Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
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Type I interferonopathies in pediatric rheumatologyGenes associated with SLE are targets of recent positive selectionThe pathogenesis of keratoconusNETosis in Cancer - Platelet-Neutrophil Crosstalk Promotes Tumor-Associated PathologyNucleic Acid-Sensing Receptors: Rheostats of Autoimmunity and AutoinflammationAdvances in lupus geneticsMutations in LRPAP1 are associated with severe myopia in humansGenetics and genomic medicine in Saudi ArabiaCgnz1 allele confers kidney resistance to damage preventing progression of immune complex-mediated acute lupus glomerulonephritis.Autoimmunity, end organ damage, and the origin of autoantibodies and autoreactive T cells in systemic lupus erythematosus.Neutrophil extracellular traps: is immunity the second function of chromatin?Solving the genetic puzzle of systemic lupus erythematosus.Lupus pathobiology based on genomics.Autoimmunity: homeostasis of innate immunity gone awry.Dnase1L3 Regulates Inflammasome-Dependent Cytokine Secretion.Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.NETs: the missing link between cell death and systemic autoimmune diseases?An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3Lupus risk variants in the PXK locus alter B-cell receptor internalization.Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk geneDefective removal of ribonucleotides from DNA promotes systemic autoimmunity.DNA-responsive inflammasomes and their regulators in autoimmunityImmunogenetics of systemic lupus erythematosus: A comprehensive review.Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis.Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesisGene network analysis of small molecules with autoimmune disease associated genes predicts a novel strategy for drug efficacy.Oxidized mitochondrial nucleoids released by neutrophils drive type I interferon production in human lupus.Geographical Clustering of Juvenile Onset Systemic Lupus Erythematosus within the Sultanate of Oman.Digestion of Chromatin in Apoptotic Cell Microparticles Prevents AutoimmunityDeficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.Genetics of the type I interferon pathway in systemic lupus erythematosus.Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencingAssessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.Immunity and autoimmunity to dsDNA and chromatin--the role of immunogenic DNA-binding proteins and nuclease deficiencies.Discovery of rare homozygous mutations from studies of consanguineous pedigrees.Neutrophils come of age in chronic inflammation.The role of somatic hypermutation in the generation of pathogenic antibodies in SLE.
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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
description
im Oktober 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 23 October 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2011
@uk
name
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@en
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@nl
type
label
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@en
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@nl
prefLabel
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@en
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@nl
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P2860
P50
P356
P1433
P1476
Loss-of-function variant in DN ...... f systemic lupus erythematosus
@en
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Abdullah Al Sonbul
Aliya Qari
Asma Sunker
Eiman Abdallah
Fathiya Almurshedi
Hanan Al-Rayes
Hanif Khalak
Latifa Al-Jebali
Mais Hashem
Mohammed Al-Owain
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P2888
P304
P356
10.1038/NG.975
P407
P577
2011-10-23T00:00:00Z
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1004984485