|
Hypertrophic Cardiomyopathy
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.
|
20801532 |
2010 |
|
Hypertrophic Cardiomyopathy
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs.
|
9334352 |
1997 |
|
Cardiomyopathies
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Nodule
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
ALP activity and mineralized nodule formation test were used to evaluate bone formation.
|
28963864 |
2017 |
|
Nodule
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Sema4D significantly inhibited ALP activity and mineralized nodule formation of DPSCs.
|
28027822 |
2017 |
|
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 |
|
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 |
|
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 |
|
Hypophosphatasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Six missense mutations were identified in three Chinese hypophosphatasia pedigrees with subnormal serum ALP activity.
|
24022022 |
2013 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |