|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Investigation of MTHFR gene C677T polymorphism in cardiac syndrome X patients.
|
28481466 |
2018 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings establish the association between the C677Tmutation, endothelial cell dysfunction and cardiac syndrome X, and provide a novel and simple therapy for a subset of patients with syndrome X and homozygosity for the C677T mutation.
|
17491230 |
2007 |
|
rs1057519902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs1174235669
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs121912656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs121912659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs1553260624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs28934575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs1799983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant difference was observed in genotype distribution of G894T and T786C polymorphism between patients with CSX and controls.
|
19907345 |
2010 |
|
rs755603793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a significant association between PON1 A632G polymorphism and MVA as well as VSA, but the impact of this on VSA and MVA is different in the Japanese.
|
16308493 |
2005 |
|
rs4994
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Trp64Arg mutation of the beta 3-adrenergic receptor (beta 3AR) is prevalent in several ethnic groups and is associated with weight gain, and some features of syndrome X such as insulin resistance and dyslipidaemia.
|
9112025 |
1997 |