rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S mutation frequency is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of PD in Southern Italy.
|
18621566 |
2009 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A common p.G2019S mutation (rs34637584:A>G) is responsible for up to 30-40% of PD cases in some ethnic populations.
|
21850687 |
2011 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both.
|
25347348 |
2014 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In summary, our footprint-free LRRK2-G2019S isogenic cell lines allow standardized, genetic background independent, in vitro PD modeling and provide new insights into the role of LRRK2-G2019S and S129P-αS in the pathogenesis of PD.
|
28826027 |
2017 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
|
16511860 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
|
18805725 |
2009 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
|
17440812 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Modeling G2019S-LRRK2 Sporadic Parkinson's Disease in 3D Midbrain Organoids.
|
30799274 |
2019 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
|
17353388 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance.
|
17596714 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No G2019S mutations were found in both patients with sporadic PD and controls.
|
24863511 |
2014 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease.
|
16280683 |
2005 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients.
|
17938369 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest that mutant (G2019S) LRRK2 activates MKK4-JNK-c-Jun pathway in the SN and causes the resulting degeneration of SNpc dopaminergic neurons in PD transgenic mice.
|
22539006 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population.
|
17614198 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD).
|
28251720 |
2017 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
That the most prevalent mutation, G2019S, leads to increased kinase activity has led to a concerted effort to identify LRRK2 kinase inhibitors as a potential disease-modifying therapy for PD.
|
26407721 |
2015 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease.
|
16966501 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD).
|
16966502 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domain called the activation segment.
|
17584768 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.
|
17880562 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S mutation in the LRRK2 gene is quite common in Egyptian patients with sporadic PD.
|
21699405 |
2011 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157).
|
17044089 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease.
|
19945904 |
2010 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations.
|
16102903 |
2005 |