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Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. (2006)

Momeni, Parastoo; Schymick, Jennifer; Jain, Shushant; Cookson, Mark R; Cairns, Nigel J;...

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. (2006)

Momeni, Parastoo; Schymick, Jennifer; Jain, Shushant; Cookson, Mark R; Cairns, Nigel J; Greggio, Elisa; Greenway, Matthew J; Berger, Stephen; Pickering-Brown, Stuart; Chiò, Adriano; Fung, Hon C; Holtzman, David M; Huey, Edward D; Wassermann, Eric M; Adamson, Jennifer; Hutton, Michael L; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rothstein, Jeffrey D; Hardiman, Orla

Abstract:

This article is also available from <a href="http://www.biomedcentral.com">www.biomedcentral.com</a>
BACKGROUND: A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p. METHODS: We identified chromosome 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) and undertook mutational screening of candidate genes within this locus. RESULTS: Candidate gene sequencing at this locus revealed the presence of a disease segregating stop mutation (Q342X) in the intraflagellar transport 74 (IFT74) gene in family 476 (F476), but no mutation was detected within IFT74 in family 2 (F2). While neither family was sufficiently informative to definitively implicate or exclude IFT74 mutations as a cause of chromosome 9-linked ALS-FTD, the nature of the mutation observed within F476 (predicted to truncate the protein by 258 am...

https://epubs.rcsi.ie/clinneursciart/2

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Expanding the substantial interactome of NEMO using protein microarrays. (2010)

Fenner, Beau J; Scannell, Michael; Prehn, Jochen H M

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Inosine Can Increase DNA′s Susceptibility to Photo‐oxidation by a RuII Complex due to Structural Change in the Minor Groove (2020)

Keane, Páraic M.; Hall, James P.; Poynton, Fergus E.; Quinn, Susan J.; et al.

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Interleukin-8 up-regulation by neutrophil elastase is mediated by MyD88/IRAK/TRAF-6 in human bronchial epithelium. (2001)

Walsh, Deirdre E; Greene, Catherine M; Carroll, Tomás P; Taggart, Clifford C; Gallagher...

Mark

Loss of the lupus autoantigen Ro52/Trim21 induces tissue inflammation and systemic autoimmunity by disregulating the IL-23-Th17 pathway. (2009)

Espinosa, Alexander; Dardalhon, Valerie; Brauner, Susanna; Ambrosi, Aurelie; Higgs, Row...

Loss of the lupus autoantigen Ro52/Trim21 induces tissue inflammation and systemic autoimmunity by disregulating the IL-23-Th17 pathway. (2009)

Espinosa, Alexander; Dardalhon, Valerie; Brauner, Susanna; Ambrosi, Aurelie; Higgs, Rowan; Quintana, Fransisco J; Sjöstrand, Maria; Eloranta, Maija-Leena; Ní Gabhann, Joan; Winqvist, Ola; Sundelin, Birgitta; Jefferies, Caroline A; Rozell, Björn; Kuchroo, Vijay K; Wahren-Herlenius, Marie

Abstract:

This article is also available at http://jem.rupress.org/content/206/8/1661.long
Ro52/Trim21 is targeted as an autoantigen in systemic lupus erythematosus and Sjögren's syndrome. Polymorphisms in the Ro52 gene have been linked to these autoimmune conditions, but the molecular mechanism by which Ro52 may promote development of systemic autoimmune diseases has not been explored. To address this issue, we generated Ro52-null mice (Ro52(-/-)), which appear phenotypically normal if left unmanipulated. However, Ro52(-/-) mice develop severe dermatitis extending from the site of tissue injury induced by ear tags. The affected mice further develop several signs of systemic lupus with hypergammaglobulinemia, autoantibodies to DNA, proteinuria, and kidney pathology. Ro52, which was recently identified as an E3 ligase, mediates ubiquitination of several members of the interferon regulatory factor (IRF) family, and the Ro52-deficient mice have an enhanced production of proinflammatory ...

https://epubs.rcsi.ie/mctart/26