SNP information rs421016

Research and publications:

  1437405   Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

  1594045   An animal model of Gaucher disease resulting from targeted destruction of the mouse glucocerebrosidase gene.

  1899336   Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.

  1972019   Sequence of two alleles responsible for Gaucher disease.

  2309702   Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.

  2349952   Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

  2378352   Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

  2464926   Characterization of mutations in Gaucher patients by cDNA cloning.

  2569551   Prediction of Gaucher disease severity by identifying mutations at the DNA level.

  2880291   Mutation of the human glucocerebrosidase gene in neuropathic Gaucher disease.

  7857677   Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

  8118460   Mutations causing Gaucher disease.

  8929950   The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

  10685993   Type 2 Gaucher disease: the collodion baby phenotype revisited.

  10796875   Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

  17620502   Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.

  18022370   LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

  18332251   Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.

  18541817   The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.

  19286695   Glucocerebrosidase mutations in clinically and pathologically proven Parkinson's disease.

  20301446   Gaucher Disease.

  22713811   A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

  23448517   The L444P GBA mutation is associated with early onset Parkinson's disease in Mexican mestizos.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  24904648   In silico identification of genetic variants of the glucocerebrosidase (GBA) gene involved in Gaucher disease using multiple software tools.

  25333069   Disease variants in genomes of 44 centenarians.

  25933391   Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

  27094865   Resequencing analysis of five Mendelian genes and top genes from genome-wide association studies in Parkinson's disease.

  27255555   Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.

  27299523   To study the influence of genetic variants on clinical profiles of Parkinson's disease assessed by the Unified Parkinson's Disease Rating Scale and Hoehn-Yahr stage.

  30985853   Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

  31292011   Systematic review of genetic variants associated with cognitive impairment and depressive symptoms in Parkinson's disease.

  32618053   Large-scale comprehensive screening of the GBA1 gene in Parkinson's disease in the Netherlands.

  32714263   Association between glucocerebrosidase mutations and Parkinson's disease in Ireland.

  33147747   Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

  33402667   A suspected second hit of rare genetic variants in families with Parkinson's disease thought to be associated with GBA.

  34109443   An attempt to isolate a peripheral marker based on cellular pathology in Parkinson's disease.

  34288589   Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

  34380910   Mutations in GBA, SNCA and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.