Associated Papers
Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.
Natoli V et al.
Current Rheumatology Reports, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases.
Volpi S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.
Skaug B et al.
Rheumatology (oxford, England), 2023
Systemic Lupus Erythematosus Patients with DNASE1L3·Deficiency Have a Distinctive and Specific Genic Circular DNA Profile in Plasma.
Gerovska D et al.
Cells, 2023
[A monogenic lupus family caused by homozygous deletions of DNASE1L3 gene and literature review].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus.
Al-Mayouf SM et al.
Clinical Rheumatology, 2022
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M et al.
Journal of Clinical Immunology, 2022
Contribution of Impaired DNASE1L3 Activity to Anti-DNA Autoantibody Production in Systemic Lupus Erythematosus.
Mathapathi S et al.
Rheumatology and Immunology Research, 2022
Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis.
Kisla Ekinci RM et al.
European Journal of Medical Genetics, 2021
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.
Girardelli M et al.
Pediatric Rheumatology Online Journal, 2021
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
Chan RWY et al.
American Journal of Human Genetics, 2020
Neutrophil Extracellular Traps Profiles in Patients with Incident Systemic Lupus Erythematosus and Lupus Nephritis.
Bruschi M et al.
The Journal of Rheumatology, 2020
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Belot A et al.
The Lancet. Rheumatology, 2020
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
Batu ED et al.
The Journal of Rheumatology, 2018
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.
Carbonella A et al.
Lupus, 2017
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.
Ozçakar ZB et al.
Arthritis and Rheumatism, 2013
Editorial: entering the age of whole-exome sequencing in rheumatic diseases: novel insights into disease pathogenicity.
Okada Y et al.
Arthritis and Rheumatism, 2013