine R Stevens, Pardis C Sabeti, Emily C Walsh, Alasdair J M McWhinnie, Anila Shah, Todd Green, John D Rioux, Timothy J Vyse

Publikováno v: PLoS Genetics, Vol 3, Iss 11, p e192 (2007)

The association of the major histocompatibility complex (MHC) with SLE is well established yet the causal variants arising from this region remain to be identified, largely due to inadequate study design and the strong linkage disequilibrium demonstr

Externí odkaz: https://doaj.org/article/98c20d9e955c42f5bf99abdf3fe5329b

The role of cardiovascular magnetic resonance in the evaluation of acute myocarditis and inflammatory cardiomyopathies in clinical practice - a comprehensive review

Autor: Tevfik F Ismail, Alina Hua, Sven Plein, David P D’Cruz, Michelle M A Fernando, Matthias G Friedrich, Michael J Zellweger, Assuero Giorgetti, Federico Caobelli, Philip Haaf

Inflammatory cardiomyopathy (I-CMP) is defined as myocarditis in association with cardiac dysfunction and/or ventricular remodelling. It is characterized by inflammatory cell infiltration into the myocardium and has heterogeneous infectious and non-i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae350c1f0448e96ef3662220ab2a6ff

Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus

Autor: Christopher A, Odhams, Amy L, Roberts, Susan K, Vester, Carolina S T, Duarte, Charlie T, Beales, Alexander J, Clarke, Sonja, Lindinger, Samuel J, Daffern, Antonino, Zito, Lingyan, Chen, Leonardo L, Jones, Lora, Boteva, David L, Morris, Kerrin S, Small, Michelle M A, Fernando, Deborah S, Cunninghame Graham, Timothy J, Vyse

Publikováno v: Nature Communications

Systemic lupus erythematosus (SLE) is an autoimmune disease, characterised by increased expression of type I interferon (IFN)-regulated genes and a striking sex imbalance towards females. Through combined genetic, in silico, in vitro, and ex vivo app

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b48291f06a2f99c7938a2b63e9c6bb01
https://pubmed.ncbi.nlm.nih.gov/31092820

MHC associations with clinical and autoantibody manifestations in European SLE

Autor: Carl D. Langefeld, David L. Morris, Timothy W. Behrens, Joanne Nititham, Lindsey A. Criswell, K. E. Taylor, Patrick M. Gaffney, Chris Cotsapas, Michael F. Seldin, Bernardo A. Pons-Estel, John B. Harley, R. R. Graham, Michelle M. A. Fernando, Janelle A. Noble, Timothy J. Vyse, John D. Rioux, Peter K. Gregersen, Lisa F. Barcellos, Geoffrey Hom, Sharon A. Chung, Stephen L. Hauser, Marta E. Alarcón-Riquelme

Publikováno v: Genes and immunity, vol 15, iss 4
Morris, DL; Fernando, MMA; Taylor, KE; Chung, SA; Nititham, J; Alarcón-Riquelme, ME; et al.(2014). MHC associations with clinical and autoantibody manifestations in European SLE. Genes and Immunity, 15(4), 210-217. doi: 10.1038/gene.2014.6. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0q93f98p
Genes and immunity
Morris, D L, Fernando, M M A, Taylor, K E, Chung, S A, Nititham, J, Alarcon-Riquelme, M E, Barcellos, L F, Behrens, T W, Cotsapas, C, Gaffney, P M, Graham, R R, Pons-Estel, B A, Gregersen, P K, Harley, J B, Hauser, S L, Hom, G, Langefeld, C D, Noble, J A, Rioux, J D, Seldin, M F & Vyse, T J & Criswell, L A 2014, ' MHC associations with clinical and autoantibody manifestations in European SLE ', GENES AND IMMUNITY, vol. 15, no. 4, pp. 210-217 . https://doi.org/10.1038/gene.2014.6

Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease affecting multiple organ systems and characterized by autoantibody formation to nuclear components. Although genetic variation within the major histocompatibility complex (MHC)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507a0bd35ef0970356f92e44a14d7dd0
https://escholarship.org/uc/item/0q93f98p