NAT10, N-acetyltransferase 10, 55226

N. diseases: 133; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE After 14 days of osteoblastic induction, osteoblast phenotypes were detected by ALP and calcium nodule staining, and the expression of BMP-2 and TGF-β1 was observed by western blotting. 31481070 2019
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase. 30289311 2018
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE In addition, up-regulation of Fam50a also increased ALP activity and mineralized nodule formation in a dose-dependent manner. 28574578 2018
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE In C-OPLL cells, leptin treatment led to a significant increase in mRNA expressions of ALP and OCN and formation of mineralized nodule. 29970120 2018
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE Subsequently, examination of mineralized nodule formation and evaluation of alkaline phosphatase (ALP) activity and ALP gene expression revealed that the most effective concentration of BDNF to elicit a response in hBMSCs was 100 ng/mL. 29490590 2018
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 GeneticVariation disease BEFREE Hypophosphatasia (HPP) is a rare genetic disorder resulting in variable alterations of bone formation and mineralization that are caused by mutations in the ALPL gene, encoding the tissue-nonspecific alkaline phosphatase (ALP) enzyme. 28436937 2017
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth. 28000043 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE However, expression levels of Runx2, BSP, ephrinB2 and EphB4, as well as ALP activity and mineral nodule formation, were significantly enhanced in MC3T3-E1 cells treated with low concentrations of TNF-α. 27726217 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE Sema4D significantly inhibited ALP activity and mineralized nodule formation of DPSCs. 28027822 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 Biomarker phenotype BEFREE Among the screened library, ethyl 4-(7-(sec-butyl)-2-(4-methylbenzoyl)benzofuran-5-yl)-2-methyl-5-oxo-1,4,5,6,7,8-hexahydroquinoline-3-carboxylate (compound 21) significantly enhanced the ALP production and mineralized nodule formation, which are primary requisites in the process of in vitro osteogenesis. 29097030 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE Overexpression of PHF20 enhanced ALP activity and mineralized nodule formation as well as the expression of osteogenic markers including Runx2. 28808306 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE Furthermore, GILZ (dexamethasone-induced) inhibition caused by icariin or moderately silenced by GILZ siRNA abolished the osteogenesis inhibition effect of dexamethasone, as indicated by the changes in the GILZ, ALP, OPG and RANKL expression levels; ALP activity; and calcium nodule. 28363169 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE ALP activity and mineralized nodule formation test were used to evaluate bone formation. 28963864 2017
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE The results indicated that ASA VI promoted the proliferation of OVX rBMSCs and enhanced ALP activity and calcified nodule formation. 27756897 2016
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression phenotype BEFREE Transfection with shRNAs markedly increased mineralized nodule formation and the osteogenic-related markers ALP and OCN levels in hPDLCs, whereas the overexpression of S100A4 significantly reduced mineralized nodule formation, and increased the matrix degradation enzymes MMP-2 and MMP-13 levels in hPDLCs. 26499072 2015
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease BEFREE Six missense mutations were identified in three Chinese hypophosphatasia pedigrees with subnormal serum ALP activity. 24022022 2013
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease BEFREE Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. 10679946 2000
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. 10451522 1999
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease BEFREE The mean ratio of iBALP or iTNSALP level to total ALP activity was unremarkable for the mild childhood, adult, and odonto forms of hypophosphatasia. 8964842 1996
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE Introduction of the mutation into an otherwise normal cDNA disrupted the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene resulted in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization. 2605956 1989
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease BEFREE Our results demonstrate that the deficiency of ALP activity in fibroblasts from 14 patients with severe hypophosphatasia is not due to decreased steady-state levels of the corresponding mRNA. 2705456 1989
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE Introduction of this mutation into an otherwise normal cDNA by site-directed mutagenesis abolishes the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene results in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization. 3174660 1988
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression disease BEFREE The expression levels of osteoporosis-related genes (ALP, OCN, and OPN) were found to be decreased in hBMSCs treated with sh-BMP1. 30638953 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression disease BEFREE BMSCs in OP mice transfected with miR-196a mimic or si-GNAS displayed the elevated expression of Smo, ALP, Runx2, and OPN, as well as bone gla protein and tartrate-resistant acid phosphatase, elevated ALP vitality and bone formation ability as well as reduced expression of GNAS and PTCH. 31452264 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression disease BEFREE Decreased Runx2 expression and ALP activity were found after treatment of MSCs-derived exosomes extracted from osteoporosis patients. 30338786 2018