Associated Papers
Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.
Natoli V et al.
Current Rheumatology Reports, 2025
A deep dive into monogenic lupus: insights on DNASE1L3 mutation.
Abdwani R et al.
Rheumatology (oxford, England), 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
[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
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M et al.
Journal of Clinical Immunology, 2022
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3
Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant.
Paç Kisaarslan A et al.
Journal of Pediatric Hematology/oncology, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.
Ueki M et al.
The Febs Journal, 2014
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
Al-Mayouf SM et al.
Nature Genetics, 2011
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