ArticleCellular and molecular gastroenterology and hepatology2015
Defects in NADPH Oxidase Genes
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Article in Cellular and molecular gastroenterology and hepatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 2 of them syntheses that pooled it.
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89citing papers in PubMed, 2 pooled it
6.5field-weighted citation impact, top 3% of its field
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Who cites it
89 citing papers in PubMed, 2 syntheses or guidelines pooled it, 145 citations in OpenAlex.
- Meta-analysis of gene expression disease signatures in colonic biopsy tissue from patients with ulcerative colitis.Scientific reports · 2021Pooled it
- Preventing Colitis-Associated Colon Cancer With Antioxidants: A Systematic Review.Cellular and molecular gastroenterology and hepatology · 2021Pooled it
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Toll-like receptor 2 impacts small intestinal villus capillarization through epithelial dual oxidase 2.Redox biology · 2026Article
- Molecular Views into the Synthesis and Activation of FlavocytochromeAntioxidants (Basel, Switzerland) · 2026Review
- Trans-kingdom coupling of redox signaling to environmental cell stress responses through multiphase partitioning.bioRxiv : the preprint server for biology · 2026Article
- NLRP3 inflammasome blockade treats intestinal inflammation associated with chronic granulomatous disease.Blood · 2026Article
- DUOX2-Driven Oxidative Stress Alters the Gut Redox Niche and Promotes Microbial Dysbiosis in Crohn's Disease.Antioxidants (Basel, Switzerland) · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- From Defense to Disease: NADPH Oxidase in Cellular Function and Dysregulation.Journal of immunology research · 2026Review
- Article
- A niche-dependent redox rheostat regulates epithelial stem cell fate.Nature communications · 2025Article
- STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.American journal of respiratory and critical care medicine · 2025Article
- Article
- Therapeutic mechanisms of exclusive enteral nutrition in Crohn's disease.Seminars in immunopathology · 2025Review
- NADPH oxidases: redox regulation of cell homeostasis and disease.Physiological reviews · 2025Review
- Advances in Understanding Intestinal Homeostasis: Lessons from Inflammatory Bowel Disease and Monogenic Intestinal Disorder Pathogenesis.International journal of molecular sciences · 2025Review
- De novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Pulsatilla Powder Ameliorates Damp-Heat Diarrhea in Piglets Through the Regulation of Intestinal Mucosal Barrier and the Pentose Phosphate Pathway Involving G6PD and NOX.Veterinary sciences · 2025Article
- Identification of Shared Diagnostic Biomarkers LCN2 and DUOX2 for Inflammatory Bowel Disease and Cholangiocarcinoma Through Integrative Bioinformatics and Machine Learning.Journal of inflammation research · 2025Article
29 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 10 institutions in 3 countries.
Patti HayesConway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Sandeep DhillonSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Kim O'NeillConway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Cornelia ThoeniSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Ken Y HuiProgram in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut.
Abdul ElkadriSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Conghui H GuoSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Lidija KovacicConway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Gabriella AvielloConway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Luis A AlvarezNational Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Anne M GriffithsDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Scott B SnapperDivision of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Medicine, Children's Hospital Boston; Division of Gastroenterology and Hepatology, Brigham & Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Steven R BrantHarvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine and the Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.
James H DoroshowNational Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Mark S SilverbergMount Sinai Hospital Inflammatory Bowel Disease Group, University of Toronto, Zane Cohen Centre for Digestive Diseases, Toronto, Ontario, Canada.
Inga PeterDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Dermot P B McGovernF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Judy ChoSection of Gastroenterology, Department of Internal Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
John H BrumellSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Holm H UhligTranslational Gastroenterology Unit, Nuffield Department of Clinical Medicine and Children's Hospital, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
Billy BourkeConway Institute, School of Medicine, University College Dublin, Dublin, Ireland ; National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Aleixo A MuiseSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Ulla G KnausConway Institute, School of Medicine, University College Dublin, Dublin, Ireland ; National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
University College Dublin · IEIcahn School of Medicine at Mount Sinai · USCedars-Sinai Medical Center · USChildren's Health Ireland at Crumlin · IEJohns Hopkins University · USMount Sinai Hospital · CANational Institutes of Health · USSickKids Foundation · CAUniversity of Toronto · CAYale University · US
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9MSTRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WAYNE I LENCER · 1986 to 2026
$32.4MUsing polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI TARGAN, STEPHAN R. · 1992 to 2020
$31.1MInflammatory Bowel Disease Genetics Consortium Data Coordinating CenterU01DK062429 · NIDDK · YALE UNIVERSITY · PI CHO, JUDY H. · 2002 to 2016
$16.8MNADPH Oxidases as Novel Targets for Cancer TherapyZIABC010677 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI DOROSHOW, JAMES · 2009 to 2025
$15.1MUtilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2MThe Role of HLA and KIR in Rheumatoid Arthritis and Crohn's DiseaseU01AI067068 · NIAID · STANFORD UNIVERSITY · PI ERLICH, HENRY A, TRACHTENBERG, ELIZABETH A · 2005 to 2014
$10.9MYale University Inflammatory Bowel Disease Genetics Research CenterU01DK062422 · NIDDK · YALE UNIVERSITY · PI Ling-shiang Chuang · 2002 to 2026
$10.8MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MImpact of Genetic Variability on Cellular Pathways and Host-Microbiome InteractioU01DK062423 · NIDDK · SINAI HEALTH SYSTEM · PI MARK S. SILVERBERG · 2002 to 2026
$7.5MRoles of NADPH Oxidase 5 and Dual Oxidase 2 in CancerZIABC011076 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI DOROSHOW, JAMES · 2009 to 2016
$4.6MDefining the genetic architecture of IBD in Ashkenazi Jewish populationsR01DK092235 · NIDDK · YALE UNIVERSITY · PI CHO, JUDY H. · 2012 to 2016
$2.5MAHRQ HHS R01 HS021747NIAID NIH HHS U01 AI067068NIDDK NIH HHS P01 DK046763NIDDK NIH HHS P30 DK034854NIDDK NIH HHS R01 DK092235NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062422NIDDK NIH HHS U01 DK062423NIDDK NIH HHS U01 DK062429NIDDK NIH HHS U01 DK062431NIGMS NIH HHS T32 GM007205
Abstract
BACKGROUND &
aimsDefects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD). Reactive oxygen species (ROS) generated by nicotinamide-adenine dinucleotide phosphate (NADPH) oxidases in the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects in intestinal NADPH oxidases might be present in children with IBD.
methodsAfter targeted exome sequencing of epithelial NADPH oxidases
resultsWe identified missense mutations in
conclusionsThis study identifies the first inactivating missense variants in
Indexed as
DUOX2Inflammatory Bowel DiseaseNADPH OxidaseNOX1Reactive Oxygen SpeciesVEOIBD
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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.