|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant.
|
31806452 |
2020 |
|
Moyamoya disease 1
|
|
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 1
|
|
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 |
|
Moyamoya disease 1
|
|
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 1
|
|
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 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 p.R4810K was associated with MMD, ICASO, and quasi-MMD in different genetic models.
|
29752070 |
2018 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
|
30001348 |
2018 |
|
Moyamoya disease 1
|
|
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 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The variant was ring finger protein 213 (RNF213) c.14576G>A (rs112735431), which was originally identified as a susceptibility genetic variant for moyamoya disease (MMD).
|
28797616 |
2017 |
|
Moyamoya disease 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genotyping of the p.R4810K missense variant is useful for identifying individuals with an elevated risk for steno-occlusive intracranial arterial diseases in the family members of patients with moyamoya disease.
|
28506590 |
2017 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with MMD among the 30 RNF213 variants listed in the HGMD.
|
28617845 |
2017 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested.
|
28414759 |
2017 |
|
Moyamoya disease 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Significantly higher frequencies of the A allele and G/A genotype of p.R4810K</span> were observed in MMD patients compared with controls (χ<sup>2</sup> = 104.166, p < 0.000).
|
27128593 |
2017 |
|
Moyamoya disease 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of p.R4810K carriers was significantly higher in quasi-moyamoya disease cases than in controls (66.7% versus 2.2%, odds ratio 89.0, 95% confidence interval: 19.2-669.4).
|
27476341 |
2016 |
|
Moyamoya disease 1
|
|
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 1
|
|
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 1
|
|
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 1
|
|
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 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
|
27365075 |
2016 |