|
MOYAMOYA DISEASE 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
|
25278557 |
2014 |
|
MOYAMOYA DISEASE 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MOYAMOYA DISEASE 2
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
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
|
|
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
|
|
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 |
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
|
|
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 |
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 |
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 |
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
|
|
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 |
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
|
|
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 p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
|
30001348 |
2018 |
|
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 |
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 |