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 |
MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy.
|
20560960 |
2010 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
|
20720557 |
2010 |
TORG-WINCHESTER SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, our study demonstrated that MMP2 is an important factor related to carcinogenesis and metastasis of CRC, and MMP2 promotes CRC cell growth and invasion by up-regulating VEGF and MT1-MMP expression, which makes this pathway a potential target for cancer treatment.
|
21968416 |
2011 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the present study, we investigate whether MMP-2 SNP, MMP-2 mRNAs, and MMP-2 protein are associated with the susceptibility to colorectal cancer in the Tunisian population.
|
27922483 |
2017 |
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 |
AlteredExpression
|
disease |
BEFREE |
In the present review, the clinical relevance and the prognostic value of messenger ribonucleic acid (mRNA) and protein expression and proenzyme activation of MMP-2 and MMP-9 are evaluated in relation to colorectal cancer.
|
15588763 |
2004 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
MMP-2 geno-phenotype is prognostic for colorectal cancer survival, whereas MMP-9 is not.
|
18506186 |
2008 |
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 |
Plasma MMP-2 levels were also significantly elevated in patients with colorectal cancer, with significant reductions following curative resections at all stages.
|
14520690 |
2003 |
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Down-regulation of DAB2IP correlated negatively with hnRNPK and MMP2 expressions in CRC tissues.
|
28335083 |
2017 |
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In addition, we found that ING4 strongly inhibited CRC angiogenesis by suppressing Sp1 expression and transcriptional activity through ubiquitin degradation and down-regulating the expressions of Sp1 downstream pro-angiogenic genes, MMP-2 and COX-2.
|
27806345 |
2016 |
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MMP-2 C-1306T SNP is significantly associated with CRC in the Saudi population and this finding suggested that MMP-2 variants might help predict CRC progression risk among Saudis.
|
24289619 |
2013 |