Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Scientific reports - 19 Apr 2017

Andreoletti Gaia, Shakhnovich Valentina, Christenson Kathy, Coelho Tracy, Haggarty Rachel, Afzal Nadeem A, Batra Akshay, Petersen Britt-Sabina, Mort Matthew, Beattie R Mark, Ennis Sarah

Abstract excerpt

Pediatric inflammatory bowel disease (pIBD) is a chronic heterogeneous disorder. This study looks at the burden of common and rare coding mutations within 41 genes comprising the NOD signaling pathway in pIBD patients. 136 pIBD and 106 control samples underwent whole-exome sequencing. We compared the burden of common, rare and private mutation between these two groups using the SKAT-O test. An independent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Inflammatory Bowel Diseases

Share to Inhibitor of Apoptosis Proteins

Share to Models, Biological

Share to Nod2 Signaling Adaptor Protein

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 28422189
DOI: 10.1038/srep46454
PMCID: PMC5396125

Genes

NOD2
NFKB1
SUGT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.PMID 28422189Read ↗

Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease.Semantic proximity Read ↗

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohortSemantic proximity Read ↗

Mutation spectrum of <i>NOD2</i> reveals recessive inheritance as a main driver of Early Onset Crohn’s DiseaseSemantic proximity Read ↗

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.Semantic proximity Read ↗

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.Semantic proximity Read ↗

Rare and common variant discovery in complex disease: the IBD case studySemantic proximity Read ↗

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.Semantic proximity Read ↗

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

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.Semantic proximity Read ↗

Exome sequencing directly implicates 68 genes in inflammatory bowel diseaseSemantic proximity Read ↗

Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease.Semantic proximity Read ↗

Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at <i>ADCY7</i>Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.