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 |
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 |
rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We analysed Ser167Asn in 116 patients with sporadic PD and 124 controls, matched for age and gender.
|
12584415 |
2003 |
rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To study the potential involvement of the parkin gene in development of non-hereditary idiopathic PD, a codon 167 serine/asparagine (167S/N) polymorphism located in its exon 4 was analyzed by direct sequencing in 71 patients with sporadic PD and 109 age-matched non-PD controls.
|
10511432 |
1999 |
rs1801474
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
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 |
rs1801582
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD.
|
14639672 |
2003 |
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 |
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 |
rs1438259227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance.
|
18704525 |
2008 |
rs1801334
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
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 |
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 |
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 |
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 |
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 |
rs1258359845
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
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 |
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 |
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 |
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 |
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 |
rs56092260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD.
|
10965160 |
2000 |
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 |