|
Spina Bifida
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population.
|
22647835 |
2012 |
|
Spina Bifida
|
0.320 |
GeneticVariation
|
disease |
LHGDN |
Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida.
|
16256389 |
2006 |
|
Spina Bifida
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida.
|
16256389 |
2006 |
|
Epilepsy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mice with a knockout of the gene (Pcmt1) for this enzyme (KO, -/-) exhibit a pronounced neuropathology with fatal epileptic seizures at 30-60 days.
|
25465735 |
2015 |
|
Epileptic Seizures
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
Mice with a knockout of the gene (Pcmt1) for this enzyme (KO, -/-) exhibit a pronounced neuropathology with fatal epileptic seizures at 30-60 days.
|
25465735 |
2015 |
|
Neural Tube Defects
|
0.020 |
GeneticVariation
|
group |
BEFREE |
We hypothesized that a known functional polymorphism (Ile120Val) in the human PCMT1 gene is associated with an increased risk of folate-responsive human NTDs.
|
16256389 |
2006 |
|
Neural Tube Defects
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
|
22647835 |
2012 |
|
Anencephaly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Although the significance was lost after multiple comparison correction, the results implied that maternal polymorphisms in PCMT1 might be a potential genetic risk factor for isolated anencephaly in this Chinese population.
|
22647835 |
2012 |
|
Premature Menopause
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We found that four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF).
|
18582870 |
2009 |
|
Ovarian Failure, Premature
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We found that four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF).
|
18582870 |
2009 |
|
Cardiomyopathies
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Furthermore, cardiac-specific deletion of PIMT in adult mice, using tamoxifen-inducible Cre-approach (TmcsPIMT<sup>-/-</sup>), results in the development of cardiomyopathy.
|
29772707 |
2018 |
|
Spina Bifida
|
0.320 |
Biomarker
|
disease |
CTD_human |
Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida.
|
16256389 |
2006 |
|
Status Dysraphicus
|
0.300 |
Biomarker
|
disease |
CTD_human |
A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.
|
16256389 |
2006 |
|
Rachischisis
|
0.300 |
Biomarker
|
disease |
CTD_human |
A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.
|
16256389 |
2006 |
|
Glioma
|
0.200 |
Biomarker
|
disease |
RGD |
Expression and activity of l-isoaspartyl methyltransferase decrease in stage progression of human astrocytic tumors.
|
15857672 |
2005 |
|
Malignant Glioma
|
0.200 |
Biomarker
|
disease |
RGD |
Expression and activity of l-isoaspartyl methyltransferase decrease in stage progression of human astrocytic tumors.
|
15857672 |
2005 |
|
Epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Pcmt1 knock-out mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure.
|
28100787 |
2017 |
|
Epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Pcmt1 knockout mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure.
|
29856810 |
2018 |
|
Epileptic Seizures
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Pcmt1 knockout mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure.
|
29856810 |
2018 |
|
Epileptic Seizures
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Pcmt1 knock-out mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure.
|
28100787 |
2017 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The role of protein l-isoaspartate (d-aspartate) O-methyltransferase (PCMT1) in human cancer was generally cognized.
|
29517839 |
2018 |
|
Diabetes
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results support a role for post-translational modifications and PIMT in the development of type 1 diabetes in the diabetes-prone BB rat, and perhaps also in humans.
|
17216280 |
2007 |
|
Diabetes Mellitus
|
0.010 |
Biomarker
|
group |
BEFREE |
The results support a role for post-translational modifications and PIMT in the development of type 1 diabetes in the diabetes-prone BB rat, and perhaps also in humans.
|
17216280 |
2007 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.010 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to assess the role of PIMT in the development of type 1 diabetes.
|
17216280 |
2007 |
|
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, cumulative evidence suggests that PIMT functions in cardiac energy metabolism by interacting with nuclear receptor coactivators and this property could be useful in the management of heart failure.
|
29772707 |
2018 |