|
MOYAMOYA DISEASE 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MOYAMOYA DISEASE 2
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
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 1
|
|
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 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The ischemic type MMD is particularly related to the R4810K mutation.
|
23110205 |
2012 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The ischemic type MMD is particularly related to the R4810K mutation.
|
23110205 |
2012 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The coding variant p.R4810K in RNF213 was strongly associated with moyamoya disease in the Japanese (odds ratio: 338.94, p = 1.05 × 10(-100)) and Korean (odds ratio: 135.63, p = 7.59 × 10(-27)) populations, and much less strongly associated in the Chinese population (odds ratio: 14.70, p = 2.63 × 10(-5)).
|
22688066 |
2012 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The coding variant p.R4810K in RNF213 was strongly associated with moyamoya disease in the Japanese (odds ratio: 338.94, p = 1.05 × 10(-100)) and Korean (odds ratio: 135.63, p = 7.59 × 10(-27)) populations, and much less strongly associated in the Chinese population (odds ratio: 14.70, p = 2.63 × 10(-5)).
|
22688066 |
2012 |
|
Moyamoya disease 1
|
|
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 |
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 1
|
|
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 |
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 |
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
|
23994138 |
2013 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD.
|
23850618 |
2013 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD.
|
23850618 |
2013 |
|
MOYAMOYA DISEASE 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
|
25278557 |
2014 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results confirm that alterations in RNF213 predispose patients of diverse ethnicities to MMD, and that the p.R4810K variant predisposes individuals of Asian descent in the United States to MMD.
|
25278557 |
2014 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results confirm that alterations in RNF213 predispose patients of diverse ethnicities to MMD, and that the p.R4810K variant predisposes individuals of Asian descent in the United States to MMD.
|
25278557 |
2014 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Sixteen of 46 variants were polymorphisms with minor allele frequency >1%, and, after conditioning on the p.R4810K genotype, were not associated with MMD.
|
25964206 |
2015 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
|
26126547 |
2015 |
|
Moyamoya disease 1
|
|
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 |
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 |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
|
26126547 |
2015 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Sixteen of 46 variants were polymorphisms with minor allele frequency >1%, and, after conditioning on the p.R4810K genotype, were not associated with MMD.
|
25964206 |
2015 |