ArticleNature genetics2017
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
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Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers.
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115citing papers in PubMed
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115 citing papers in PubMed, 176 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- NADPH oxidase 2 (NOX2)-independent inducers of neutrophil extracellular traps promote resolution of chronic inflammation.Redox biology · 2026Article
- NOX2 deficiency exacerbates lupus nephritis through activation of NLRP3 inflammasome in neutrophils.Journal of biomedical science · 2026Article
- Murine and Humanized Mouse Models in Autoimmune Disease Research and Therapeutics Development.Biology · 2026Review
- Orofacial granulomatosis in pediatric Crohn's disease: clinical outcomes and genetic background in the era of biologics: a retrospective study in Japan.Intestinal research · 2026Article
- Ferroptosis as a Pathogenic Mechanism and Therapeutic Target in Autoimmune and Inflammatory Skin Diseases.Clinical reviews in allergy & immunology · 2026Review
- DSSA-PPI: enhancing binding affinity change prediction upon protein mutations using disentangled structure-sequence aware attention.Chemical science · 2026Article
- Reactive Oxygen Species-Induced Modifications of Fibrin Clots as a Link Between Immune Responses and Atherothrombosis in Systemic Lupus Erythematosus.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- The type 1 and type 3 immune responses underlying the tissue inflammation associated with NOX2 deficiency.Frontiers in immunology · 2026Review
- Case Report: Severe neonatal lupus in an infant with homozygousFrontiers in immunology · 2026Article
- The Role of Innate Lymphoid Cells in the Pathogenesis of Hepatic Echinococcosis: A Literature Review.Parasite immunology · 2026Review
- Urinary 8-oxoGuo as a potential novel evaluation biomarker for patients with systemic lupus erythematosus.Clinical and experimental medicine · 2025Article
- Immunopathogenesis of Systemic Lupus Erythematosus: Interplay of Innate and Adaptive Immunity, Microbiome Dysbiosis, and Emerging Therapeutic Targets.Pathophysiology : the official journal of the International Society for Pathophysiology · 2025Review
- Recent insights into the role of innate immunity in lupus.Human molecular genetics · 2025Review
- Role of Neutrophils in Homeostasis and Diseases.MedComm · 2025Review
- Association of ficolin single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han Population.Rheumatology and immunology research · 2025Article
- NADPH oxidases: redox regulation of cell homeostasis and disease.Physiological reviews · 2025Review
- Review
- Post-genome-wide association study dissects genetic vulnerability and risk gene expression of Sjögren's disease for cardiovascular disease.Journal of translational medicine · 2025Article
- The Role of NADPH Oxidase 2 in Leukocytes.Antioxidants (Basel, Switzerland) · 2025Review
55 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 10 institutions in 3 countries.
Jian ZhaoDivision of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Jianyang MaShanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yun DengDivision of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Jennifer A KellyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Kwangwoo KimDepartment of Biology, Kyung Hee University, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-8926-6216
So-Young BangDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea.
Hye-Soon LeeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea.
Quan-Zhen LiDepartment of Immunology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Edward K WakelandDepartment of Immunology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Rong QiuInstitute of Health Sciences, Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences (SIBS), University of Chinese Academy of Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
Mengru LiuDepartment of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China.
Jianping GuoDepartment of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China.
Zhanguo LiDepartment of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China.
Wenfeng TanDepartment of Rheumatology, First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Astrid RasmussenArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Christopher J LessardArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Kathy L SivilsArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Bevra H HahnDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Jennifer M GrossmanDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Diane L KamenDivision of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Gary S GilkesonDivision of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Sang-Cheol BaeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea.
Patrick M GaffneyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Nan ShenShanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Betty P TsaoDivision of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Medical University of South Carolina · USOklahoma Medical Research Foundation · USHanyang University Seoul Hospital · KRPeking University · CNShanghai Jiao Tong University · CNThe University of Texas Southwestern Medical Center · USUniversity of California, Los Angeles · USCincinnati Children's Hospital Medical Center · USJiangsu Province Hospital · CNKyung Hee University · KR
Funding
Tracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI PAUL G SPICER · 2013 to 2026
$68.2MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MSouth Carolina Clinical & Translational Research Institute (SCTR)UL1TR001450 · NCATS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BRADY, KATHLEEN T., FLUME, PATRICK A · 2015 to 2024
$41.1MUCLA CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033176 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$15.5MResource CoreP30AR072582 · NIAMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI JAMES C OATES · 2017 to 2026
$8.5MPathogenic B Cells in Sjogren's SyndromeP50AR060804 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI MONTGOMERY, COURTNEY · 2011 to 2015
$7.9MHLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8MSNP Confirmation and High Throughput Genotyping CoreP30AR053483 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GUTHRIDGE, JOEL MARVIN · 2007 to 2017
$6.7MGENE MAPPING IN WOMEN WITH SYSTEMIC LUPUS ERYTHEMATOSUSR01AR043274 · NIAMS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI SIVILS, KATHY L. · 1996 to 2010
$6.5MPre-Clinical Studies to Identify SLE Therapeutic TargetsU19AI082714 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GAFFNEY, PATRICK M · 2009 to 2018
$6.2MQuantitative Analysis Core P30GM110766 · NIGMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GAFFNEY, PATRICK M · 2014 to 2018
$6.1MTNFAIP3 (A20) and Susceptibility to Systemic Lupus ErythematosusR01AR056360 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GAFFNEY, PATRICK M · 2009 to 2018
$6.0MNCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001450NCRR NIH HHS UL1 RR033176NIAID NIH HHS R01 AI024717NIAID NIH HHS U19 AI082714NIAMS NIH HHS P30 AR053483NIAMS NIH HHS P30 AR072582NIAMS NIH HHS P50 AR060804NIAMS NIH HHS P60 AR062755NIAMS NIH HHS R01 AR043274NIAMS NIH HHS R01 AR043814NIAMS NIH HHS R01 AR050782NIAMS NIH HHS R01 AR056360NIAMS NIH HHS R01 AR063124NIAMS NIH HHS R01 AR065953NIAMS NIH HHS R21 AR065626NIDCR NIH HHS R01 DE015223NIDCR NIH HHS R01 DE018209NIGMS NIH HHS P30 GM103510NIGMS NIH HHS P30 GM110766NIGMS NIH HHS U54 GM104938
Abstract
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47
Indexed as
Asian PeopleAutoimmune DiseasesBlack or African AmericanCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansLupus Erythematosus, SystemicMaleNADPH OxidasesPolymorphism, Single NucleotideReactive Oxygen SpeciesSjogren's SyndromeWhite PeopleNADPH Oxidasesneutrophil cytosolic factor 1Reactive Oxygen Species
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