Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
暂无分享,去创建一个
A. Griffiths | N. Warner | O. Gottesman | A. Shuldiner | J. Overton | A. Baras | C. Hout | J. Staples | Nehal Gosalia | A. Muise | R. Murchie | J. Horowitz | E. Crowley | K. Fiedler | C. Gonzaga‐Jauregui | J. Reid | A. King | Gabriel Welch
[1] C. Gasche,et al. Management of Iron Deficiency Anaemia in Inflammatory Bowel Disease , 2019, Acta Haematologica.
[2] A. Muise,et al. Inflammatory Bowel Disease: What Very Early Onset Disease Teaches Us. , 2018, Gastroenterology clinics of North America.
[3] J. Flowers,et al. Origins and geographic diversification of African rice (Oryza glaberrima) , 2018, bioRxiv.
[4] Alexander E. Lopez,et al. Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes , 2017, bioRxiv.
[5] Marylyn D. Ritchie,et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study , 2016, Science.
[6] Shane A. McCarthy,et al. Reference-based phasing using the Haplotype Reference Consortium panel , 2016, Nature Genetics.
[7] R. Xavier,et al. Gene-microbiota interactions contribute to the pathogenesis of inflammatory bowel disease , 2016, Science.
[8] Eric E Schadt,et al. Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease. , 2016, Gastroenterology.
[9] Martin J. Blaser,et al. Helminth infection promotes colonization resistance via type 2 immunity , 2016, Science.
[10] Tariq Ahmad,et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study , 2016, The Lancet.
[11] Avijit Ray,et al. Interrelatedness between dysbiosis in the gut microbiota due to immunodeficiency and disease penetrance of colitis , 2015, Immunology.
[12] S. Saeed,et al. Inflammatory Bowel Disease in Children and Adolescents. , 2021, Advances in pediatrics.
[13] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[14] Judy H Cho,et al. Genetics of Inflammatory Bowel Diseases. , 2015, Gastroenterology.
[15] Judy H. Cho,et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations , 2015, Nature Genetics.
[16] David T. Okou,et al. Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping , 2015, PloS one.
[17] C. Klein,et al. Very Early-onset Inflammatory Bowel Disease: Gaining Insight Through Focused Discovery , 2015, Gastroenterology & hepatology.
[18] Jeffrey Staples,et al. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. , 2014, American journal of human genetics.
[19] C. Klein,et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. , 2014, Gastroenterology.
[20] Johan Van Limbergen,et al. Advances in IBD genetics , 2014, Nature Reviews Gastroenterology &Hepatology.
[21] A. Kostic,et al. The microbiome in inflammatory bowel disease: current status and the future ahead. , 2014, Gastroenterology.
[22] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[23] Eric S. Lander,et al. A polygenic burden of rare disruptive mutations in schizophrenia , 2014, Nature.
[24] A. Gruber,et al. Intestinal Microbiota Composition of Interleukin-10 Deficient C57BL/6J Mice and Susceptibility to Helicobacter hepaticus-Induced Colitis , 2013, PloS one.
[25] C. Tyler-Smith,et al. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease , 2013, Human Genetics.
[26] N. Mailand,et al. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling , 2013, EMBO molecular medicine.
[27] P. Cotter,et al. Role of the gut microbiota in health and chronic gastrointestinal disease: understanding a hidden metabolic organ , 2013, Therapeutic advances in gastroenterology.
[28] H. Flint,et al. Role of the gut microbiota in nutrition and health , 2018, British Medical Journal.
[29] S. Snapper,et al. The age of gene discovery in very early onset inflammatory bowel disease. , 2012, Gastroenterology.
[30] J. Puchalka,et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. , 2012, Gastroenterology.
[31] Joshua M. Korn,et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease , 2011, Nature Genetics.
[32] R. Xavier,et al. Genetics and pathogenesis of inflammatory bowel disease , 2011, Nature.
[33] Philippe Seksik,et al. Epidemiology and natural history of inflammatory bowel diseases. , 2011, Gastroenterology.
[34] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[35] Johan Van Limbergen,et al. Common variants at five new loci associated with early-onset inflammatory bowel disease , 2009, Nature Genetics.
[36] G. Rogler,et al. Protection of epithelial barrier function by the Crohn's disease associated gene protein tyrosine phosphatase n2. , 2009, Gastroenterology.
[37] A. Schäffer,et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. , 2009, The New England journal of medicine.
[38] A. Houllier,et al. Hepatocyte Nuclear Factor 4α, a Key Factor for Homeostasis, Cell Architecture, and Barrier Function of the Adult Intestinal Epithelium , 2009, Molecular and Cellular Biology.
[39] J. Satsangi,et al. The genetics of Crohn's disease. , 2009, Annual review of genomics and human genetics.
[40] J. B. Garrison,et al. XIAP mediates NOD signaling via interaction with RIP2 , 2009, Proceedings of the National Academy of Sciences.
[41] M. Silverberg,et al. Polymorphisms in E-cadherin (CDH1) result in a mis-localised cytoplasmic protein that is associated with Crohn’s disease , 2009, Gut.
[42] Judy H. Cho,et al. IL-23 and autoimmunity: new insights into the pathogenesis of inflammatory bowel disease. , 2009, Annual review of medicine.
[43] Joseph T. Glessner,et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease , 2008, Nature Genetics.
[44] H. Tilg,et al. XBP1 Links ER Stress to Intestinal Inflammation and Confers Genetic Risk for Human Inflammatory Bowel Disease , 2008, Cell.
[45] Judy H. Cho,et al. The genetics and immunopathogenesis of inflammatory bowel disease , 2008, Nature Reviews Immunology.
[46] J. Schulzke,et al. Altered permeability in inflammatory bowel disease: pathophysiology and clinical implications , 2007, Current opinion in gastroenterology.
[47] Alastair Forbes,et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility , 2007, Nature Genetics.
[48] L. Cantley,et al. Coordinated Regulation of Toll-Like Receptor and NOD2 Signaling by K63-Linked Polyubiquitin Chains , 2007, Molecular and Cellular Biology.
[49] Judy H. Cho,et al. Prevalence of CARD15/NOD2 Mutations in Caucasian Healthy People , 2007, The American Journal of Gastroenterology.
[50] Judy H Cho,et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis , 2007, Nature Genetics.
[51] Thomas Lengauer,et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 , 2007, Nature Genetics.
[52] Judy H. Cho,et al. Inflammatory bowel disease genetics: Nod2. , 2007, Annual review of medicine.
[53] Judy H. Cho,et al. A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene , 2006, Science.
[54] N. LeLeiko,et al. Distinct Phenotype of Early Childhood Inflammatory Bowel Disease , 2006, Journal of clinical gastroenterology.
[55] Judy H. Cho,et al. Functional consequences of NOD2 (CARD15) mutations , 2006, Inflammatory bowel diseases.
[56] Tomohiro Watanabe,et al. Following the TRAIL from hepatitis C virus and alcohol to fatty liver , 2005, Gut.
[57] J. Satsangi,et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. , 2005, Canadian journal of gastroenterology = Journal canadien de gastroenterologie.
[58] M. Chamaillard,et al. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease. , 2005, Annual review of biochemistry.
[59] Clive M. Onnie,et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease , 2005, The Lancet.
[60] J. Ioannidis,et al. Differential Effects of NOD2 Variants on Crohn's Disease Risk and Phenotype in Diverse Populations: A Metaanalysis , 2004, The American Journal of Gastroenterology.
[61] M. Chamaillard,et al. Nod2 Is a General Sensor of Peptidoglycan through Muramyl Dipeptide (MDP) Detection* , 2003, The Journal of Biological Chemistry.
[62] J. Hugot,et al. Gene–environment interaction modulated by allelic heterogeneity in inflammatory diseases , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[63] S. Foster,et al. Host Recognition of Bacterial Muramyl Dipeptide Mediated through NOD2 , 2003, The Journal of Biological Chemistry.
[64] C. O'Morain,et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. , 2002, American journal of human genetics.
[65] Mourad Sahbatou,et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease , 2001, Nature.
[66] Judy H. Cho,et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease , 2001, Nature.
[67] R. Sartor,et al. Resident Enteric Bacteria Are Necessary for Development of Spontaneous Colitis and Immune System Activation in Interleukin-10-Deficient Mice , 1998, Infection and Immunity.
[68] Jean Weissenbach,et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16 , 1996, Nature.
[69] K. Rajewsky,et al. Interleukin-10-deficient mice develop chronic enterocolitis , 1993, Cell.
[70] N. Sebire,et al. Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years , 2017, Journal of Crohn's & colitis.
[71] David C. Wilson,et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease , 2012, Nature.
[72] E. Szigethy,et al. Inflammatory bowel disease. , 2011, Pediatric clinics of North America.
[73] J. Stockman. Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor , 2011 .
[74] A. Kaser,et al. Inflammatory bowel disease. , 2010, Annual review of immunology.
[75] Helen Schuilenburg,et al. Information for : Genome-wide association study and meta-analysis indicates that over 40 loci affect risk of type 1 diabetes , 2009 .
[76] Judy H Cho,et al. Inflammatory bowel disease. , 2009, The New England journal of medicine.
[77] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[78] Justin C. Fay,et al. Identification of deleterious mutations within three human genomes. , 2009, Genome research.
[79] C. Eun. A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene. , 2007 .
[80] Tomohiro Watanabe,et al. Signalling pathways and molecular interactions of NOD1 and NOD2 , 2006, Nature Reviews Immunology.
[81] Judy H. Cho,et al. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. , 2003, Gastroenterology.