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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 Ala222Val (C677T; rs 1801133) polymorphism has rep
4 MTHFR and TYMS genotypes were determined on 365 HCC case
5 MTHFR genotype was a determinant of vascular 5-MTHF (not
6 MTHFR genotype was an independent predictor of plasma an
7 MTHFR genotyping was performed to identify a C-->T mutat
8 MTHFR protein and mRNA were reduced in embryonic liver,
9 MTHFR protein levels were reduced in FASD pup livers, wi
10 MTHFR TT was associated with lower folate concentrations
11 MTHFR variants may be involved in SS non-MALT NHL develo
12 (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF
13 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
14 ckin mutant lines that effectively abolished MTHFR phosphorylation and compared them with the parenta
16 ctions to a variety of pharmacologic agents (MTHFR) and an immunological transcription factor (IRF1)
17 were with a cluster of probes at the AGTRAP-MTHFR-NPPA/B gene locus on chromosome 1 (FDR = 1.3E-04),
18 endelian randomisation the association among MTHFR C677T, homocysteine levels and WMH, approached, bu
19 have further highlighted associations among MTHFR c.677C > T, tHcy, and aberrations in DNA methylati
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
23 the brain results from OCM dysfunction, and MTHFR mutations such as Mthfr 677C-->T, common in human
24 blood cell folate, plasma homocysteine, and MTHFR 677C>T genotype and colonic tissue biopsies for me
25 iations were found for IL2, CTLA4, HPSE, and MTHFR but were inconsistent with original publications.
26 ylation of only two studied genes, LTB4R and MTHFR, which were appreciably methylated even in control
28 10(-8) and 4.09 x 10(-8), respectively) and MTHFR in the African ancestry sample (P=1.72 x 10(-6)).
29 upplementation among different age, sex, and MTHFR genotype groups are required to provide evidence f
30 interactive effect of the MTHFR 677C-->T and MTHFR 1298A-->C polymorphisms on tHcy concentrations.
34 and replicated a SNP at LSP1/TNNT3, a SNP at MTHFR-NPPB independent (r(2) = 0.33) of previous reports
35 late status modifies the association between MTHFR 677C-->T and stroke in a genetic analysis and meta
36 e genetic studies of the association between MTHFR 677C-->T and stroke in low folate settings are nee
37 tudies have examined the association between MTHFR C677T (a proxy for high homocysteine concentration
38 there was no evidence of association between MTHFR C677T genotype and CHD risk (odds ratio [OR], 0.96
40 There was no significant association between MTHFR genotype and CHD risk in large studies from region
41 We investigated the associations between MTHFR 677C>T genotype, folate status, and DNA methylatio
42 We found a significant interaction between MTHFR 677C-->T and MTRR 66A-->G on serum homocysteine co
46 s; 5,068 cases, 7,876 controls) of the C677T MTHFR polymorphism and CRC, with stratification by racia
47 ypes of interest and identify the candidates MTHFR, C10orf32, CSK, NOV, ULK4, SDCCAG8, SCAMP5, RPP25,
49 rders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-c
52 e potential links between maternal and child MTHFR polymorphisms and child neurodevelopment in a lead
55 gh Phe223 contacts each substrate in E. coli MTHFR, this residue is not invariant; for example, a leu
57 lent Ala to Val mutation in Escherichia coli MTHFR, which is 30% identical to the catalytic domain of
58 synthesis is highly sensitive to the common MTHFR C677T polymorphism and that the effect of the poly
59 DNF, OXTR, RORA, GRM8, CHRNA4, IL-1A, CRHR1, MTHFR, DRD2, APOE) and loneliness were replicated (p>0.0
60 those with the 677TT genotype (50% decreased MTHFR activity) had both hyper- and hypomethylation in t
61 abolic studies revealed that the deregulated MTHFR cells undergo continuous transmethylation of homoc
62 Mexican American men (n = 60) with different MTHFR C677T genotypes (29 677TT, 31 677CC) consumed a di
64 ymorphisms in key folate metabolism enzymes (MTHFR 677 C>T, MTHFR 1298 A>C, SHMT1 1420 C>T, MTR 2756
66 FR genetic variants had no effect, the fetal MTHFR 677TT genotype was associated with significantly l
67 ia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participant
68 , mutagenic lesions, we suggest that, as for MTHFR C677T, the GGH -124 T>G SNP may modulate the risk
71 t to investigate the kinases responsible for MTHFR multisite phosphorylation and the physiological fu
73 ten primary glaucoma cases were studied for MTHFR C677T polymorphism and compared with 280 controls
74 ntly potentiated in platelets harvested from MTHFR++ carriers, and it was reversed by the inhibition
77 Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populat
79 e methylene tetrahydrofolate reductase gene (MTHFR) appreciably increases homocysteine levels, so "Me
80 MTHFR phosphorylation in cells, we generated MTHFR CRISPR knockin mutant lines that effectively aboli
82 ligand-free Phe223Leu and Phe223Leu/Glu28Gln MTHFR in complex with CH(3)-H(4)folate have been determi
83 MTHFR deficiency, methionine, homocysteine, MTHFR enzyme activity in fibroblasts, or mutations (in t
84 RD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53 and TPH1) showed nominally s
85 s demonstrated no significant differences in MTHFR Ala222Val genotype and allele distributions betwee
90 pport the role of the A1298C polymorphism in MTHFR as prognostic marker in female patients with metas
91 n that the common c.677C > T polymorphism in MTHFR influences global DNA methylation status through a
100 posity (APOA5, APOB, APOE, GCKR, IRS-1, LPL, MTHFR, PCSK9, PNPLA3, PPARgamma2), gene-exercise (APOA1,
101 SH2B3/ATXN2, CSK, CYP17A1, FURIN, HFE, LSP1, MTHFR, SOX6) at array-wide significance (P < 2.4 x 10(-6
102 ay, six of the 55 examined gene loci (LTB4R, MTHFR, CDH13, PGR, CDH1, and IGSF4) were significantly h
104 tion (chi(2) = 8.82, p = 0.003) and maternal MTHFR 677C>T genotype with IGF2 methylation (chi(2) = 2.
105 2) status, infant MTRR genotype and maternal MTHFR genotype, all of which may influence the supply of
106 ed to plasma folate concentrations, maternal MTHFR genotype did not explain the association of folate
108 variate-adjusted regression models, maternal MTHFR 677 genotype predicted MDI-24 scores, in which eac
110 4 scores, in which each copy of the maternal MTHFR 677T variant allele was associated with lower MDI-
114 choline between betaine and CDP-PC among NP (MTHFR rs1801133 and MTR rs1805087 WT) and lactating (MTH
115 h an interaction of tHcy and the activity of MTHFR enzyme on epigenetic regulation of the genome via
116 he frequency of the genotypes and alleles of MTHFR C677T differ significantly between cases and contr
118 iod of follow-up, the inverse association of MTHFR with CVD mortality was significant only in the per
121 The objective was to examine associations of MTHFR C677T, a proxy for high homocysteine concentration
122 bjective: To investigate the associations of MTHFR polymorphisms and serum homocysteine levels with i
124 dicates that the allele T and genotype CT of MTHFR C677T polymorphism are significantly associated wi
126 authors assessed whether the distribution of MTHFR C677T genotypes was independent of potential confo
129 ndividual samples, we examined the effect of MTHFR genotype ([Formula: see text] 677CC, [Formula: see
130 n vitro, the multiply phosphorylated form of MTHFR is more sensitive to allosteric inhibition by SAM.
133 vity genotype, each low-activity genotype of MTHFR was associated with a statistically nonsignificant
134 measured confounders appeared independent of MTHFR genotype within the largest ethnically homogenous
135 mutant alleles in the 3 polymorphic loci of MTHFR/TYMS (range, 0-4), there was a monotonic decrease
136 s performed to explore a possible pathway of MTHFR polymorphisms via homocysteine levels to cortical
139 correlated with the phosphorylation state of MTHFR, with more severe mutations resulting in lower abu
141 ontrol participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one fami
143 lenetetrahydrofolate reductase polymorphism (MTHFR 677C>T) may influence risk by modifying DNA methyl
145 late intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, e
146 s study supports the hypothesis that reduced MTHFR activity and enhanced TYMS activity, both of which
147 est that high folic acid consumption reduces MTHFR protein and activity levels, creating a pseudo-MTH
148 rphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with
149 The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural t
150 n 1-CM, methylenetetrahydrofolate reductase (MTHFR) 677C>T, rs1801133, and phosphatidylethanolamineN-
151 es 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C, methionine synthase reduc
152 ypes in methylenetetrahydrofolate reductase (MTHFR) 677TT, thymidylate synthase (TSER) *2/*2 (variabl
153 he 5,10-methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR) genes were ass
155 m (SNP) methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) was used as proxy for homocyste
156 of the methylenetetrahydrofolate reductase (MTHFR) C677T genotype on choline status was also examine
157 he 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T genotype, a correlate of plasma homocystein
160 severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adul
161 he 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been associated with a lower risk of CRC
162 in the methylenetetrahydrofolate reductase (MTHFR) gene increases the requirement for folate and may
163 The methylenetetrahydrofolate reductase (MTHFR) gene is important for folate metabolism, and 2 co
164 CBS) or methylenetetrahydrofolate reductase (MTHFR) gene lead to markedly elevated levels of circulat
165 utative methylenetetrahydrofolate reductase (MTHFR) gene, which is down-regulated in bm2 mutant plant
168 The methylenetetrahydrofolate reductase (MTHFR) genotype is associated with modification of disea
171 isms of methylenetetrahydrofolate reductase (MTHFR) have been associated with diastolic blood pressur
172 enzyme, methylenetetrahydrofolate reductase (MTHFR) in Mthfr(+/-) mice, exaggerated the ethanol effec
176 rtance: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been shown to influence homocy
177 The methylenetetrahydrofolate reductase (MTHFR) protein and methylation potential [ratio of S-ade
179 bolism, methylenetetrahydrofolate reductase (MTHFR) rs1801133, methionine synthase (MTR) rs1805087 [w
181 ncoding methylenetetrahydrofolate reductase (MTHFR) was responsive to supplementation with riboflavin
183 enzyme methylenetetrahydrofolate reductase (MTHFR), and epigenetic regulation of the genome via DNA
185 enzyme, methylenetetrahydrofolate reductase (MTHFR), from 564 individuals of diverse ethnicities.
186 genes: methylenetetrahydrofolate reductase (MTHFR), reduced folate carrier 1 (RFC1), and glutamate c
187 (MTRR), methylenetetrahydrofolate reductase (MTHFR), serine hydroxymethyltransferase (SHMT), and cyst
189 in the methylenetetrahydrofolate reductase (MTHFR)gene was associated with the risk ofAEin both tria
190 P 5,10-methylene tetrahydrofolate reductase (MTHFR) Ala222Val (dbSNP ID: rs1801133; P-value=1.27 x 10
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
201 7C>T (rs1801133), MTHFR 1298A>C (rs1801131), MTHFR 1793G>A (rs2274976), MTR 2756A>G (rs1805087), and
202 olate-related SNPs-MTHFR 677C>T (rs1801133), MTHFR 1298A>C (rs1801131), MTHFR 1793G>A (rs2274976), MT
207 chomotor development in patients with severe MTHFR deficiency, highlighting the importance of timely
208 families with 2 or more patients with severe MTHFR deficiency, of whom at least 1 received betaine, o
214 ey folate metabolism enzymes (MTHFR 677 C>T, MTHFR 1298 A>C, SHMT1 1420 C>T, MTR 2756 A>G, TS 1494del
215 -2000), and genetic variation (MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, SHMT1 1420C>T, TYMS 1494del6
216 hat manipulating tobacco (Nicotiana tabacum) MTHFR gene (NtMTHFR1) expression dramatically alters the
221 her logistic regression analysis showed that MTHFR Ala222Val genotype, psychopathological symptoms, n
234 eraction between plasma homocysteine and the MTHFR c.677C>T polymorphism is associated with site-spec
239 ysis demonstrates an association between the MTHFR C677T variant and depression, schizophrenia, and b
242 ethnic group and other CVD risk factors, the MTHFR C677T TT genotype was associated with significantl
245 , being ~12% higher in infants harboring the MTHFR A1298C (rs1801131) AC or CC genotypes and 10% lowe
248 ctivity in fibroblasts, or mutations (in the MTHFR gene) had to be described as well as the effect of
250 ment that identified genetic variants in the MTHFR-CLCN6-NPPA-NPPB cluster to be significantly associ
251 leotide polymorphisms were identified in the MTHFR-CLCN6-NPPA-NPPB locus and were all replicated.
256 f this study was to assess the effect of the MTHFR 677C-->T polymorphism on the current folate RDA fo
258 toms of SCZ and compare the frequency of the MTHFR Ala222Val genotype in both suicide attempters and
260 to determine the differential effects of the MTHFR C677T genotype and the effect of various choline i
263 gest that the rs13306560 polymorphism of the MTHFR may be part of the observed hypertension process i
265 s, and Mexican Americans irrespective of the MTHFR TT genotype, and, from a population perspective, t
266 effect of the rs13306560 polymorphism on the MTHFR promoter region by means of luciferase reporter ge
267 suggest that in schizophrenia patients, the MTHFR 677T allele exacerbates prefrontal dopamine defici
268 ype, and, from a population perspective, the MTHFR 677C-->T variant does not warrant modifications to
269 vo PtdCho biosynthesis and indicate that the MTHFR 677TT genotype favors the use of choline as a meth
270 Computational simulations indicate that the MTHFR C677T polymorphism and folate deficiency interact
272 d analysis of all samples confirmed that the MTHFR variant was more strongly associated with Hcy in t
273 entrations were significantly related to the MTHFR 677C-->T genotype but not to the other polymorphis
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,
293 d with reduced DNA methylation levels, while MTHFR c. 1298A > C AC genotype with reduced DNA double-s
295 cysteine concentrations were associated with MTHFR genotype throughout the supplementation trial, reg
299 homozygous wild-type individuals, those with MTHFR 677TT genotype were more likely to have MSI than m
300 tretch within the regulatory region of yeast MTHFR to create a series of feedback-insensitive, deregu