Associated Papers
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.
Wu S et al.
The Journal of Allergy and Clinical Immunology, 2025
The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Matykiewicz J et al.
Scientific Reports, 2025
Clinical characterization of NOD2 variants in patients with common variable immunodeficiency.
Lee ASE et al.
Clinical Immunology (orlando, Fla.), 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.
Szuman M et al.
International Journal of Molecular Sciences, 2024
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
Zhang J et al.
Arthritis Research & Therapy, 2024
Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.
Williamson KA et al.
Frontiers in Immunology, 2024
Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.
Prieto-Peña D et al.
Frontiers in Immunology, 2024
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.
Berry V et al.
Bmj Open Ophthalmology, 2023
Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.
Ashton JJ et al.
Inflammatory Bowel Diseases, 2023
Palmitoylation restricts SQSTM1/p62-mediated autophagic degradation of NOD2 to modulate inflammation.
Zhou L et al.
Cell Death and Differentiation, 2022
Genotype-protein phenotype characterization of NOD2 and IL23R missense variants associated with inflammatory bowel disease: A paradigm from molecular modelling, dynamics, and docking simulations.
Nasser KK et al.
Frontiers in Medicine, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira MAR et al.
Plos Genetics, 2020
NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses.
Corridoni D et al.
Frontiers in Immunology, 2019
Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.
Chen JS et al.
G3 (bethesda, Md.), 2018
Functional polymorphisms of innate immunity receptors are not risk factors for the non-SBP type bacterial infections in cirrhosis.
Dinya T et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype.
Girardelli M et al.
Inflammatory Bowel Diseases, 2018
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease.
Loganes C et al.
World Journal of Gastroenterology, 2016
NOD2 genetic variants and sarcoidosis-associated uveitis.
Davoudi S et al.
American Journal of Ophthalmology Case Reports, 2016
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.
Parkhouse R et al.
Frontiers in Immunology, 2015
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
Caso F et al.
Rmd Open, 2015
Hidradenitis suppurativa not associated with CARD15/NOD2 mutation: a case series.
van Rappard DC et al.
International Journal of Dermatology, 2014
Innate immune gene polymorphisms in tuberculosis.
Azad AK et al.
Infection and Immunity, 2012
Co-inheritance of variants/mutations in Malaysian patients with Crohn's disease.
Chua KH et al.
Genetics and Molecular Research : Gmr, 2012
The nucleotide synthesis enzyme CAD inhibits NOD2 antibacterial function in human intestinal epithelial cells.
Richmond AL et al.
Gastroenterology, 2012
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011
ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis.
Homer CR et al.
Gastroenterology, 2010
Synthetic associations in the context of genome-wide association scan signals.
Orozco G et al.
Human Molecular Genetics, 2010
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Wang K et al.
Nucleic Acids Research, 2010
Direct bacterial killing in vitro by recombinant Nod2 is compromised by Crohn's disease-associated mutations.
Perez LH et al.
Plos One, 2010
Association of chronic non-bacterial osteomyelitis with Crohn's disease but not with CARD15 gene variants.
Morbach H et al.
Rheumatology International, 2010
An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders.
Oudot T et al.
The Journal of Investigative Dermatology, 2009
Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository.
Bhat M et al.
The American Journal of Gastroenterology, 2009
Muramyldipeptide modulates CXCL-8 release of BEAS-2B cells via NOD2.
Farkas L et al.
Scandinavian Journal of Immunology, 2008
Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.
van Rijn BB et al.
Plos One, 2008
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Lappalainen M et al.
Inflammatory Bowel Diseases, 2008
Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression.
Rosenstiel P et al.
Bmc Genomics, 2007
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.
Milman N et al.
The Clinical Respiratory Journal, 2007
CARD15 genotype-phenotype relationships in a small inflammatory bowel disease population with severe disease affection status.
Crawford NP et al.
Digestive Diseases and Sciences, 2007
Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients.
Hong J et al.
Journal of Gastroenterology and Hepatology, 2007