Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L1007fs
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NOD2

NM_022162.3:p.L1007fs

Associated Papers

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

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.

Bar O et al.

International Journal of Molecular Sciences, 2024

38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S2

Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.

Ghalandary M et al.

Scientific Reports, 2022

Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.

Chen JS et al.

G3 (bethesda, Md.), 2018

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

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

The nucleotide synthesis enzyme CAD inhibits NOD2 antibacterial function in human intestinal epithelial cells.

Richmond AL et al.

Gastroenterology, 2012

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

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

Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry.

Travassos LH et al.

Nature Immunology, 2010

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

Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

King K et al.

Genomics, 2007

A new CARD15 mutation in Blau syndrome.

van Duist MM et al.

European Journal of Human Genetics : Ejhg, 2005

NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses.

Watanabe T et al.

Nature Immunology, 2004

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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."