rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
rs1801582
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
rs377591051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls.
|
31178336 |
2019 |
rs754604402
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical relevance of our findings is substantiated by the discovery of homozygous PARKIN (<i>PARK2</i>) p.S65N mutations in two unrelated patients with PD.
|
30404819 |
2018 |
rs34424986
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
|
29353703 |
2018 |
rs766948045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
|
29353703 |
2018 |
rs182893847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering the role of mitochondrial dysfunction in PD pathogenesis, our results imply a causative role for the M458L mutation in neurodegeneration.
|
29223129 |
2018 |
rs147757966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, Parkin with missense mutations associated with Parkinson disease (PD) in the UBL domain, such as K27N, R33Q, and A46P, did not translocate to the mitochondria and induce E3 ligase activity by m-chlorophenyl hydrazone treatment, which correlated with the interaction between the R1 domain and the UBL domain with those PD mutations.
|
26631732 |
2016 |
rs571092914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Linking a compound-heterozygous Parkin mutant (Q311R and A371T) to Parkinson's disease by using proteomic and molecular approaches.
|
25865804 |
2016 |
rs1330260959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the association of Y52C and M115I with the risk of PD, we conducted a case-control study in a cohort of PD and ethnically matched controls.
|
25029497 |
2014 |
rs1438259227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance.
|
24313877 |
2014 |
rs62637702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the rs62637702 polymorphism was associated with PD.
|
23275044 |
2013 |
rs1801582
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results indicate that co-occurrence of G/G V380L PARK2 and G/G rs2306604 TFAM on the prooxidative HV cluster background can contribute to PD risk.
|
22361577 |
2012 |
rs9347683
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients.
|
21176923 |
2011 |
rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
rs1801334
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
rs1438259227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance.
|
18704525 |
2008 |
rs72480422
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, the D280N variant was observed in three early onset PD-affected siblings and was not present in a 63-year-old unaffected sibling.
|
18514563 |
2009 |
rs9347683
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, homozygosity for the minor allele of rs9347683 may significantly reduce the age of onset of PD.
|
18387843 |
2009 |
rs199657839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD.
|
16793319 |
2006 |
rs368134308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD.
|
16793319 |
2006 |
rs778798543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD.
|
16793319 |
2006 |
rs34424986
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A total of two heterozygous mutations in exon 7 (R275W; 0.2%) were detected in the PD group, but none were found in controls.
|
16019250 |
2005 |
rs1801582
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD.
|
14639672 |
2003 |
rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We analysed Ser167Asn in 116 patients with sporadic PD and 124 controls, matched for age and gender.
|
12584415 |
2003 |