Meleda Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.
|
16865292 |
2006 |
Meleda Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.
|
12535203 |
2003 |
Meleda Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
The results suggest that the ARS gene is likely to be responsible for MDM in the eight Tunisian families.
|
14674887 |
2003 |
Meleda Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Here we report a patient suffering from Mal de Meleda not associated with ARS mutations.
|
11872406 |
2002 |
Meleda Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently.
|
15909066 |
2005 |
Lung Diseases, Interstitial
|
0.050 |
Biomarker
|
group |
BEFREE |
Although we reported the clinical characteristics of interstitial lung disease with anti-ARS antibodies (ARS-ILD) with and without PM/DM, the long-term prognosis of ARS-ILD remains undetermined.
|
28461123 |
2017 |
Lung Diseases, Interstitial
|
0.050 |
Biomarker
|
group |
BEFREE |
Recently, a number of myositis-specific and -associated autoantibodies (MSAs/MAAs) have been identified and well characterized, and commercial assays for their detection have become available.<b>Areas covered</b>: There is accumulating evidence showing the utility of MSAs/MAAs in diagnosis of DM and in predicting clinical courses and outcomes in patients with DM as convenient biomarkers, i.e. an association of ILD with anti-ARS, anti-MDA5 and anti-SAE; and malignancy with anti-TIF1-γ, anti-NXP2, and anti-SAE in adults.
|
31779485 |
2020 |
Lung Diseases, Interstitial
|
0.050 |
Biomarker
|
group |
BEFREE |
Propensity score-matched analysis demonstrated that first-line PSL + CNI therapy for patients with ARS-PM/DM-ILD significantly improved the PFS compared with PSL monotherapy, although there was no significant difference regarding longterm survival.
|
30647164 |
2019 |
Lung Diseases, Interstitial
|
0.050 |
Biomarker
|
group |
BEFREE |
Patients with anti-aminoacyl-tRNA synthetase antibody (ARS-Ab) and anti-melanoma differentiation-associated gene 5 (MDA5)-Ab often have interstitial lung disease (ILD).
|
31631384 |
2019 |
Lung Diseases, Interstitial
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Among the MMPs analysed, MMP-7 serum levels in the ARS-ILD group were significantly higher compared with those in any of the other groups of PM/DM patients or in healthy controls.
|
30851107 |
2019 |
Malignant neoplasm of breast
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that genetic variants in core ARSs genes may modify the individual susceptibility to breast cancer in Chinese population.
|
24510587 |
2015 |
Malignant neoplasm of breast
|
0.020 |
Biomarker
|
disease |
BEFREE |
Interestingly, mRNA expression of steroid sulfatase STS, but not of arylsulfatases ARS-A and ARS-B, was significantly higher (p<0.0017) in non-malignant specimens than in tumor tissue samples, which might explain the higher resveratrol-3-O-sulfate concentrations in breast cancer specimens.
|
19747768 |
2010 |
Charcot-Marie-Tooth Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several aminoacyl-tRNA synthetase (ARS) genes have been implicated in inherited CMT disease.
|
27008886 |
2016 |
Charcot-Marie-Tooth Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Based on these data, KARS becomes the fourth ARS gene associated with CMT disease, indicating that this family of enzymes is specifically critical for axon function.
|
20920668 |
2010 |
Dermatomyositis
|
0.020 |
Biomarker
|
disease |
BEFREE |
The significantly lower frequency of anti-ARS antibodies and significantly higher frequency of anti-MDA5 antibodies in the Chinese patients were observed in the classic DM subset (14.7 % [10/68] versus 46.4 % [26/56], respectively, P < 0.001, and 45.6 % [31/68] versus 5.4 % [3/56], respectively, P < 0.001) and CADM subset (8.0 % [2/25] versus 28.8 % [15/52], respectively, P = 0.04, and 88.0 % [22/25] versus 44.2 % [23/52], respectively, P = 0.0002), but not in the PM subset.
|
25903820 |
2015 |
Dermatomyositis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Recently, a number of myositis-specific and -associated autoantibodies (MSAs/MAAs) have been identified and well characterized, and commercial assays for their detection have become available.<b>Areas covered</b>: There is accumulating evidence showing the utility of MSAs/MAAs in diagnosis of DM and in predicting clinical courses and outcomes in patients with DM as convenient biomarkers, i.e. an association of ILD with anti-ARS, anti-MDA5 and anti-SAE; and malignancy with anti-TIF1-γ, anti-NXP2, and anti-SAE in adults.
|
31779485 |
2020 |
Thrombocytopenia
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Ionizing radiation combined with trauma tissue injury (combined injury, CI) results in greater mortality and H-ARS than radiation alone (radiation injury, RI), which includes thrombocytopenia.
|
28408792 |
2017 |
Thrombocytopenia
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
The hemorrhagic syndrome associated with the ARS in rabbits is characterized by thrombocytopenia and hemostasis dysfunction, which appear to underlie the development of multiorgan dysfunction following TBI to rabbits.
|
31526203 |
2019 |
Adult type dermatomyositis
|
0.020 |
Biomarker
|
disease |
BEFREE |
The significantly lower frequency of anti-ARS antibodies and significantly higher frequency of anti-MDA5 antibodies in the Chinese patients were observed in the classic DM subset (14.7 % [10/68] versus 46.4 % [26/56], respectively, P < 0.001, and 45.6 % [31/68] versus 5.4 % [3/56], respectively, P < 0.001) and CADM subset (8.0 % [2/25] versus 28.8 % [15/52], respectively, P = 0.04, and 88.0 % [22/25] versus 44.2 % [23/52], respectively, P = 0.0002), but not in the PM subset.
|
25903820 |
2015 |
Adult type dermatomyositis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Recently, a number of myositis-specific and -associated autoantibodies (MSAs/MAAs) have been identified and well characterized, and commercial assays for their detection have become available.<b>Areas covered</b>: There is accumulating evidence showing the utility of MSAs/MAAs in diagnosis of DM and in predicting clinical courses and outcomes in patients with DM as convenient biomarkers, i.e. an association of ILD with anti-ARS, anti-MDA5 and anti-SAE; and malignancy with anti-TIF1-γ, anti-NXP2, and anti-SAE in adults.
|
31779485 |
2020 |
Breast Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that genetic variants in core ARSs genes may modify the individual susceptibility to breast cancer in Chinese population.
|
24510587 |
2015 |
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Interestingly, mRNA expression of steroid sulfatase STS, but not of arylsulfatases ARS-A and ARS-B, was significantly higher (p<0.0017) in non-malignant specimens than in tumor tissue samples, which might explain the higher resveratrol-3-O-sulfate concentrations in breast cancer specimens.
|
19747768 |
2010 |
Aniridia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened.
|
27929720 |
2018 |
Anxiety
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Rgs 2 gene polymorphisms as modulators of anxiety in humans?
|
16736243 |
2006 |
Anxiety Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Rgs 2 gene polymorphisms as modulators of anxiety in humans?
|
16736243 |
2006 |