Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L980insFs
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NOD2

NM_001370466.1:p.L980insFs

Associated Papers

Case Report: Blau Syndrome With Thrombocytopenia.

Pan D et al.

International Journal of Rheumatic Diseases, 2025

NOD2 deficiency confers a pro-tumorigenic macrophage phenotype to promote lung adenocarcinoma progression.

Wang Y et al.

Journal of Cellular and Molecular Medicine, 2021

Nod2 Protects the Gut From Experimental Colitis Spreading to Small Intestine.

Al Nabhani Z et al.

Journal of Crohn's & Colitis, 2020

Molecular characteristics of breast cancer according to clinicopathological factors.

Huszno J et al.

Molecular and Clinical Oncology, 2019

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

Respiratory syncytial virus infection augments NOD2 signaling in an IFN-β-dependent manner in human primary cells.

Vissers M et al.

European Journal of Immunology, 2012

Crohn's disease: NOD2, autophagy and ER stress converge.

Fritz T et al.

Gut, 2011

Cutting edge: Crohn's disease-associated Nod2 mutation limits production of proinflammatory cytokines to protect the host from Enterococcus faecalis-induced lethality.

Kim YG et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

Direct bacterial killing in vitro by recombinant Nod2 is compromised by Crohn's disease-associated mutations.

Perez LH et al.

Plos One, 2010

Genetics of inflammatory bowel disease: implications for disease pathogenesis and natural history.

Lees CW et al.

Expert Review of Gastroenterology & Hepatology, 2009

A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1.

Noguchi E et al.

Nature Immunology, 2009

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

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

How NOD2 mutations predispose to Crohn's disease?

Vignal C et al.

Microbes and Infection, 2007

[The molecular mechanism of autoinflammatory disease--lessons from the function of NOD protein families].

Masumoto J et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2007

Polymorphisms of CARD15/NOD2 and CD14 genes in New Zealand Crohn's disease patients.

Leung E et al.

Immunology and Cell Biology, 2005

CARD15/NOD2 analysis in rheumatoid arthritis susceptibility.

Ferreirós-Vidal I et al.

Rheumatology (oxford, England), 2003

Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease.

Siddique I et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."