Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.R1007insFs
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NOD2

NM_001370466.1:p.R1007insFs

Associated Papers

Germline polymorphisms of the NOD2 pathway may predict the effectiveness of radioiodine in differentiated thyroid cancer treatment.

Borowczyk M et al.

Journal of Endocrinological Investigation, 2024

Spectrum of inflammatory manifestations in patients with nucleotide-binding oligomerization domain containing 2 high-risk alleles.

Lozano-Chinga MM et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024

The role of NOD2 in intestinal immune response and microbiota modulation: A therapeutic target in inflammatory bowel disease.

Liu Z et al.

International Immunopharmacology, 2022

Crohn's Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes.

Kaczmarek-Ryś M et al.

Journal of Clinical Medicine, 2021

Crohn's disease - genetic factors and progress of the disease.

Kupka T et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2018

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › indels

Dominant disease-causing effect of NOD2 mutations in a family with all family members affected by Crohn's disease.

Schnitzler F et al.

Inflammatory Bowel Diseases, 2012

Genetic association analysis of the functional c.714T>G polymorphism and mucosal expression of dectin-1 in inflammatory bowel disease.

de Vries HS et al.

Plos One, 2009

Toll-like receptor-induced granulocyte-macrophage colony-stimulating factor secretion is impaired in Crohn's disease by nucleotide oligomerization domain 2-dependent and -independent pathways.

Brosbøl-Ravnborg A et al.

Clinical and Experimental Immunology, 2009

Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel disease.

André MF et al.

Digestive Diseases and Sciences, 2008

Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice: results of a prospective study.

Seiderer J et al.

Inflammatory Bowel Diseases, 2006

Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease.

Schnitzler F et al.

Immunogenetics, 2006

Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers.

Crawford NP et al.

Human Mutation, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."