rs421016
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India.
|
30764785 |
2019 |
rs421016
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele.
|
31613991 |
2019 |
rs421016
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Our results suggest that GBA deficiency due to L444P GBA heterozygous mutation and the accompanying accumulation of α-synuclein render DA neurons more susceptible to MPTP intoxication.
|
29310663 |
2018 |
rs421016
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
|
30285649 |
2018 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.
|
29527153 |
2018 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
|
26905200 |
2016 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
|
26868973 |
2016 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
|
26096741 |
2015 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Differential effects of severe vs mild GBA mutations on Parkinson disease.
|
25653295 |
2015 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
|
25456120 |
2014 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
|
24756352 |
2014 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
|
22592100 |
2012 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
|
22451204 |
2012 |
rs421016
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
|
21113739 |
2011 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
|
21113739 |
2011 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
BEFREE |
All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele.
|
20177787 |
2010 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers.
|
19260119 |
2009 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
|
19846850 |
2009 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
|
18338393 |
2008 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
rs76763715
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Genetic and clinical features of patients with Gaucher disease in Hungary.
|
17395504 |
2007 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
|
15146461 |
2004 |