Search Results - "Sawcer, S"

Overexpression of the Cytokine BAFF and Autoimmunity Risk by Steri, Maristella, Orrù, Valeria, Idda, M. Laura, Pitzalis, Maristella, Pala, Mauro, Zara, Ilenia, Sidore, Carlo, Faà, Valeria, Floris, Matteo, Deiana, Manila, Asunis, Isadora, Porcu, Eleonora, Mulas, Antonella, Piras, Maria G, Lobina, Monia, Lai, Sandra, Marongiu, Mara, Serra, Valentina, Marongiu, Michele, Sole, Gabriella, Busonero, Fabio, Maschio, Andrea, Cusano, Roberto, Cuccuru, Gianmauro, Deidda, Francesca, Poddie, Fausto, Farina, Gabriele, Dei, Mariano, Virdis, Francesca, Olla, Stefania, Satta, Maria A, Pani, Mario, Delitala, Alessandro, Cocco, Eleonora, Frau, Jessica, Coghe, Giancarlo, Lorefice, Lorena, Fenu, Giuseppe, Ferrigno, Paola, Ban, Maria, Barizzone, Nadia, Leone, Maurizio, Guerini, Franca R, Piga, Matteo, Firinu, Davide, Kockum, Ingrid, Lima Bomfim, Izaura, Olsson, Tomas, Alfredsson, Lars, Suarez, Ana, Carreira, Patricia E, Castillo-Palma, Maria J, Marcus, Joseph H, Congia, Mauro, Angius, Andrea, Melis, Maurizio, Gonzalez, Antonio, Alarcón Riquelme, Marta E, da Silva, Berta M, Marchini, Maurizio, Danieli, Maria G, Del Giacco, Stefano, Mathieu, Alessandro, Pani, Antonello, Montgomery, Stephen B, Rosati, Giulio, Hillert, Jan, Sawcer, Stephen, D’Alfonso, Sandra, Todd, John A, Novembre, John, Abecasis, Gonçalo R, Whalen, Michael B, Marrosu, Maria G, Meloni, Alessandra, Sanna, Serena, Gorospe, Myriam, Schlessinger, David, Fiorillo, Edoardo, Zoledziewska, Magdalena, Cucca, Francesco

“…Genetic analysis revealed a gene variant in the Sardinian population that was associated with autoimmune disease. In the variant gene, a deletion yielded a…”
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PAW30 Impact of genome-wide association screening on the genetics of multiple sclerosis by Sawcer, S

“…In 2007 the IMSGC completed a GWAS based on 931 trio families. This study identified two new multiple sclerosis susceptibility genes—IL7R and IL2R. As part of…”
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Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility by Patsopoulos, Nikolaos A., Baranzini, Sergio E., Santaniello, Adam, Shoostari, Parisa, Cotsapas, Chris, Wong, Garrett, Beecham, Ashley H., James, Tojo, Replogle, Joseph, Vlachos, Ioannis S., McCabe, Cristin, Pers, Tune H., Brandes, Aaron, White, Charles, Keenan, Brendan, Cimpean, Maria, Winn, Phoebe, Panteliadis, Ioannis-Pavlos, Robbins, Allison, Andlauer, Till F. M., Zarzycki, Onigiusz, Dubois, Bénédicte, Goris, An, Søndergaard, Helle Bach, Sellebjerg, Finn, Sorensen, Per Soelberg, Ullum, Henrik, Thørner, Lise Wegner, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusic, Sandra, Berthele, Achim, Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Graetz, Christiane, Grummel, Verena, Hemmer, Bernhard, Hoshi, Muni, Knier, Benjamin, Korn, Thomas, Lill, Christina M., Luessi, Felix, Mühlau, Mark, Zipp, Frauke, Dardiotis, Efthimios, Agliardi, Cristina, Amoroso, Antonio, Barizzone, Nadia, Benedetti, Maria D., Bernardinelli, Luisa, Cavalla, Paola, Clarelli, Ferdinando, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Galimberti, Daniela, Guaschino, Clara, Leone, Maurizio A., Martinelli, Vittorio, Moiola, Lucia, Salvetti, Marco, Sorosina, Melissa, Vecchio, Domizia, Zauli, Andrea, Santoro, Silvia, Mancini, Nicasio, Zuccalà, Miriam, Mescheriakova, Julia, van Duijn, Cornelia, Bos, Steffan D., Celius, Elisabeth G., Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Bomfim, Izaura L., Gomez-Cabrero, David, Hillert, Jan, Jagodic, Maja, Lindén, Magdalena, Piehl, Fredrik, Jelčić, Ilijas, Martin, Roland, Sospedra, Mirela, Baker, Amie, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Molyneux, Paul, Neville, Matthew

“…We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects and established a reference map of the genetic architecture of MS that…”
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Apolipoprotein E genotype as a risk factor for susceptibility to and dementia in Parkinson’s Disease by Williams-Gray, C. H., Goris, A., Saiki, M., Foltynie, T., Compston, D. A. S., Sawcer, S. J., Barker, R. A.

“…Further to the wellestablished association between apolipoprotein E (APOE) and Alzheimer’s disease, this gene has also been implicated in both susceptibility…”
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HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis by Hensiek, A E, Sawcer, S J, Feakes, R, Deans, J, Mander, A, Akesson, E, Roxburgh, R, Coraddu, F, Smith, S, Compston, D A S

“…Background: The association between multiple sclerosis and class II alleles of the major histocompatibiliy complex, in particular the DRB1*1501-DQB1*0602…”
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Familial effects on the clinical course of multiple sclerosis by HENSIEK, A. E, SEAMAN, S. R, LEONE, M, ANDERSEN, O, BENCSIK, K, BOOTH, D, CELIUS, E. G, HARBO, H. F, HAUSER, S. L, HEARD, R, HILLERT, J, MYHR, K.-M, BARCELLOS, L. F, MARROSU, M. G, OKSENBERG, J. R, RAJDA, C, SAWCER, S. J, SØRENSEN, P. S, ZIPP, F, COMPSTON, D. A. S, OTURAI, A, ERAKSOI, M, COCCO, E, VECSEI, L, STEWART, G, DUBOIS, B, BELLMAN-STROBL, J

“…Familial factors influence susceptibility to multiple sclerosis (MS) but it is unknown whether there are additional effects on the natural history of the…”
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Autoimmune disease in first-degree relatives of patients with multiple sclerosis. A UK survey by Broadley, S A, Deans, J, Sawcer, S J, Clayton, D, Compston, D A

“…Previous studies examining an association with other autoimmune diseases have suggested the existence of a generalized autoimmune diathesis in patients with…”
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Genetic burden in multiple sclerosis families by Isobe, N, Damotte, V, Lo Re, V, Ban, M, Pappas, D, Guillot-Noel, L, Rebeix, I, Compston, A, Mack, T, Cozen, W, Fontaine, B, Hauser, S L, Oksenberg, J R, Sawcer, S, Gourraud, P-A

“…A previous study using cumulative genetic risk estimations in multiple sclerosis (MS) successfully tracked the aggregation of susceptibility variants in…”
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Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis by Kemppinen, AK, Baker, A, Liao, W, Fiddes, B, Jones, J, Compston, A, Ban, M, Sawcer, S

“…Background: Genome-wide association studies (GWAS) have identified over 100 germline variants that influence susceptibility to multiple sclerosis, most of…”
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Multiple sclerosis severity score : Using disability and disease duration to rate disease severity by ROXBURGH, R. H. S. R, SEAMAN, S. R, EDAN, G, MCDONNELL, G. V, HAWKINS, S, TROJANO, M, LIGUORI, M, COCCO, E, MARROSU, M. G, TESSER, F, LEONE, M. A, WEBER, A, MASTERMAN, T, ZIPP, F, MITERSKI, B, EPPLEN, J. T, OTURAI, A, SOELBERG SØRENSEN, P, CELIUS, E. G, TELLEZ LARA, N, MONTALBAN, X, VILLOSLADA, P, SILVA, A. M, HENSIEK, A. E, MARTA, M, LEITE, I, DUBOIS, B, RUBIO, J, BUTZKUEVEN, H, KILPATRICK, T, MYCKO, M. P, SELMAJ, K. W, RIO, M. E, SA, M, SAWCER, S. J, SALEMI, G, SAVETTIERI, G, HILLERT, J, COMPSTON, D. A. S, VUKUSIC, S, ACHITI, I, CONFAVREUX, C, COUSTANS, M, LE PAGE, E

“…There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single…”
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Primary spinal cord neurodegeneration in leber hereditary optic neuropathy by JAROS, E, MAHAD, D. J, HUDSON, G, BIRCHALL, D, SAWCER, S. J, GRIFFITHS, P. G, SUTER, J, COMPSTON, D. A. S, PERRY, R. H, CHINNERY, P. F

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Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson’s disease cohort by Williams-Gray, C H, Goris, A, Foltynie, T, Brown, J, Maranian, M, Walton, A, Compston, D A S, Sawcer, S J, Barker, R A

“…The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson’s disease (PD) identified to date, although estimates of its prevalence in idiopathic…”
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The distribution of the endogenous retroviruses HERV-K113 and HERV-K115 in health and disease by Moyes, David L., Martin, Alex, Sawcer, Stephen, Temperton, Nigel, Worthington, Jane, Griffiths, David J., Venables, Patrick J.

“…The human endogenous retroviruses HERV-K113 and HERV-K115 are full-length proviruses but unusual in being found in only a proportion of the population. Here,…”
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Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus by Mero, I-L, Ban, M, Lorentzen, Å R, Smestad, C, Celius, E G, Sæther, H, Saeedi, H, Viken, M K, Skinningsrud, B, Undlien, D E, Aarseth, J, Myhr, K-M, Granum, S, Spurkland, A, Sawcer, S, Compston, A, Lie, B A, Harbo, H F

“…Genomewide association studies have implicated the CLEC16A gene in several autoimmune diseases, including multiple sclerosis (MS) and type 1 diabetes. However,…”
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A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22 by Robertson, Neil, Gray, Julia, Goodfellow, Peter N, Sawcer, Stephen, Smaldon, Niki, Feakes, Robert, Compston, Alastair, Clayton, David, Jones, Hywel B, Chataway, Jeremy

“…The population prevalence of multiple sclerosis is 0.1%; however, the risk of the disease in the siblings of affected individuals is very much higher at 3-5%…”
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APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers by Burwick, R. M., Ramsay, P. P., Haines, J. L., Hauser, S. L., Oksenberg, J. R., Pericak-Vance, M. A., Schmidt, S., Compston, A., Maciel, P., Santos, Monica

“…Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest…”
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HLA-DRB1 and multiple sclerosis in Malta by DEAN, G, YEO, T. W, SAWCER, S, COMPSTON, D. A. S, GORIS, A, TAYLOR, C. J, GOODMAN, R. S, ELIAN, M, GALEA-DEBONO, A, AQUILINA, A, FELICE, A, VELLA, M

“…By comparison with the neighboring island of Sicily, the frequency of multiple sclerosis (MS) in Malta is remarkably low. To explore whether the relative…”
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No Evidence for Association with Parkinson Disease for 13 Single-Nucleotide Polymorphisms Identified by Whole-Genome Association Screening by Goris, A., Williams-Gray, C.H., Foltynie, T., Compston, D.A.S., Barker, R.A., Sawcer, S.J.

“…Fewer than half of the SNPs (46%) showed allele frequency differences between cases and controls in the same direction as that reported by Maraganore et al.1…”
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Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson's disease by GORIS, A, WILLIAMS-GRAY, C. H, FOLTYNIE, T, BROWN, J, MARANIAN, M, WALTON, A, COMPSTON, D. A. S, BARKER, R. A, SAWCER, S. J

“…Given the known roles of TGFbeta2 in both regulating the immune system and promoting the survival of dopaminergic neurons, it is feasible that genetic…”
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A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis by Ban, M, McCauley, J L, Zuvich, R, Baker, A, Bergamaschi, L, Cox, M, Kemppinen, A, D'Alfonso, S, Guerini, F R, Lechner-Scott, J, Dudbridge, F, Wason, J, Robertson, N P, De Jager, P L, Hafler, D A, Barcellos, L F, Ivinson, A J, Sexton, D, Oksenberg, J R, Hauser, S L, Pericak-Vance, M A, Haines, J, Compston, A, Sawcer, S

“…Several single-nucleotide polymorphism (SNP) genome-wide association studies (GWASs) have been completed in multiple sclerosis (MS). Follow-up studies of the…”
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