Associated Papers
Whole exome sequencing analysis of suicidal thoughts and behaviors in a veteran cohort implicates inflammatory pathways and genes previously associated with psychiatric and neurodegenerative diseases.
Garrett ME et al.
Journal of Affective Disorders, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Macrophage retrotransposon expression is associated with lupus.
Zhong J et al.
Genes and Immunity, 2025
Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma.
Trang PTH et al.
Current Issues in Molecular Biology, 2025
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
The systemic lupus erythematosus-associated NCF190H allele synergizes with viral infection to cause mouse lupus but also limits virus spread.
Li Y et al.
Nature Communications, 2025
Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1+ monocytes-derived macrophages.
Yuan X et al.
Annals of the Rheumatic Diseases, 2025
The autoimmune disease risk variant NCF1-His90 is associated with a reduced risk of tuberculosis in women.
Hu X et al.
Frontiers in Immunology, 2025
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.
Hsu AP et al.
Frontiers in Immunology, 2025
Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.
Hu Y et al.
Iscience, 2024
Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.
Ghodke-Puranik Y et al.
Nature Reviews. Rheumatology, 2024
Vitamin D in Primary Sjogren's Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases.
Dabravolski SA et al.
Diagnostics (basel, Switzerland), 2024
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
Reactive oxygen species regulation by NCF1 governs ferroptosis susceptibility of Kupffer cells to MASH.
Zhang J et al.
Cell Metabolism, 2024
NADPH oxidase exerts a B cell-intrinsic contribution to lupus risk by modulating endosomal TLR signals.
Liu S et al.
The Journal of Experimental Medicine, 2024
Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6.
Chen D et al.
Annals of the Rheumatic Diseases, 2023
The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.
Deng X et al.
Journal of Assisted Reproduction and Genetics, 2023
Human NCF190H Variant Promotes IL-23/IL-17-Dependent Mannan-Induced Psoriasis and Psoriatic Arthritis.
Li Y et al.
Antioxidants (basel, Switzerland), 2023
Genetic dissection of HLA-DRB1*15:01 and XL9 region variants in Japanese patients with systemic lupus erythematosus: primary role for HLA-DRB1*15:01.
Kawasaki A et al.
Rmd Open, 2023
NCF1-dependent production of ROS protects against lupus by regulating plasmacytoid dendritic cell development and functions.
Luo H et al.
Jci Insight, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
Xi B et al.
Frontiers in Genetics, 2023
Risk variant regulates pDC hyperactivation in SLE.
McHugh J
Nature Reviews. Rheumatology, 2022
Meta-Analysis and Systematic Review of the Association between a Hypoactive NCF1 Variant and Various Autoimmune Diseases.
Zhang L et al.
Antioxidants (basel, Switzerland), 2022
The NCF1 variant p.R90H aggravates autoimmunity by facilitating the activation of plasmacytoid dendritic cells.
Meng Y et al.
The Journal of Clinical Investigation, 2022
Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.
Berger K et al.
Journal of Personalized Medicine, 2022
Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages.
Geng L et al.
Annals of the Rheumatic Diseases, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
A missense variant in NCF1 is associated with susceptibility to unexplained recurrent spontaneous abortion.
Du M et al.
Open Life Sciences, 2022
Genome-wide association study on Northern Chinese identifies KLF2, DOT1L and STAB2 associated with systemic lupus erythematosus.
Song Q et al.
Rheumatology (oxford, England), 2021
Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case report.
Goulielmos GN et al.
Pediatric Rheumatology Online Journal, 2021
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Schnappauf O et al.
Pediatric Rheumatology Online Journal, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.
Seifert M et al.
Cancers, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.
Sacco KA et al.
Journal of Clinical Immunology, 2020
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations.
Scimone C et al.
Frontiers in Genetics, 2020
Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.
Zhang TP et al.
Journal of Immunology Research, 2020
Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.
Yokoyama N et al.
Scientific Reports, 2019
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.
Chen C et al.
International Journal of Dermatology, 2019
Genetic and Clinical Profiles of Disseminated Bacillus Calmette-Guérin Disease and Chronic Granulomatous Disease in China.
Li T et al.
Frontiers in Immunology, 2019
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018