TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.
|
31268248 |
2019 |
TORG-WINCHESTER SYNDROME
|
0.790 |
Biomarker
|
disease |
BEFREE |
We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders.
|
26601801 |
2016 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the molecular and functional analysis of a novel MMP2 mutation in two adult Italian siblings with MONA.
|
25273674 |
2014 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene.
|
24637309 |
2014 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy.
|
20560960 |
2010 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
|
20720557 |
2010 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant.
|
19653001 |
2010 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the MMP2 gene in a patient with clinical and radiographic findings of Torg syndrome.
|
17059372 |
2007 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We questioned whether sporadic idiopathic multicentric osteolysis with nephropathy is allelic with nodulosis-arthropathy osteolysis syndrome and undertook sequence analysis of the matrix metalloproteinase 2 gene in three unrelated affected boys.
|
17563705 |
2007 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous MMP2 mutation in a family with Winchester syndrome.
|
16542393 |
2006 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
|
15691365 |
2005 |
TORG-WINCHESTER SYNDROME
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
|
11431697 |
2001 |
TORG-WINCHESTER SYNDROME
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
TORG-WINCHESTER SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
TORG-WINCHESTER SYNDROME
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
JMJD2D was required for expression of β-catenin in CRC cell lines; ectopic expression of JMJD2D increased the promoter activities of genes regulated by β-catenin (MYC, CCND1, MMP2, and MMP9).
|
30472235 |
2019 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In an analysis of the miRNA target genes, we found that CDH2, KNG1, and MMP2 were correlated with CRC metastasis.
|
30807603 |
2019 |
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
The present study therefore investigated whether aortic MMP-2 activity is increased by oxidative stress in early hypertension and then contributes to hypertrophic arterial remodeling by reducing the levels of calponin-1.
|
30339939 |
2019 |
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Vascular MMP-2 expression and activity were assessed by gel zymography, Western blot, and in situ zymography increased with hypertension.
|
30399409 |
2019 |
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The associations of urinary cadmium with hypertension risk were modified by rs14070 (P-value for interaction = 0.022) and rs7201 (P-value for interaction = 0.009) in gene MMP-2.
|
30684802 |
2019 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The expressions of VEGF and MMP-2 in serum of CRC patients were correlated with the depth of tumor infiltration, Dukes' staging, CLM and lymph node metastasis (p<0.05).
|
29917190 |
2018 |
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Twist1/2 activates MMP2 expression via binding to its promoter in colorectal cancer.
|
30556860 |
2018 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our findings in this study provide understanding of MMP2 regulation in CRC and may also shed lights on the development of anti-CRC treatments.
|
29260353 |
2018 |
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Tumor and adjacent healthy tissues were obtained from 100 patients diagnosed with CRC. miR-466 expression was determined by quantitative reverse transcription polymerase chain reaction (qRT-PCR). mRNA and protein levels of cyclin D1, apoptosis regulator BAX (BAX), and matrix metalloproteinase-2 (MMP-2) were analyzed by qRT-PCR and Western blot, respectively, in SW-620 CRC cells transfected with miR-466 mimics or negative control miRNA.
|
29338680 |
2018 |
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This resulted in the increased expression of matrix metalloproteinase 2 (MMP2), matrix metalloproteinase 9 (MMP9) and vascular endothelial growth factor (VEGF), and the subsequent promotion of CRC cell invasion.
|
30228782 |
2018 |