|
Lupus Erythematosus, Systemic
|
0.330 |
Biomarker
|
disease |
BEFREE |
We describe a 17-year-old boy with DNase II deficiency, presenting a clinical picture with significant overlap with systemic lupus erythematosus.
|
31448075 |
2020 |
|
Lupus Erythematosus, Systemic
|
0.330 |
Biomarker
|
disease |
BEFREE |
Most Dnase1 and Dnase2 family members are poorly characterized, yet their elimination can lead to a wide range of diseases, including lethal anemia, parakeratosis, cataracts and systemic lupus erythematosus.
|
28666955 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.330 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Type I interferon-mediated autoinflammation due to DNase II deficiency.
|
29259162 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.330 |
Biomarker
|
disease |
BEFREE |
Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE.
|
15723160 |
2005 |
|
Fibrosis, Liver
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Dnase2<sup>-/-</sup> Ifnar<sup>-/-</sup> mice were shown to recapitulate many features of the DNase II-deficient patients including cytopenia, extramedullary hematopoiesis and liver fibrosis.
|
31464028 |
2020 |
|
Fibrosis, Liver
|
0.320 |
AlteredExpression
|
disease |
BEFREE |
In fatty livers, DNase II activity is suppressed in contrast to simple inactivation of Bcl-xL or Mcl-1, and both apoptotic and non-apoptotic hepatocyte death can develop, leading to the progression of liver fibrosis.
|
29855540 |
2019 |
|
Fibrosis, Liver
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Type I interferon-mediated autoinflammation due to DNase II deficiency.
|
29259162 |
2017 |
|
Glomerulonephritis, Membranoproliferative
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Type I interferon-mediated autoinflammation due to DNase II deficiency.
|
29259162 |
2017 |
|
Autoinflammatory disorder
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Type I interferon-mediated autoinflammation due to DNase II deficiency.
|
29259162 |
2017 |
|
Rheumatoid Arthritis
|
0.230 |
AlteredExpression
|
disease |
BEFREE |
Since the three SNPs in the promoter region of the DNase II gene could affect in vivo DNase II activity through reduction of the promoter activity, it is feasible to identify these SNPs susceptible to RA.
|
23019102 |
2012 |
|
Rheumatoid Arthritis
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
Intriguingly, homozygosity for the RA associated DNASE2 -1066 G allele had an additive effect on the disease susceptibility conferred by the wt allele of CCR5 (OR = 2.24, P = 0.0051 for carrier of both RA associated alleles)
|
19538721 |
2009 |
|
Rheumatoid Arthritis
|
0.230 |
Biomarker
|
disease |
BEFREE |
The association of DNASE2 -1066 GG homozygosity with RA was limited to rheumatoid factor-positive disease, but was not influenced by the presence of anti-cyclic citrullinated peptide or antinuclear antibodies.
|
18812394 |
2009 |
|
Rheumatoid Arthritis
|
0.230 |
Biomarker
|
disease |
MGD |
|
|
|
|
Arthritis, Adjuvant-Induced
|
0.200 |
Biomarker
|
disease |
CTD_mouse |
Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation.
|
20974942 |
2010 |
|
Splenomegaly
|
0.200 |
Biomarker
|
phenotype |
CTD_mouse |
Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation.
|
20974942 |
2010 |
|
Arthritis, Collagen-Induced
|
0.200 |
Biomarker
|
disease |
CTD_mouse |
Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation.
|
20974942 |
2010 |
|
Arthritis, Experimental
|
0.200 |
Biomarker
|
disease |
CTD_mouse |
Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation.
|
20974942 |
2010 |
|
Reticulocyte count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Seventy-five genetic loci influencing the human red blood cell.
|
23222517 |
2012 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
|
19862010 |
2009 |
|
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
To continue our previous investigations, we have extensively investigated the function of the 61, 41, and 35 non-synonymous single nucleotide polymorphisms (SNPs) in the human genes encoding DNASE1, DNASE1L3, and DNASE2, respectively, potentially relevant to autoimmune diseases.
|
27116004 |
2016 |
|
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
In addition, if nucleases, such as DNase II or DNase III (Trex1), fail to clear self-DNA, accumulated DNA gains access to intracellular compartments where it drives inflammatory responses leading to autoimmune disease.
|
23417527 |
2013 |
|
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
The association of SNPs in the 5'-regulatory region of the DNA degrading enzyme DNASE2 with RA implies a role for this enzyme in the pathogenesis of this autoimmune disease.
|
18812394 |
2009 |
|
Fatty Liver
|
0.020 |
Biomarker
|
disease |
BEFREE |
Inhibition of DNL is a successful approach to reverse hepatic steatosis, as shown by different studies in mice and humans.
|
30630736 |
2019 |
|
Anemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Most Dnase1 and Dnase2 family members are poorly characterized, yet their elimination can lead to a wide range of diseases, including lethal anemia, parakeratosis, cataracts and systemic lupus erythematosus.
|
28666955 |
2017 |