Homocystinuria
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR gene.
|
12555939 |
2002 |
Homocystinuria
|
0.460 |
Biomarker
|
disease |
BEFREE |
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
|
9501215 |
1998 |
Homocystinuria
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
|
15714522 |
2005 |
Homocystinuria
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon.
|
25878036 |
2015 |
Homocystinuria
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
|
12971424 |
2003 |
Homocystinuria
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria.
|
17554763 |
2007 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer.
|
20549016 |
2010 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
This case-control study enrolled 105 new cases of CRC, 101 of colorectal adenoma (CRA), and 182 controls from hospitals in Bangkok, Thailand, to examine the association between folate status and methylenetetrahydrofolate reductase (MTHFR) 677C > T, methionine synthase (MTR) 2756A > G, and methionine synthase reductase (MTRR) 66A > G with the risk of CRC and CRA.
|
31740010 |
2019 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic.
|
21211571 |
2011 |
Colorectal Carcinoma
|
0.390 |
Biomarker
|
disease |
BEFREE |
The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer.
|
22719222 |
2012 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
MTRR rs1801394 and its interaction with MTHFR rs1801133 in colorectal cancer: a case-control study and meta-analysis.
|
28691890 |
2017 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
MTRR polymorphism interacted with the association of folate (P for interaction = 0.04) or vitamin (P for interaction = 0.02) with colorectal cancer, although the other polymorphisms did not interact with any nutrient intake.
|
16351505 |
2005 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The MTR and MTRR polymorphisms were unrelated to colorectal cancer risk.
|
24377513 |
2013 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Our pooled data suggest an association between MTRR A66G polymorphism and CRC susceptibility among Caucasians.
|
26214647 |
2015 |
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC).
|
12020105 |
2002 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The GG genotype of the rs3776455 SNP in the MTRR gene was associated with a significantly reduced risk to ALL (p = 1.21×10(-3); OR = 0.55), which resulted mainly from the reduced risk to B-cell and hyperdiploid-ALL.
|
23940529 |
2013 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric patients with ALL.
|
15797993 |
2005 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The increase in risk of adult ALL with the RFC1 80AA associated with the MTRR 66GG variant was even more significant (OR = 8.92; 95% CI 1.97-40.42).
|
21657963 |
2011 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
Biomarker
|
disease |
BEFREE |
We analysed common genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase (TS), methionine synthase (MS) and methionine synthase reductase (MTRR) in 68 children with ALL and 258 healthy controls to investigate their influence on the risk for ALL.
|
17454638 |
2007 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The MTHFR 677C>T SNP and the MTRR 66A >G SNP were identified as determinants of impaired BMD(TB) in childhood ALL patients.
|
20955826 |
2011 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
We conclude that abnormal MTRR mRNA expression and the methylation of the MTRR promoter can be used to classify the risk of ALL in children.
|
31002356 |
2019 |
Childhood Acute Lymphoblastic Leukemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
However, the results of stratified analyses revealed that MTRR A66G GG genotype was associated with decreased leukemia risk in the Caucasian population, in children and for acute lymphoblastic leukemia (ALL).
|
24261678 |
2014 |
Hyperhomocysteinemia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The association of variants of the gene encoding methionine synthase reductase (MTRR) with hyperhomocysteinemia, folate and Vitamin B(12) status in kidney graft recipients is unknown.
|
15135249 |
2004 |
Hyperhomocysteinemia
|
0.370 |
Biomarker
|
disease |
BEFREE |
Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia, a risk factor related to the occurrence of congenital heart defects (CHDs).
|
24913415 |
2014 |
Hyperhomocysteinemia
|
0.370 |
Biomarker
|
disease |
BEFREE |
Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of folate/cobalamin metabolism leading to hyperhomocysteinemia, hypo- methioninemia and megaloblastic anemia.
|
10484769 |
1999 |