Property Summary

NCBI Gene PubMed Count 27
Grant Count 17
R01 Count 2
Funding $3,742,021.22
PubMed Score 203.58
PubTator Score 47.69

Knowledge Summary

Patent

No data available

Expression

Gene RIF (15)

PMID Text
25332064 Data indicate a likely functional variant influencing scleroderma susceptibility at deoxyribonuclease I-like 3 protein DNASE1L3 missense polymorphism rs35677470.
24206041 Single nucleotide polymorphisms in the DNASE1L3 is associated with autoimmune diseases.
23666765 DNASE1L3 mutations occur in hypocomplementemic urticarial vasculitis syndrome.
23229555 These results suggest a cooperative activity between CAD and DNAS1L3 to accomplish internucleosomal DNA fragmentation .
22019780 We identified a rare autosomal recessive form of systemic lupus erythematosus, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene
21692081 investigates the distribution of DNASE1L3 gene SNPs in exons of the gene in eight Asian, three African, and three Caucasian populations worldwide using newly devised genotyping methods.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19574717 Results distinguish DNase gamma-dependent and CAD/DFF40-dependent DNA fragmentations, and show that even if DNA fragmentation is initiated by CAD/DFF40, DNase gamma is required for the more complete digestion of the genomic DNA in dying cells.
19559017 A Caucasian-specific allele in SNP R206C produces an inactive form of DNase Il3.
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AA Sequence

MSRELAPLLLLLLSIHSALAMRICSFNVRSFGESKQEDKNAMDVIVKVIKRCDIILVMEIKDSNNRICPI      1 - 70
LMEKLNRNSRRGITYNYVISSRLGRNTYKEQYAFLYKEKLVSVKRSYHYHDYQDGDADVFSREPFVVWFQ     71 - 140
SPHTAVKDFVIIPLHTTPETSVKEIDELVEVYTDVKHRWKAENFIFMGDFNAGCSYVPKKAWKNIRLRTD    141 - 210
PRFVWLIGDQEDTTVKKSTNCAYDRIVLRGQEIVSSVVPKSNSVFDFQKAYKLTEEEALDVSDHFPVEFK    211 - 280
LQSSRAFTNSKKSVTLRKKTKSKRS                                                 281 - 305
//

Text Mined References (32)

PMID Year Title
27293190 2016 Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity.
25332064 2014 An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
24312463 2013 DNase ? is the effector endonuclease for internucleosomal DNA fragmentation in necrosis.
24206041 2014 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.
23666765 2013 DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.
23568457 2013 Genetic variants associated with disordered eating.
23229555 2013 Apoptotic DNA fragmentation may be a cooperative activity between caspase-activated deoxyribonuclease and the poly(ADP-ribose) polymerase-regulated DNAS1L3, an endoplasmic reticulum-localized endonuclease that translocates to the nucleus during apoptosis.
22019780 2011 Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
21692081 2011 Global genetic analysis of all single nucleotide polymorphisms in exons of the human deoxyribonuclease I-like 3 gene and their effect on its catalytic activity.
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