1 to 10 of 35 literature results

• De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

  Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in…

  Authors: Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll,…

  Source: Nature genetics. 2009 Aug

  View Free Full Text

• Evidence for a common pathway linking neurodegenerative diseases.

  Authors: Joshua M Shulman, Philip L De Jager

  Source: Nature genetics. 2009 Dec

  View Full Text

• New therapeutic approaches for multiple sclerosis.

  Although several therapies exist for multiple sclerosis (MS), the most common inflammatory demyelinating disease of the central nervous system (CNS), …

  Authors: Philip L De Jager, David A Hafler

  Source: Annual review of medicine. 2007

  View Full Text

• Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

  We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with…

  Authors: Philip L De Jager, Xiaoming Jia, Joanne Wang, Paul I W de Bakker, Linda Ottoboni, Neelum T Aggarwal, Laura Piccio, Soumya Raychaudhuri, Dong Tran, Cristin Aubin,…

  Source: Nature genetics. 2009 Jul

  View Free Full Text

• Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.

  The role of autoantibodies in the pathogenesis of multiple sclerosis (MS) and other demyelinating diseases is controversial, in part because widely us…

  Authors: Kevin C O'Connor, Katherine A McLaughlin, Philip L De Jager, Tanuja Chitnis, Estelle Bettelli, Chenqi Xu, William H Robinson, Sunil V Cherry, Amit Bar-Or, Brenda Banwell,…

  Source: Nature medicine. 2007 Feb

  View Full Text

• Neuropathologic intermediate phenotypes enhance association to Alzheimer susceptibility alleles.

  OBJECTIVE: The identification of susceptibility alleles to risk of Alzheimer disease (AD) is a major public health priority. Using apolipoprotein E ge…

  Authors: David A Bennett, Philip L De Jager, Sue E Leurgans, Julie A Schneider

  Source: Neurology. 2009 Apr 28

  View Full Text

• A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility.

  Multiple sclerosis is a common disease with proven heritability, but, despite large-scale attempts, no underlying risk genes have been identified. Tra…

  Authors: David Reich, Nick Patterson, Philip L De Jager, Gavin J McDonald, Alicja Waliszewska, Arti Tandon, Robin R Lincoln, Cari DeLoa, Scott A Fruhan, Philippe Cabre,…

  Source: Nature genetics. 2005 Oct

  View Full Text

• Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.

  Genetic risk for multiple sclerosis (MS) is thought to involve both common and rare risk alleles. Recent GWAS and subsequent meta-analysis have establ…

  Authors: Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti,…

  Source: American journal of human genetics. 2010 Feb 12

  View Full Text

• Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus.

  OBJECTIVE: Autoantibodies produced by differentiated B cells play an important role in the pathogenesis of systemic lupus erythematosus (SLE). The Tol…

  Authors: Philip L De Jager, Angela Richardson, Tim J Vyse, John D Rioux

  Source: Arthritis and rheumatism. 2006 Apr

  View Full Text

• Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

  Large case-control genome-wide association studies primarily expose common variants contributing to disease pathogenesis with modest effects. Thus, al…

  Authors: Suvi P Kallio, Eveliina Jakkula, Shaun Purcell, Minna Suvela, Keijo Koivisto, Pentti J Tienari, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Denis Bronnikov,…

  Source: Human molecular genetics. 2009 May 1

  View Free Full Text