|
Nodule
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Increase in dsDNA content (p < 0.0005), up-regulation of RUNX2, ALPL, SPP1 (p < 0.0005) and SOX9 (p < 0.005) gene expression, and more calcium nodule formation (p < 0.0005) were observed in d3D cultures in comparison to s3D ones over time.
|
31506241 |
2020 |
|
Arteriosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Contrary to our hypothesis, hA rg neither inhibited TNAP activity in vivo nor reduced coronary artery calcification and atherosclerosis in WHC -endothelial TNAP mice; however, compared with the placebo, hA rg prevented left ventricular dilatation ( P<0.01), preserved ejection fraction ( P<0.05), and reduced myocardial fibrosis ( P<0.001).
|
31304837 |
2019 |
|
Atherosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Contrary to our hypothesis, hA rg neither inhibited TNAP activity in vivo nor reduced coronary artery calcification and atherosclerosis in WHC -endothelial TNAP mice; however, compared with the placebo, hA rg prevented left ventricular dilatation ( P<0.01), preserved ejection fraction ( P<0.05), and reduced myocardial fibrosis ( P<0.001).
|
31304837 |
2019 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer.
|
31092635 |
2019 |
|
Cardiovascular Diseases
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Within the obese population, we observed that ALPL expression level showed significantly positive association with CVD risk factors (p < 0.05) including systolic blood pressure, diastolic blood pressure, mean arterial pressure, carotid intima-media thickness and borderline significance with fasting insulin (p = 0.08).
|
30837522 |
2019 |
|
Cockayne Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
The combination of TNAP inhibitor levamisole and eNTPD inhibitor ARL67156 increased the synthesis and reduced the degradation of pyrophosphate in aortas and blood ex vivo, suggesting that these combined inhibitors could represent a therapeutic approach for this devastating progeroid syndrome.
|
31690656 |
2019 |
|
Coronary Arteriosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that hA rg will exert beneficial effects by reducing calcification in a mouse model of coronary artery disease associated with TNAP overexpression and hypercholesterolemia.
|
31304837 |
2019 |
|
Coronary heart disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that hA rg will exert beneficial effects by reducing calcification in a mouse model of coronary artery disease associated with TNAP overexpression and hypercholesterolemia.
|
31304837 |
2019 |
|
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study identified one novel marker ALPL of neutrophil activation in response to obesity and provided evidence that obesity induced change in ALPL expression was associated with CVD risk factors.
|
30837522 |
2019 |
|
Progeria
|
0.010 |
Biomarker
|
disease |
BEFREE |
Moreover, pyrophosphate synthesis from ATP was reduced and pyrophosphate hydrolysis (via TNAP; pyrophosphate → phosphate) was increased in both aortas and blood obtained from mice with HGPS.
|
31690656 |
2019 |
|
Pseudoxanthoma Elasticum
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading inorganic pyrophosphate, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6<sup>-/-</sup> mouse model of PXE.
|
30130617 |
2019 |
|
Left ventricular dilatation
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Contrary to our hypothesis, hA rg neither inhibited TNAP activity in vivo nor reduced coronary artery calcification and atherosclerosis in WHC -endothelial TNAP mice; however, compared with the placebo, hA rg prevented left ventricular dilatation ( P<0.01), preserved ejection fraction ( P<0.05), and reduced myocardial fibrosis ( P<0.001).
|
31304837 |
2019 |
|
Pigmentation Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer.
|
31092635 |
2019 |
|
Muscle fibrosis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
TNAP limits TGF-β-dependent cardiac and skeletal muscle fibrosis by inactivating the SMAD2/3 transcription factors.
|
31289197 |
2019 |
|
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
This data supports that ALPL might restrict the function of WNT5A-FZD2-STAT3 axis, a non-canonical WNT pathway for promoting EMT progression, which results in attenuated migration and invasion in HGSOC cells and improves survival in patients with SOC.
|
30979497 |
2019 |
|
Primary malignant neoplasm
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer.
|
31092635 |
2019 |
|
Skin Pigmentation Disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer.
|
31092635 |
2019 |
|
Arthrogryposis, renal dysfunction, and cholestasis 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer.
|
31092635 |
2019 |
|
Coronary Artery Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that hA rg will exert beneficial effects by reducing calcification in a mouse model of coronary artery disease associated with TNAP overexpression and hypercholesterolemia.
|
31304837 |
2019 |
|
Low density lipoprotein receptor mutation
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Methods and Results TNAP was overexpressed in the endothelium in mice homozygous for a low-density lipoprotein receptor mutation (wicked high cholesterol [ WHC ] allele).
|
31304837 |
2019 |
|
Metabolic Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene.
|
29160033 |
2018 |
|
Vascular calcification
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Among different isozymes of AP, aberrant increase in the level of tissue non-specific alkaline phosphatase (TNAP) is strongly associated with vascular calcification and end-stage renal diseases.
|
29268128 |
2018 |
|
SCHIZOPHRENIA 10
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The second hypothesis postulates that periodic catatonia (PC) on 15q15 involves abnormalities of vacuolar protein sorting 39 (VPS39), a proven de novo schizophrenic gene in this chromosomal locus and part of the HOPS complex.
|
29523295 |
2018 |
|
Osteoblastic Osteosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this work we studied the physiological role of HOTAIR during the process of mineralization using osteoblastic osteosarcoma cells focusing in ALPL (Tissue Non-Specific Alkaline Phosphatase), a pivotal gene that controls bone formation.
|
29846771 |
2018 |
|
Dental Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Variants in the ALPL gene cause bone and dental disease in patients with and without the standard biomarker, low plasma AlkP.
|
29659871 |
2018 |