|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
M6P/IGF2R allele loss was also found in cirrhotic tissue of clonal origin adjacent to these dysplastic lesions and HCCs, demonstrating that M6P/IGF2R inactivation occurs early in liver carcinogenesis.
|
9294214 |
1997 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
These results show M6P/IGF2R LOH predicts poor clinical outcomes in surgically resected primary HCC patients.
|
18322954 |
2008 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results show M6P/IGF2R LOH predicts poor clinical outcomes in surgically resected primary HCC patients.
|
18322954 |
2008 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The combination of IGF-2+3580 AA homozygosity and IGF-2R 1619 GG homozygosity presented a significant protective effect against HCC (OR=0.16,95% CI=0.08-0.34, P=0.005).
|
24656929 |
2014 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, M6P/IGF2R is mutated in HCCs from throughout Japan with a frequency similar to that in the United States.
|
11981765 |
2002 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The latter is homologous to the human M6P/IGF2r coding sequence which is mutated in human hepatocellular carcinoma.
|
10411141 |
1999 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, these M6P/IGF2R 3'UTR mutations and the TP53 mutations detected previously were mutually exclusive in most of the tumors, suggesting two independent pathways to HCC development, with the TP53 pathway being more favored with increasing radiation dose than the M6P/IGF2R pathway.
|
17149973 |
2006 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.
|
7493029 |
1995 |
|
Liver carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, it was reported in the United States that loss of heterozygosity (LOH) and mutations in exons 27, 28, and 31 of the M6P/IGF2R gene are frequent in hepatocellular carcinomas (HCCs) and adenomas.
|
10347113 |
1999 |
|
Parkinson Disease
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
While PD-linked point mutant Vps35 D620N interacts with the cation-independent mannose-6-phosphate receptor (CI-M6PR), a known retromer cargo, we find that its expression disrupts the trafficking of cathepsin D, a CI-M6PR ligand and protease responsible for degradation of α-synuclein, a causative agent of PD.
|
24152121 |
2014 |
|
Prostatic Neoplasms
|
0.320 |
GeneticVariation
|
group |
LHGDN |
Loss of heterozygosity of M6P/IGF2R gene is an early event in the development of prostate cancer.
|
16304558 |
2006 |
|
Fetal Growth Retardation
|
0.240 |
GeneticVariation
|
phenotype |
BEFREE |
The infant with IUGR has a higher serum level of IGF2 if has A/G IGF2-ApaI genotype and higher values of IGF2R if it has the A/A genotype.
|
28460554 |
2018 |
|
Coronary Artery Disease
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have sought to confirm that allelic loss of IGF2R is an early event in the aetiology of breast cancer by screening a group of 'early' lesions for LOH at a polymorphic microsatellite marker within the IGF2R gene using polymerase chain reaction (PCR).
|
9413941 |
1997 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings provide evidence that M6P/IGF2r allelic loss is an early event in the etiology of breast cancer, that this gene functions as a tumor suppressor gene in the breast.
|
8649861 |
1996 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide no evidence that missense SNPs in IGF2R influence breast cancer susceptibility
|
19435860 |
2009 |
|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to determine whether the Man-6-P/IGF-II receptor gene copy number is altered in breast cancer we analysed specimens of invasive breast carcinoma from 51 patients by Southern blotting.
|
8286193 |
1994 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These data indicate that M6P/IGF2R loss of function mutations may be involved in the pathogenesis of a wide spectrum of malignancies.
|
9516081 |
1998 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our findings support the hypothesis that being homozygous for the IGF2R c.5002 G>A modulates IGF2 circulating levels in a sex-specific manner, and while carrying the IGF2R c.901 C>G may increase cancer risk, the mechanism may not involve modulation of circulating IGF2.
|
22377707 |
2012 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
LOH at the M6P/IGF2R locus was detected in 15 of 57 (26%) informative tumors and was more frequent in malignant tumors (58%) than in benign and suspect tumors (9 and 13% respectively).
|
11182753 |
2001 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to determine if the M6P/IGF2R is mutated in lung cancer, a leading cause of cancer death worldwide.
|
10734317 |
2000 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
|
30604766 |
2019 |
|
Kidney Failure, Chronic
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
|
29545352 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors.
|
7753549 |
1995 |