1 to 10 of 27 literature results

• A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.

  Antigen stimulation of immune cells triggers Ca2+ entry through Ca2+ release-activated Ca2+ (CRAC) channels, promoting the immune response to pathogen…

  Authors: Stefan Feske, Yousang Gwack, Murali Prakriya, Sonal Srikanth, Sven-Holger Puppel, Bogdan Tanasa, Patrick G Hogan, Richard S Lewis, Mark Daly, Anjana Rao

  Source: Nature. 2006 May 11

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• Stochastic yet biased expression of multiple Dscam splice variants by individual cells.

  The Drosophila melanogaster gene Dscam is essential for axon guidance and has 38,016 possible alternative splice forms. This diversity can potentially…

  Authors: Guilherme Neves, Jacob Zucker, Mark Daly, Andrew Chess

  Source: Nature genetics. 2004 Mar

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• Guilt beyond a reasonable doubt.

  Authors: David Altshuler, Mark Daly

  Source: Nature genetics. 2007 Jul

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• Common variants at five new loci associated with early-onset inflammatory bowel disease.

  The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the wester…

  Authors: Marcin Imielinski, Robert N Baldassano, Anne Griffiths, Richard K Russell, Vito Annese, Marla Dubinsky, Subra Kugathasan, Jonathan P Bradfield, Thomas D Walters, Patrick Sleiman,…

  Source: Nature genetics. 2009 Dec

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• A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

  Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by activation of the type I interferon (IFN) pathway. Here we convinc…

  Authors: Robert R Graham, Sergey V Kozyrev, Emily C Baechler, M V Prasad Linga Reddy, Robert M Plenge, Jason W Bauer, Ward A Ortmann, Thearith Koeuth, Ma Francisca González Escribano, Argentine and Spanish Collaborative Groups,…

  Source: Nature genetics. 2006 May

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• New models of collaboration in genome-wide association studies: the Genetic Association Information Network.

  The Genetic Association Information Network (GAIN) is a public-private partnership established to investigate the genetic basis of common diseases thr…

  Authors: GAIN Collaborative Research Group, Teri A Manolio, Laura Lyman Rodriguez, Lisa Brooks, Gonçalo Abecasis, Collaborative Association Study of Psoriasis, Dennis Ballinger, Mark Daly, Peter Donnelly, Stephen V Faraone,…

  Source: Nature genetics. 2007 Sep

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• Consistently replicating locus linked to migraine on 10q22-q23.

  Here, we present the results of two genome-wide scans in two diverse populations in which a consistent use of recently introduced migraine-phenotyping…

  Authors: Verneri Anttila, Dale R Nyholt, Mikko Kallela, Ville Artto, Salli Vepsäläinen, Eveliina Jakkula, Annika Wennerström, Päivi Tikka-Kleemola, Mari A Kaunisto, Eija Hämäläinen,…

  Source: American journal of human genetics. 2008 May

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• A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands.

  PDZ domain-containing proteins and their interaction partners are mutated in numerous human diseases and function in complexes regulating epithelial p…

  Authors: Cosmas Giallourakis, Zhifang Cao, Todd Green, Heather Wachtel, Xiaohui Xie, Marco Lopez-Illasaca, Mark Daly, John Rioux, Ramnik Xavier

  Source: Genome research. 2006 Aug

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• Patterns of genetic variation in humans and mice.

  Positional cloning of genes underlying the heritability of autoimmune disease, as in many complex diseases, has largely been a frustrating exercise wi…

  Authors: Mark Daly

  Source: Novartis Foundation symposium. 2005

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• Replicating genotype-phenotype associations.

  Authors: NCI-NHGRI Working Group on Replication in Association Studies, Stephen J Chanock, Teri Manolio, Michael Boehnke, Eric Boerwinkle, David J Hunter, Gilles Thomas, Joel N Hirschhorn, Goncalo Abecasis, David Altshuler,…

  Source: Nature. 2007 Jun 7

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