|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
|
29390050 |
2018 |
|
HYPEREKPLEXIA 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
|
29659736 |
2018 |
|
HYPEREKPLEXIA 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
|
29390050 |
2018 |
|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
HYPEREKPLEXIA 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
HYPEREKPLEXIA 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
A great number of studies have shown that cytochrome P450 1A1 (CYP1A1) genetic polymorphisms, CYP1A1 Msp I and CYP1A1 Ile/Val, might be risk factors for digestive tract cancers, including esophageal cancer (EC), gastric cancer (GC), hepatic carcinoma (HC), as well as colorectal cancer (CC), but the results are controversial.
|
24969905 |
2014 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years.
|
18768509 |
2008 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
A positive association between development of colorectal cancer and the mutant homozygous genotype in Msp1 polymorphism of CYP1A1 gene has been reported in Japanese in Hawaii.
|
11059519 |
2000 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The protective effect of the 16 bp duplication was more pronounced in haplotype combinations with the BstU I A1 and Msp I A1 alleles, whereas these alleles in combination with the 16 bp A1 allele (no duplication) were associated with an increased risk for colorectal cancer.
|
7614678 |
1995 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Hereditary Hyperexplexia
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
|
29390050 |
2018 |
|
Encephalopathies
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Taken together, our molecular and functional analyses identify an activating ATAD1 mutation as a new cause of severe encephalopathy and congenital stiffness.
|
29390050 |
2018 |
|
Encephalopathies
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
Samples were analysed using bead-based multiplex assays for IgG antibodies for six Plasmodium antigens: four human malaria species-specific merozoite surface protein-1 19kD antigens (MSP-1) and Apical Membrane Antigen-1 (AMA-1) for Plasmodium falciparum and Plasmodium vivax.
|
31331340 |
2019 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
However infants from CAIG (n = 53) had significantly higher AMA1-, MSP2-FC27-, MSP3-specific IgG1 and AMA1-, MSP1-, MSP2-FC27-, MSP3 and GLURP-R2-specific IgG3 than those from NCIG (n = 183).
|
31185998 |
2019 |
|
Malaria
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Antibody levels against MSP1 19kD, MSP2, schizont extract, and IE variant surface antigens were significantly higher in children who had documented episodes of malaria than in children who did not.
|
30658632 |
2019 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
The merozoite surface protein-1 (MSP-1) gene encodes for a leading malaria vaccine candidate antigen.
|
30518419 |
2018 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
N-terminal of MSP-1 gene were amplified from 126 clinical samples collected from imported cases of malaria in migrant workers returning to Jiangsu Province from Africa using a conventional polymerase chain reaction (PCR) assay.
|
30446012 |
2018 |
|
Tumor Cell Invasion
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Plasmodium merozoite surface protein-1 (MSP-1) is released into the bloodstream during merozoite invasion, and thus represents a crucial malarial vaccine target.
|
30446012 |
2018 |
|
Tumor Cell Invasion
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
MSP-7 forms complex with MSP-1 prior to merozoite egress from erythrocytes, and could affect merozoite invasion of erythrocytes.
|
29718980 |
2018 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have developed an experimental vaccine candidate (PyCMP) based on pre-erythrocytic (CSP) and erythrocytic (MSP1) stage antigens derived from the rodent malaria parasite P. yoelii.
|
28483199 |
2017 |
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data suggest that MSP-1, especially the partially conserved subunit MSP-1<sub>83</sub>, is a major target of opsonizing antibodies acquired during natural exposure to malaria.
|
28877929 |
2017 |