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   1                                              MTHFR 1298A>C and RFC1 intron 5A>G polymorphisms were as
     2                                              MTHFR 677C>T genotype and folate status were generally n
     3                                              MTHFR and TYMS genotypes were determined on 365 HCC case
     4                                              MTHFR genotype was a determinant of vascular 5-MTHF (not
     5                                              MTHFR genotype was an independent predictor of plasma an
     6                                              MTHFR genotyping was performed to identify a C-->T mutat
     7                                              MTHFR is unusual among flavin oxidoreductases because it
     8                                              MTHFR null mutants (mthfr(-)) lacked 5-methyltetrahydrof
     9                                              MTHFR protein and mRNA were reduced in embryonic liver, 
    10                                              MTHFR protein levels were reduced in FASD pup livers, wi
    11                                              MTHFR TT was associated with lower folate concentrations
    12                                              MTHFR variants may be involved in SS non-MALT NHL develo
    13                                              MTHFR was not inhibited by S-adenosylmethionine and, uni
    14  (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF
    15  1.46; 95% CI, 1.26-1.68; P = 2.5 x 10(-7)), MTHFR C677T and gastric cancer (OR, 1.52; 95% CI, 1.31-1
  
    17 ctions to a variety of pharmacologic agents (MTHFR) and an immunological transcription factor (IRF1) 
    18 endelian randomisation the association among MTHFR C677T, homocysteine levels and WMH, approached, bu
  
  
    21 stent with epistatic effects of the COMT and MTHFR polymorphisms on prefrontal dopamine signaling, an
    22 tive synergistic effect between the CPS1 and MTHFR SNPs in the offspring (interaction P = 0.0046), th
  
    24  the brain results from OCM dysfunction, and MTHFR mutations such as Mthfr 677C-->T, common in human 
    25  blood cell folate, plasma homocysteine, and MTHFR 677C>T genotype and colonic tissue biopsies for me
    26 iations were found for IL2, CTLA4, HPSE, and MTHFR but were inconsistent with original publications. 
    27 ylation of only two studied genes, LTB4R and MTHFR, which were appreciably methylated even in control
  
    29  10(-8) and 4.09 x 10(-8), respectively) and MTHFR in the African ancestry sample (P=1.72 x 10(-6)). 
  
    31 upplementation among different age, sex, and MTHFR genotype groups are required to provide evidence f
  
    33 interactive effect of the MTHFR 677C-->T and MTHFR 1298A-->C polymorphisms on tHcy concentrations.   
  
  
  
    37 and replicated a SNP at LSP1/TNNT3, a SNP at MTHFR-NPPB independent (r(2) = 0.33) of previous reports
    38 late status modifies the association between MTHFR 677C-->T and stroke in a genetic analysis and meta
    39 e genetic studies of the association between MTHFR 677C-->T and stroke in low folate settings are nee
    40 tudies have examined the association between MTHFR C677T (a proxy for high homocysteine concentration
    41 there was no evidence of association between MTHFR C677T genotype and CHD risk (odds ratio [OR], 0.96
  
    43 There was no significant association between MTHFR genotype and CHD risk in large studies from region
    44     We investigated the associations between MTHFR 677C>T genotype, folate status, and DNA methylatio
    45   We found a significant interaction between MTHFR 677C-->T and MTRR 66A-->G on serum homocysteine co
  
  
  
    49 s; 5,068 cases, 7,876 controls) of the C677T MTHFR polymorphism and CRC, with stratification by racia
  
    51 rders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-c
  
  
    54 e potential links between maternal and child MTHFR polymorphisms and child neurodevelopment in a lead
  
    56 tructures of the Ala177Val mutant of E. coli MTHFR and of its complex with the 5,10-dideazafolate ana
  
    58 gh Phe223 contacts each substrate in E. coli MTHFR, this residue is not invariant; for example, a leu
  
    60  initial X-ray structure of Escherichia coli MTHFR revealed that this 33-kDa polypeptide is a (betaal
    61 lent Ala to Val mutation in Escherichia coli MTHFR, which is 30% identical to the catalytic domain of
    62  synthesis is highly sensitive to the common MTHFR C677T polymorphism and that the effect of the poly
    63 DNF, OXTR, RORA, GRM8, CHRNA4, IL-1A, CRHR1, MTHFR, DRD2, APOE) and loneliness were replicated (p>0.0
    64 Mexican American men (n = 60) with different MTHFR C677T genotypes (29 677TT, 31 677CC) consumed a di
  
  
    67 ymorphisms in key folate metabolism enzymes (MTHFR 677 C>T, MTHFR 1298 A>C, SHMT1 1420 C>T, MTR 2756 
  
    69 FR genetic variants had no effect, the fetal MTHFR 677TT genotype was associated with significantly l
    70 ia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participant
    71 , mutagenic lesions, we suggest that, as for MTHFR C677T, the GGH -124 T>G SNP may modulate the risk 
  
  
    74  ten primary glaucoma cases were studied for MTHFR C677T polymorphism and compared with 280 controls 
  
    76 ntly potentiated in platelets harvested from MTHFR++ carriers, and it was reversed by the inhibition 
  
  
    79 Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populat
  
    81 e methylene tetrahydrofolate reductase gene (MTHFR) appreciably increases homocysteine levels, so "Me
  
  
    84 ligand-free Phe223Leu and Phe223Leu/Glu28Gln MTHFR in complex with CH(3)-H(4)folate have been determi
    85  MTHFR deficiency, methionine, homocysteine, MTHFR enzyme activity in fibroblasts, or mutations (in t
    86 genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statis
    87 RD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53 and TPH1) showed nominally s
  
  
  
    91 pport the role of the A1298C polymorphism in MTHFR as prognostic marker in female patients with metas
  
  
  
    95 ydrofolate reductase (MTHFR) gene, including MTHFR C677T and A1298C, and common psychiatric disorders
  
  
  
    99 ealthy adults 18 to 65 years of age of known MTHFR 677C-->T genotype, we identified 35 with the homoz
  
  
   102 SH2B3/ATXN2, CSK, CYP17A1, FURIN, HFE, LSP1, MTHFR, SOX6) at array-wide significance (P < 2.4 x 10(-6
   103 ay, six of the 55 examined gene loci (LTB4R, MTHFR, CDH13, PGR, CDH1, and IGSF4) were significantly h
  
  
   106 tion (chi(2) = 8.82, p = 0.003) and maternal MTHFR 677C>T genotype with IGF2 methylation (chi(2) = 2.
   107 2) status, infant MTRR genotype and maternal MTHFR genotype, all of which may influence the supply of
   108 ed to plasma folate concentrations, maternal MTHFR genotype did not explain the association of folate
  
   110 variate-adjusted regression models, maternal MTHFR 677 genotype predicted MDI-24 scores, in which eac
  
   112 4 scores, in which each copy of the maternal MTHFR 677T variant allele was associated with lower MDI-
  
  
  
  
   117 choline between betaine and CDP-PC among NP (MTHFR rs1801133 and MTR rs1805087 WT) and lactating (MTH
   118 he frequency of the genotypes and alleles of MTHFR C677T differ significantly between cases and contr
  
   120 iod of follow-up, the inverse association of MTHFR with CVD mortality was significant only in the per
  
  
   123 The objective was to examine associations of MTHFR C677T, a proxy for high homocysteine concentration
   124 bjective: To investigate the associations of MTHFR polymorphisms and serum homocysteine levels with i
  
   126 dicates that the allele T and genotype CT of MTHFR C677T polymorphism are significantly associated wi
  
   128 authors assessed whether the distribution of MTHFR C677T genotypes was independent of potential confo
  
   130 vity genotype, each low-activity genotype of MTHFR was associated with a statistically nonsignificant
   131 measured confounders appeared independent of MTHFR genotype within the largest ethnically homogenous 
   132  mutant alleles in the 3 polymorphic loci of MTHFR/TYMS (range, 0-4), there was a monotonic decrease 
   133 s performed to explore a possible pathway of MTHFR polymorphisms via homocysteine levels to cortical 
  
  
   136 correlated with the phosphorylation state of MTHFR, with more severe mutations resulting in lower abu
  
   138 tivity nor the growth of mthfr(-) mutants or MTHFR overexpressors were differentially affected by ant
   139 ontrol participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one fami
   140 lenetetrahydrofolate reductase polymorphism (MTHFR 677C>T) may influence risk by modifying DNA methyl
  
   142 late intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, e
   143 s study supports the hypothesis that reduced MTHFR activity and enhanced TYMS activity, both of which
   144 est that high folic acid consumption reduces MTHFR protein and activity levels, creating a pseudo-MTH
   145 ant of methylenetetrahydro-folate reductase (MTHFR), rather than the AA variant, were less likely to 
   146 rphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with 
   147     The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural t
   148 n 1-CM, methylenetetrahydrofolate reductase (MTHFR) 677C>T, rs1801133, and phosphatidylethanolamineN-
   149 es 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C, methionine synthase reduc
   150 ypes in methylenetetrahydrofolate reductase (MTHFR) 677TT, thymidylate synthase (TSER) *2/*2 (variabl
   151 he 5,10-methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR) genes were ass
  
   153 m (SNP) methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) was used as proxy for homocyste
   154  of the methylenetetrahydrofolate reductase (MTHFR) C677T genotype on choline status was also examine
   155 he 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T genotype, a correlate of plasma homocystein
  
   157  severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adul
   158 he 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been associated with a lower risk of CRC
   159  in the methylenetetrahydrofolate reductase (MTHFR) gene increases the requirement for folate and may
   160     The methylenetetrahydrofolate reductase (MTHFR) gene is important for folate metabolism, and 2 co
   161 CBS) or methylenetetrahydrofolate reductase (MTHFR) gene lead to markedly elevated levels of circulat
  
   163 he 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, including MTHFR C677T and A1298C, and commo
   164 utative methylenetetrahydrofolate reductase (MTHFR) gene, which is down-regulated in bm2 mutant plant
  
   166     The methylenetetrahydrofolate reductase (MTHFR) genotype is associated with modification of disea
  
   168 isms of methylenetetrahydrofolate reductase (MTHFR) have been associated with diastolic blood pressur
   169 enzyme, methylenetetrahydrofolate reductase (MTHFR) in Mthfr(+/-) mice, exaggerated the ethanol effec
  
  
  
  
   174 rtance: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been shown to influence homocy
   175     The methylenetetrahydrofolate reductase (MTHFR) protein and methylation potential [ratio of S-ade
  
   177 bolism, methylenetetrahydrofolate reductase (MTHFR) rs1801133, methionine synthase (MTR) rs1805087 [w
   178 n human methylenetetrahydrofolate reductase (MTHFR) the Ala222Val (677C-->T) polymorphism encodes a h
  
   180 ncoding methylenetetrahydrofolate reductase (MTHFR) was responsive to supplementation with riboflavin
  
  
   183 enzyme, methylenetetrahydrofolate reductase (MTHFR), from 564 individuals of diverse ethnicities.    
   184  genes: methylenetetrahydrofolate reductase (MTHFR), reduced folate carrier 1 (RFC1), and glutamate c
   185 (MTRR), methylenetetrahydrofolate reductase (MTHFR), serine hydroxymethyltransferase (SHMT), and cyst
  
   187  in the methylenetetrahydrofolate reductase (MTHFR)gene was associated with the risk ofAEin both tria
  
   189 P 5,10-methylene tetrahydrofolate reductase (MTHFR) Ala222Val (dbSNP ID: rs1801133; P-value=1.27 x 10
   190 , 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T genotype, folate and vitamin B12 status, an
   191 of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is conten
   192  used the methyl tetrahydrofolate reductase (MTHFR) gene polymorphism 677C>T as a model of chronic ex
   193 of the methylene-tetrahydrofolate reductase (MTHFR) gene, an enzyme essential in DNA synthesis and me
   194 (GGH), methylene tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), proton-coupled folate
  
  
   197  (C677T methylenetetrahydrofolate reductase [MTHFR] and C1420T cytoplasmic serine hydroxymethyltransf
   198 thway (methylene tetrahydrofolate reductase; MTHFR:C677T), and the vitamin D pathway (vitamin D recep
  
  
  
  
  
  
  
   206 chomotor development in patients with severe MTHFR deficiency, highlighting the importance of timely 
   207 families with 2 or more patients with severe MTHFR deficiency, of whom at least 1 received betaine, o
  
  
  
  
   212 ey folate metabolism enzymes (MTHFR 677 C>T, MTHFR 1298 A>C, SHMT1 1420 C>T, MTR 2756 A>G, TS 1494del
   213 -2000), and genetic variation (MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, SHMT1 1420C>T, TYMS 1494del6
   214 ects and interactions of the MTHFR 677C-->T, MTHFR 1298A-->C, RFC1 80G-->A, and GCPII 1561C-->T polym
   215 hat manipulating tobacco (Nicotiana tabacum) MTHFR gene (NtMTHFR1) expression dramatically alters the
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
   231 ce of coronary artery disease (n = 331), the MTHFR CC genotype increased coronary artery disease risk
  
  
  
   235 eraction (P = 0.05) was observed between the MTHFR 677TT and RFC1 80GG genotypes, whereby persons wit
  
   237 ysis demonstrates an association between the MTHFR C677T variant and depression, schizophrenia, and b
   238 ations were not affected individually by the MTHFR 1298A-->C, RFC1 80G-->A, or GCPII 1561C-->T polymo
   239 tamins showed that individuals who carry the MTHFR 677TT_1298AA or 677CC_1298CC combination were sign
  
  
   242 ethnic group and other CVD risk factors, the MTHFR C677T TT genotype was associated with significantl
  
  
   245  stroke among individuals homozygous for the MTHFR T allele is close to that predicted from the diffe
  
   247 ctivity in fibroblasts, or mutations (in the MTHFR gene) had to be described as well as the effect of
  
   249 ment that identified genetic variants in the MTHFR-CLCN6-NPPA-NPPB cluster to be significantly associ
   250 leotide polymorphisms were identified in the MTHFR-CLCN6-NPPA-NPPB locus and were all replicated.    
  
  
  
   254 f this study was to assess the effect of the MTHFR 677C-->T polymorphism on the current folate RDA fo
  
   256 e individual effects and interactions of the MTHFR 677C-->T, MTHFR 1298A-->C, RFC1 80G-->A, and GCPII
  
   258 to determine the differential effects of the MTHFR C677T genotype and the effect of various choline i
  
  
   261 gest that the rs13306560 polymorphism of the MTHFR may be part of the observed hypertension process i
  
   263 s, and Mexican Americans irrespective of the MTHFR TT genotype, and, from a population perspective, t
   264 effect of the rs13306560 polymorphism on the MTHFR promoter region by means of luciferase reporter ge
   265  suggest that in schizophrenia patients, the MTHFR 677T allele exacerbates prefrontal dopamine defici
   266 ype, and, from a population perspective, the MTHFR 677C-->T variant does not warrant modifications to
   267 vo PtdCho biosynthesis and indicate that the MTHFR 677TT genotype favors the use of choline as a meth
   268  Computational simulations indicate that the MTHFR C677T polymorphism and folate deficiency interact 
  
   270 d analysis of all samples confirmed that the MTHFR variant was more strongly associated with Hcy in t
   271 entrations were significantly related to the MTHFR 677C-->T genotype but not to the other polymorphis
  
  
  
  
   276  tHcy concentrations than did those with the MTHFR 677CC genotype (P < 0.001), and this effect was gr
  
  
  
   280 riants (rs1801133 and rs13306560) within the MTHFR are associated with hypertension in Mexican-Mestiz
   281 pidemiologic studies demonstrated that these MTHFR polymorphisms were associated with cancer risk in 
  
  
  
  
  
  
   288 red to controls, individuals with one or two MTHFR 677T alleles were at 42% increased cancer risk (OR
  
   290 necticut, 1997-2000), and genetic variation (MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, SHMT1 1420C>T,
  
   292 e effects in the central nervous system were MTHFR 677TT (OR 3.3, P < 0.01) and SHMT1 1420CC (OR 2.4,
  
   294 d with reduced DNA methylation levels, while MTHFR c. 1298A > C AC genotype with reduced DNA double-s
  
  
   297 cysteine concentrations were associated with MTHFR genotype throughout the supplementation trial, reg
  
  
   300 homozygous wild-type individuals, those with MTHFR 677TT genotype were more likely to have MSI than m
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