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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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