|
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
|
15691365 |
2005 |
|
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 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This research evaluated risk of association of the SNPs, including genes for COX-2 (A/G transition at +202) and MMP-2 (C/T transition at-1306), with colorectal cancer in 125 patients and 125 healthy controls.
|
24998576 |
2014 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study investigated whether the MMP-2 -1306 C-->T polymorphism contributed to the development and progression of colorectal cancer in the Chinese population.
|
15485653 |
2004 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
No association was found with the MMP 1, 2, 3 or 9 polymorphisms with breast cancer, MMP-1, 3 or 9 with lung cancer or MMP-2, 3 or 9 with colorectal cancer.
|
19507256 |
2009 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the presence of -1575G allele in the MMP-2 promoter region may be of significance in the assessment of colorectal cancer risk and invasive potential.
|
17546628 |
2007 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the association between the risk for colorectal cancer and single nucleotide polymorphisms (SNP) of matrix metalloproteinase-2 (MMP2) -1306C/T, vascular endothelial growth factor (VEGF) 936C/T and hypoxia inducible factor-1α (HIF1A) 1772C/T.
|
21378341 |
2011 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of colorectal cancer in Hispanics.
|
27207650 |
2016 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that these MMP2, MMP7 and MMP9 promoter polymorphisms play a role as one of the key modulators of the risk of developing colorectal cancer in Kashmiri population.
|
27222481 |
2016 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MMP-1 promoter polymorphism seems to affect the susceptibility to CRC, while MMP-2, -3 and -9 polymorphisms appear less likely to have any impact on CRC.
|
16739355 |
2006 |
|
Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide association study of colorectal cancer in Hispanics.
|
27207650 |
2016 |
|
Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Association of matrix metalloproteinase-2 and -9 promoter polymorphisms with colorectal cancer in Chinese.
|
17546628 |
2007 |
|
Colorectal Neoplasms
|
0.700 |
GeneticVariation
|
group |
LHGDN |
A single nucleotide polymorphism in the matrix metalloproteinase-2 promoter is associated with colorectal cancer.
|
15485653 |
2004 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In this study, the possible association between MMP-9 and MMP-2 functional promoter polymorphism, stress, and inflammatory markers with development of severe cardiovascular disease (CVD), high blood pressure (HBP), and lupus nephropathy (LN) in SLE patients was investigated.
|
25416694 |
2015 |