Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our case-control study and meta-analysis both provide evidence of an association between the rs112735431(c.14576G>A) polymorphism in the RNF213 gene and MMD risk.
|
27515544 |
2016 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature.
|
28063898 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These cases highlight the effectiveness of indirect revascularization for moyamoya disease patients with the homozygous p.R4810K variant.
|
31290353 |
2019 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations.
|
28931766 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains.
|
28635953 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because of a family history of Moyamoya disease (MMD), genetic analysis was performed, and revealed that this patient was homozygous for RNF213 p.Arg4810Lys.
|
28962888 |
2018 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The ischemic type MMD is particularly related to the R4810K mutation.
|
23110205 |
2012 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of M</span>MD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).
|
23769926 |
2013 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our meta-analysis strengthens RNF213 rs112735431 is closely associated with the increased risk of MMD in Japanese, and the screening combined with rs112735431 and rs138130613may improve the detection rate for MMD in China.
|
26847828 |
2016 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD.
|
26590131 |
2015 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, c.14</span>429G>A</span> (p.R</span</span>>4810K</span>) genotypes occurred more frequently in patients with a family history of MMD.
|
26430847 |
2016 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Further studies are needed to clarify the relationship between the rs112735431 polymorphism of the RNF213 and hypertension in patients with MMD.
|
28320162 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease.
|
28414759 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently.
|
29165136 |
2017 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10(-119)).
|
21799892 |
2011 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and MMD.
|
23466837 |
2016 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two linkage disequilibrium blocks were constructed for moyamoya patients with p.R4810K (n = 140) and the general population (n = 384) using 39 single nucleotide polymorphisms (SNPs) spanning 390 kb around RNF213.
|
22878964 |
2013 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two MMD-associated rare variants (p.R4810K and p.A4399T) in RNF213 were identified in two patients, three BMPR2 mutations (p.Q92H, p.L198Rfs*4, and p.S930X) were found in three patients, whereas no CAV1 mutations were identified.
|
29718794 |
2019 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations.
|
31650369 |
2019 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 p.R4810K was associated with MMD, ICASO, and quasi-MMD in different genetic models.
|
29752070 |
2018 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report.
|
29567577 |
2018 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
|
23994138 |
2013 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
On the other hand, a common missense mutation [NM_001256071.2:c.14429G>A (p.Arg4810Lys)] related to MMD in exon 60 of RNF213 was also identified by Sanger sequencing.
|
31347299 |
2019 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many non-p.R</span>4810K</span> rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population.
|
27736983 |
2016 |
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies have shown that a proportion of East Asian (EAS) patients with MMS possess the p.R4810K variant of RNF213 (rs112735431), the foremost susceptibility variant among EAS patients with MMD.
|
30922903 |
2019 |