|
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 |
GeneticVariation
|
disease |
UNIPROT |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
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 |
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 |
|
|
|
|
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 |
|
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 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Despite the extensive polymorphism at the merozoite surface protein-1 (MSP-1) locus of Plasmodium falciparum, that encodes a major repetitive malaria vaccine candidate antigen, identical and nearly identical alleles frequently occur in sympatric parasites.
|
12941155 |
2003 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The type of msp-1 allele detected was significantly associated with the clinical category of malaria.
|
16023985 |
2005 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine the genetic diversity of Plasmodium falciparum by analyzing the polymorphism of the msp-1 and msp-2 genes and the multiplicity of infection in children with uncomplicated malaria in southern Benin.
|
24135216 |
2013 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The present study examined the extension and immunological relevance of the allelic polymorphism of the MSP1(19) from Plasmodium vivax, a major human malaria parasite.
|
10449807 |
1999 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In an epidemiological study in an area holoendemic for malaria in Ghana, the prevalence and multiplicity of P. falciparum infections (MOI) were assessed in 1069 three month-old infants by typing of the genes encoding the merozoite surface proteins 1 and 2 (msp-1, msp-2) over a recruitment period of one year.
|
16640613 |
2006 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have examined here the allelic diversity of P. falciparum and attempted to understand the polymorphism and distribution of alleles of MSP1 with transition in transmission season and with differences in malaria epidemiology between sites.
|
19454325 |
2009 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The predominant MSP1 allelic families were MAD20 for uncomplicated malaria and RO33 for severe malaria.
|
27350250 |
2016 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nevertheless, Gambian children who had been vaccinated with SPf66 and who were parasitaemic at the end of the first malaria transmission season after vaccination had significantly fewer detectable P. falciparum genotypes than control children, as determined by polymerase chain reaction analysis of 3 polymorphic loci--the msp1 block 2 repeat region, the msp2 repeat region, and the R11 region of the glutamate-rich protein gene (glurp).
|
10450429 |
1999 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Herein we investigate the frequency of recombination-driven allelic diversity and temporal variation of msp1 in Rufiji, eastern coastal Tanzania, where malaria transmission is intense.
|
17556608 |
2007 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic characterization of the P. falciparum isolate obtained by analysis of msp1 and msp2 amplicons revealed the coexistence of two genotypes causing the first malaria episode and the presence of a unique isolate responsible for the recurrence.
|
15528762 |
2004 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequencies of 14 MSP-1(19) haplotypes were compared over the course of the malaria transmission season for all three years, in three age groups, and in consecutive infections within individuals.
|
17355170 |
2007 |
|
Malaria
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since P. vivax accounts for >50% of malaria cases in India and in Colombia, it is essential to know the Pvmsp-1 gene variability in these two countries to sustain it as a vaccine candidate.
|
15003129 |
2004 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of the CYP1A1 Msp1 site-present allele, which was previously found to be associated with Japanese lung cancer risk, was statistically increased in African compared to Caucasian Americans (odds ratio, 2.9; 95% confidence interval, 1.2-2.7).
|
8220094 |
1993 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There was a marginally significant association between lung cancer and GSTT1 null genotype (OR=1.2; 95% CI:1.0-1.6), and a significant association between lung cancer and the homozygous CYP1A1 Msp1 variant allele (CYP1A1*2A and *2B) genotype (OR=4.7 95% CI:1.2-19.0).
|
12690010 |
2003 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found no increase in the risk of lung cancer for CYP1A1 Msp I genotypes.
|
12925969 |
2003 |