Property Summary

NCBI Gene PubMed Count 162
PubMed Score 92.50
PubTator Score 217.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 1.600 5.9e-06
psoriasis 1.600 5.0e-04
osteosarcoma -3.652 2.1e-10
medulloblastoma, large-cell -1.100 6.1e-04
tuberculosis 1.300 7.8e-07
intraductal papillary-mucinous neoplasm ... 1.200 1.5e-03
colon cancer 2.500 9.0e-08
active Crohn's disease -1.144 2.9e-03
active ulcerative colitis -1.330 3.7e-03
adult high grade glioma -1.300 4.2e-04
sonic hedgehog group medulloblastoma 1.400 2.0e-04
Breast cancer 1.400 1.8e-14
ovarian cancer 1.400 7.9e-07

Protein-protein Interaction (1)

Gene RIF (154)

PMID Text
26193446 We conclude that SLC46A1/PCFT and SLC19A1/RFC-1 are associated with DFS of patients with colorectal cancer and hypothesize that poor response to 5-fluorouracil plus leucovorin therapy in some patients may be linked to low expression of these genes.
25860940 SLC19A1 expression was associated with increased risk of relapse or death, and SLC19A1 expression retained prognostic significance independent of age, disease stage and MYCN amplification.
25659099 the RFC-1 -43C>T, 80A>G, and 696T>C polymorphisms may be risk factors for ischemic stroke.
25124723 SLC19A1 genotype may help to identify patients with increased risk of methotrexate-related toxicity.
25078587 The reduced RFC mRNA expression in paclitaxel-resistant osteosarcoma cells may be related to the decrease in intracellular methotrexate concentration.
25074866 Results suggest that genetic polymorphisms in MDR1 and RCF1 the toxicity but not the response of methotrexate treatment.
24995314 Present results do not support a role for the RFC-1 c.80G>A polymorphism as independent risk factor for sporadic AD in Italian Caucasians
24927955 SLC19A1 rs1051296 G>T, a miRNA binding site polymorphism, was associated with increased plasma methotrexate concentrations in Chinese children with acute lymphoblastic leukemia.
24917213 SLC19A1 rs1051266 GG/GA genotype is associated with first trimester fever.
24782176 RFC1 80G>A is a genetic determinant of methotrexate efficacy in rheumatoid arthritis.
24749799 Our findings support the hypothesis that RFC1 A80G variant may contribute to non-syndromic cleft lip and palate susceptibility in a south Indian population.
24554143 No direct association was found between variant (G) allele or genotype of rs1051266 with Alzheimer disease and vascular dementia cases. Gene polymorphism was not associated with serum folate level.
24396145 The molecular bases for methotrexate resistance associated with loss of SLC19A1 transport and for hereditary folate malabsorption, attributable to mutant SLC46A1, were determined (review).
24367687 The minor allele of SLC19A1 rs1051266 (OR = 2.07; 95% CI: 1.25-3.46) is positively associated with childhood acute lymphoblastic leukemia.
24350725 SLC19A1 80G carriers had increased risk of gastrointestinal toxicity.
24237708 A significant association was detected between the MTHFR A1298C/ RFC G80A genotype and a nonpredisposition to acute lymphoblastic leukemia.
24100087 TS and RFC1 polymorphisms are associated with colorectal cancer prognosis in Korean patients.
23986219 A review of the influences of genetic polymorphisms in reduced folate carrier on the occurrence of adverse effects from methotrexate therapy.
23838799 Data suggest that methylenetetrahydrofolate reductase (NAD(P)H), dihydrofolate reductase, thymidylate synthetase and SLC19A1 genes present increased expression after the highest dose of methotrexate in laryngeal cancer cell line.
23669721 even though the SLC19A1 80AA genotype may be related to moderate, although significantly, higher methotrexate (MTX) levels during high dose MTX therapy, this gene variant does not predict extremely delayed MTX elimination.
23656756 SLC19A1 SNP had a statistically significant association with HDL plasma levels.
23385809 While MTHFR 677T and SLC19A1 80G are individually and cumulatively risk factors for nonsyndromic cleft lip with or without cleft palate, SLC19A1 80A appears to be protective against MTHFR 677T risk allele.
23148635 Individual SNP and haplotype analyses suggest that SLC19A1 could be a functional variant altering MTX toxicity.
23144806 Folate receptor alpha mRNA and protein overexpression and reduced reduced folate carrier protein expression in association with folate receptor alpha gene amplification and reduced folate carrier protein promoter hypermethylation, respectively.
22975209 The present meta-analysis failed to support a positive association between RFC1 A80G polymorphism and susceptibility to neural tube defects. [Meta-analysis]
22890010 SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.
22475273 No association between SLC19A1 c.80A.G and heart defect risk was found.
22344739 associations between idiopathic recurrent spontaneous abortion occurrence and SLC19A1 -43T>C/80G>A/696C>T polymorphisms were identified and can be developed as biomarkers for recurrent spontaneous abortion risk
21811990 the allele and genotype frequencies of reduced folate carrier gene (RFC) 80G/A polymorphism in Chinese patients with acute leukemia
21760912 The purpose of this study was to compare the mRNA expression level of RFC/SLC19A1 in urothelial and non-urothelial variants of bladder carcinomas.
21507721 SLC19A1 80 GA heterozygotes had a decreased number of previously failed IVF treatments and were more prevalent among fertile controls
21274745 Genetic variation in SLC19A1 may modify the risk of distal colorectal adenoma.
20890936 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20852008 Observational study of gene-disease association. (HuGE Navigator)
20824655 Observational study of gene-disease association. (HuGE Navigator)
20737570 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20718043 Observational study of gene-disease association. (HuGE Navigator)
20683905 Two variants in the SLC19A1 gene (rs1888530 and rs3788200) were statistically significant for association with meningomyelocele.
20683905 Observational study of gene-disease association. (HuGE Navigator)
20651609 Polymorphisms of the reduced folate carrier gene is associated with non-small cell lung cancer.
20651609 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20647221 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20557288 Ser313 and transmembrane domain 8 of the human reduced folate carrier are substrate- binding site.
20544798 Observational study of gene-disease association. (HuGE Navigator)
20494980 The SLC19A1 distal promoter contains an activating cis-regulatory element that is responsive to Trichostatin A (TSA) treatment and to serum depletion according to promoter reporter assays in HEK 293 cells.
20468076 In case-control analysis, a significant increase in the reduced folate carrier (RFC1) G allele frequency was found among autism case mothers, but not among fathers or affected children.
20458436 Observational study of gene-disease association. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20371868 Observational study of genetic testing. (HuGE Navigator)
20335220 RFC 80G>A polymorphism interacts with chromosome 21 copy numbers and affects both efficacy and toxicity of MTX.
20310006 no association was observed with respect to MTHFR C677T and A1298C, RFC A80G, and TYMS polymorphisms and risk of retinoblastoma
20235210 Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20233025 polymorphism 80G>A of the SLC19A1 gene is not associated with male infertility
20233025 Observational study of gene-disease association. (HuGE Navigator)
20056620 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20037791 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20036773 Using immunohistochemistry, RFC was localized to both microvillous plasma membrane and basal plasma membrane of syncytiotrophoblasts at term; RFC was localized to cytotrophoblasts plasma membranes during first trimester.
20018840 Results strongly support the notion that each hRFC monomer comprises a single translocation pathway for anionic folate substrates and functions independently of other monomers
19913121 Observational study of gene-disease association. (HuGE Navigator)
19841321 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19729796 Maternal folate-related polymorphisms studied here (CBS, MTR, RFC-1, and TC) have no influence on trisomy 21 susceptibility in subjects of Brazilian population.
19706844 Meta-analysis of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19651439 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19650776 SLC19A1 c.80G>A polymorphism is associated with red cell folate concentrations among women.
19650776 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19571232 Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
19340000 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19336437 Observational study of gene-disease association. (HuGE Navigator)
19336370 Observational study of gene-disease association. (HuGE Navigator)
19324355 Observational study of gene-disease association. (HuGE Navigator)
19274320 There was no evidence of any association between the RFC1 A80G and TC2 C776G polymorphisms and the maternal risk of Down's syndrome.
19172696 although the RFC1 80G > A and FOLH1 1561C > T polymorphisms may influence folate status, they are not likely to have a major independent role in the development of colorectal cancer
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19161160 Observational study of gene-disease association. (HuGE Navigator)
19105199 The RFC1 is likely to be an important candidate gene in folate transportation and RFC1 GG genotype (A80G) may be associated with an increased risk for neural tube defects in this Chinese population
19048631 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19020309 For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased acute lymphoblastic leukemia susceptibility.
19019821 By co-expression of wild type and inactive mutant S138C hRFCs, combined with surface biotinylation and confocal microscopy, a dominant-negative phenotype was demonstrated
18988749 Observational study of genetic testing. (HuGE Navigator)
18830263 Observational study of gene-disease association. (HuGE Navigator)
18797703 RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D.
18776693 Placental RFC1 transport during pregnancy is reported.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18650265 Intestinal folate uptake process undergoes differentiation-dependent regulation and that this regulation is mediated via changes in the level of expression of both the RFC and PCFT.
18635682 Observational study of gene-disease association. (HuGE Navigator)
18629538 The RFC-1 c.80A-->G polymorphism is less biologically significant for placental abruption.
18528741 The data suggest promoter methylation and polymorphisms in the 3' untranslated region of the reduced folate carrier may be involved in its transcriptional regulation in ostenogenic sarcome.
18499665 reduced folate carrier (RFC) is cytotoxic to cells under conditions of severe folate deprivation
18427977 Observational study of genetic testing. (HuGE Navigator)
18414976 hRFC plays a role in molecular mechanisms leading to the Down syndrome phenotype as mice containing an hRFC construct in addition to two mouse copies showed cognitive and behavioral changes similar to human Down syndrome.
18322994 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18182479 These results establish that Lys411 participates in substrate binding via an ionic association with the substrate gamma-carboxylate.
18053808 SLC19A1 and MTHFR genes are differently associated with red cell and plasma folate levels.
18053808 Observational study of gene-disease association. (HuGE Navigator)
18028428 In DLBCL, genetic and epigenetic alterations of RFC were detected at diagnosis in the absence of a selective MTX pressure, suggesting that these alterations may possibly contribute to the development of lymphoma.
17983788 For the humanized hRFC mice, levels of B and A1/A2 5' UTRs predominated in all mice/tissues, thus resembling results in normal human tissues. Lower levels of A and C 5' UTRs were also detected.
17891500 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17436311 Observational study of gene-disease association. (HuGE Navigator)
17404734 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17334909 This review attempts to provide a comprehensive overview of the biology of the physiologically and pharmacologically important transport system termed the "reduced folate carrier" (RFC).
17325736 Evaluation of RFC-1 gene 80G>A polymorphism may be a useful tool to optimize methotrexate therapy in patients with rheumatoid arthritis.
17323057 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17311260 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17311259 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17306382 results demonstrate an important role for posttranscriptional determinants of cellular hRFC levels and activity.
17264302 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17113562 Observational study of genotype prevalence. (HuGE Navigator)
17035141 Observational study of gene-disease association. (HuGE Navigator)
16962770 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16923800 implicate amino acids in transmembrane domains (TMDs) 4, 5, 7, 8, 10, and 11, but not in TMDs 1, 2, 3, 6, 9, or 12, as important structural or functional components of the putative hydrophilic cavity for binding of anionic folate substrates
16917939 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16875718 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16750224 The G80A reduced folate carrier SNP had an impact on the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population.
16471213 association between offspring RFC1 GG genotype and the risk of neural tube defects
16365025 Observational study of gene-disease association. (HuGE Navigator)
16225938 our results demonstrate a transcriptionally important region in the hRFC-A1/A2 promoter including E-box and GATA elements, and a transactivation by USF1 and GATA1 proteins
16122883 Significantly higher expression levels of RFC-1 (p = 0.026) and FPGS (p = 0.05) were found in mucosa expressing the splice variant DCC342 compared to mucosa that did not
16115875 residues within TMD 11 are likely critical structural and/or functional components of the putative hRFC transmembrane channel for anionic folate and anti-folate substrates
15964598 Observational study of gene-disease association. (HuGE Navigator)
15964598 G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism.
15937947 Observational study of gene-disease association. (HuGE Navigator)
15922487 Observational study of gene-disease association. (HuGE Navigator)
15922487 CBS, MTHFR, and SLC19a1 are involved in metabolism of folate and lung cancer risk in China
15797993 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15652157 Collectively, these results identify transcriptionally important regions in the hRFC-C minimal promoter that include a GC-box and CCAAT-box, and suggest that cooperative interactions between Sp1 and C/EBP beta are essential for hRFC-C transactivation.
15564880 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15469899 altered reduced folate carrier sequence changes may have roles in osteosarcoma
15457444 Polymorphisms of reduced folate carrier,aminoimidazole carboxamide ribonucleotide transformylase,and thymidylate synthase genes contribute to the therapeutic response in rheumatoid arthritis patients to methotrexate.
15337749 a functional RFC can be reconstituted with RFC half-molecules and localize a critical substrate binding domain to within TMDs 7-12
15297414 use of the A1/A2 5'UTR of RFC1 in acute lymphoblastic leukemia may confer a transport phenotype distinct from the other 5'UTRs due to altered translation efficiency and transport properties
15214842 co-operative interactions between transcription factors Sp1 and USF are essential for high-level hRFC-B transactivation and imply that these effects are modulated by the family of Ikaros proteins and by histone acetylation
15068242 Aberrant RFC expression may have a role in the already observed deterioration of folate metabolism in Down syndrome.
14602046 Evidence for the 12 transmembrane domains topology model of the reduced folate carrier.
14584080 Reduced folate carrier protein expression in osteosarcoma.
14551190 Transcriptional silencing of the hRFC gene in tumor cell lines resistant to antifolates is a result of loss of function of transcription factors, not promoter methylation.
12855225 the combination of the RR genotype for RFC-1 and low RBC folate was associated with a significant 4.6-fold increase in neural tube defect risk
12753319 RFC1 80G>A is not a major determinant of homoxysteine plasma levels in kidney transplant patients.
12749765 results imply that amino acids 40, 44, 48 and, possibly, 42 serve important roles in hRFC transport, albeit not as structural components of the putative transmembrane channel for folate substrates
12707400 Among patient groups with different RFC1 genotypes, red blood cell folate level was not significantly different in ESRD
12673279 RFC-1 A80G variant may contribute to Neural Tube Defect susceptibility in the Italian population.
12576457 Sequence alterations (SSCP) are observed in osteosarcsomas smples.
12519783 there is a novel mechanism of antifolate resistance that is based on altered expression and function of transcription factors resulting in transcriptional silencing of the hRFC promoter
12454742 Role of the E45K-reduced folate carrier gene mutation in methotrexate resistance in human leukemia cells.
12411325 relationship of polymorphism G80A in the reduced folate carrier gene to resistance to methotrexate in childhood acute lymphoblastic leukemia
12228234 human RFC has a polymorphism that increases promoter activity and may contribute to interpatient variations in hRFC expression and effects on tissue folate homeostasis and antitumor response to antifolates
12227830 role of the linker peptide in providing the proper spatial orientation between the two halves of the protein for optimal function, and that this is largely independent of amino acid sequence
12144527 suggestion of an intricate regulation of hRFC gene expression involving multiple promoters and non-coding exons, and provision of transcriptional framework for role in pathophysiology of folate deficiency and antifolate drug selectivity
12139489 molecular characterization of human RFC-associated modalities of resistance to various novel antifolates in multiple leukaemia sublines
12087110 transport of RFC1 in epithelial cells
11857541 spina bifida risk was influenced by an interaction between a polymorphism of infant RFC1 at nucleotide 80 (A80G) and maternal periconceptional use of vitamins containing folic acid
11705857 A high-abundance C/T696 polymorphism was detected with nearly identical frequencies for both alleles, and a heterozygous C/A1242 sequence variant was identified in two ALL specimens.

AA Sequence

MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITP      1 - 70
VLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYI     71 - 140
FSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSL    141 - 210
FFNRDDRGRCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAG    211 - 280
YYLVVYYVHILWNEVDPTTNSARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLV    281 - 350
FLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD    351 - 420
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKG    421 - 490
LGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPVTTPSPCTLCSAQASGPEAAD    491 - 560
ETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ                                           561 - 591
//

Text Mined References (169)

PMID Year Title
26193446 2015 Expression of Folate Pathway Genes in Stage III Colorectal Cancer Correlates with Recurrence Status Following Adjuvant Bolus 5-FU-Based Chemotherapy.
25860940 2015 MYCN amplification confers enhanced folate dependence and methotrexate sensitivity in neuroblastoma.
25659099 2015 Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain infarction.
25124723 2014 SLC19A1, SLC46A1 and SLCO1B1 polymorphisms as predictors of methotrexate-related toxicity in Portuguese rheumatoid arthritis patients.
25078587 2014 Relationship between RFC gene expression and intracellular drug concentration in methotrexate-resistant osteosarcoma cells.
25074866 2014 Association of MDR1 C3435T and RFC1 G80A polymorphisms with methotrexate toxicity and response in Jordanian rheumatoid arthritis patients.
24995314 2014 A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians.
24927955 2014 Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate concentrations in Chinese children with acute lymphoblastic leukemia.
24917213 2015 Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects.
24782176 2014 RFC1 80G>A is a genetic determinant of methotrexate efficacy in rheumatoid arthritis: a human genome epidemiologic review and meta-analysis of observational studies.
24749799 2015 Relationship between reduced folate carrier gene polymorphism and non-syndromic cleft lip and palate in Indian population.
24554143 2014 Serum folic acid and RFC A80G polymorphism in Alzheimer's disease and vascular dementia.
24396145 2014 The major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.
24367687 2013 Using a Bayesian hierarchical model for identifying single nucleotide polymorphisms associated with childhood acute lymphoblastic leukemia risk in case-parent triads.
24350725 2014 SLC19A1 80G allele as a biomarker of methotrexate-related gastrointestinal toxicity in Portuguese rheumatoid arthritis patients.
24237708 2014 The effect of RFC G80A polymorphism in Cretan children with acute lymphoblastic leukemia and its interaction with MTHFR C677T and A1298C polymorphisms.
24100087 2014 Polymorphisms of folate metabolism-related genes and survival of patients with colorectal cancer in the Korean population.
23986219 The influence of genetic RFC1, MS and MTHFR polymorphisms on the risk of acute lymphoblastic leukemia relapse in children and the adverse effects of methotrexate.
23838799 2013 Alterations in the expression pattern of MTHFR, DHFR, TYMS, and SLC19A1 genes after treatment of laryngeal cancer cells with high and low doses of methotrexate.
23669721 2013 Can SLC19A1 80G>A polymorphisms predict risk of extremely delayed MTX excretion after high dose of methotrexate?
23656756 2013 Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.
23385809 2013 Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: is homocysteine a factor?
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23148635 2012 Genetic variation in the SLC19A1 gene and methotrexate toxicity in rheumatoid arthritis patients.
23144806 2012 Paradoxical impact of two folate receptors, FR? and RFC, in ovarian cancer: effect on cell proliferation, invasion and clinical outcome.
22975209 2012 Reduced folate carrier A80G polymorphism and susceptibility to neural tube defects: a meta-analysis.
22890010 2012 Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22475273 2013 Risk of congenital heart defects is influenced by genetic variation in folate metabolism.
22344739 2012 Solute Carrier Family 19, member 1 (SLC19A1) polymorphisms (-43T>C, 80G>A, and 696C>T), and haplotypes in idiopathic recurrent spontaneous abortion in a Korean population.
21811990 2011 [Association of single nucleotide polymorphism of reduced folate carrier gene with susceptibility to acute leukemia].
21760912 2011 Expression of RFC/SLC19A1 is associated with tumor type in bladder cancer patients.
21507721 2011 Folate-metabolizing gene variants and pregnancy outcome of IVF.
21274745 2011 Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
20890936 2010 Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.
20852008 2010 Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.
20824655 2011 Xenobiotic and folate pathway gene polymorphisms and risk of childhood acute lymphoblastic leukaemia in Javanese children.
20737570 2010 Genetic variants in one-carbon metabolism-related genes contribute to NSCLC prognosis in a Chinese population.
20718043 2010 Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
20683905 2010 Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.
20651609 2010 Correlation between polymorphisms of the reduced folate carrier gene (SLC19A1) and survival after pemetrexed-based therapy in non-small cell lung cancer: a North Central Cancer Treatment Group-based exploratory study.
20647221 2011 Associations of various gene polymorphisms with toxicity in colorectal cancer patients receiving oral uracil and tegafur plus leucovorin: a prospective study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20557288 2010 Substrate-specific binding and conformational changes involving Ser313 and transmembrane domain 8 of the human reduced folate carrier, as determined by site-directed mutagenesis and protein cross-linking.
20544798 2010 Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women.
20494980 2010 Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
20468076 2010 A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism.
20458436 2010 Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20371868 2010 Application of high-resolution melting to large-scale, high-throughput SNP genotyping: a comparison with the TaqMan method.
20335220 2010 The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number.
20310006 2010 MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children.
20235210 2010 Predictors for remission in rheumatoid arthritis patients: A systematic review.
20233025 2010 The SLC19A1 80G>A polymorphism is not associated with male infertility.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20056620 2010 Vitamins B2 and B6 and genetic polymorphisms related to one-carbon metabolism as risk factors for gastric adenocarcinoma in the European prospective investigation into cancer and nutrition.
20037791 2010 Genes involved with folate uptake and distribution and their association with colorectal cancer risk.
20036773 2010 Expression of folate transporters in human placenta and implications for homocysteine metabolism.
20018840 2010 Identification of the minimal functional unit of the homo-oligomeric human reduced folate carrier.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19841321 2010 Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426.
19729796 2009 Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.
19706844 2009 Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19651439 2010 Genetic susceptibility to childhood acute lymphoblastic leukemia shows protection in Malay boys: results from the Malaysia-Singapore ALL Study Group.
19650776 2009 The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19571232 2009 Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19340000 2009 Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia.
19336437 2009 Vasculopathic and thrombophilic risk factors for spontaneous preterm birth.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19324355 2010 Variations in folate pathway genes are associated with unexplained female infertility.
19274320 2008 A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology.
19172696 2008 The reduced folate carrier (RFC1) 80G > A and folate hydrolase 1 (FOLH1) 1561C > T polymorphisms and the risk of colorectal cancer: a nested case-referent study.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19161160 2009 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
19105199 2009 Association of reduced folate carrier gene polymorphism and maternal folic acid use with neural tube defects.
19048631 2009 Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
19020309 2009 Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia.
19019821 2009 Oligomeric structure of the human reduced folate carrier: identification of homo-oligomers and dominant-negative effects on carrier expression and function.
18988749 2009 MALDI-TOF MS genotyping of polymorphisms related to 1-carbon metabolism using common and mass-modified terminators.
18830263 2009 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
18797703 2008 Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only.
18776693 2008 Placental folate transport during pregnancy.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18650265 2008 Differentiation-dependent regulation of the intestinal folate uptake process: studies with Caco-2 cells and native mouse intestine.
18635682 2008 Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.
18629538 2008 Reduced folate carrier 80A-->G polymorphism, plasma folate, and risk of placental abruption.
18528741 2008 Polymorphisms and methylation of the reduced folate carrier in osteosarcoma.
18499665 2008 The reduced folate carrier (RFC) is cytotoxic to cells under conditions of severe folate deprivation. RFC as a double edged sword in folate homeostasis.
18427977 2008 High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.
18414976 2009 Mice transgenic for reduced folate carrier: an animal model of Down syndrome?
18322994 2008 Common polymorphisms in the folate pathway predict efficacy of combination regimens containing methotrexate and sulfasalazine in early rheumatoid arthritis.
18182479 2008 Role of lysine 411 in substrate carboxyl group binding to the human reduced folate carrier, as determined by site-directed mutagenesis and affinity inhibition.
18053808 2008 Distinct association of SLC19A1 polymorphism -43T>C with red cell folate levels and of MTHFR polymorphism 677C>T with plasma folate levels.
18028428 2008 Genetic and epigenetic alterations of the reduced folate carrier in untreated diffuse large B-cell lymphoma.
17983788 2008 A humanized mouse model for the reduced folate carrier.
17891500 2007 One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.
17436311 2007 Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.
17404734 2007 Transcription regulatory polymorphism -43T>C in the 5'-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy.
17334909 2007 Human reduced folate carrier: translation of basic biology to cancer etiology and therapy.
17325736 2007 Reduced folate carrier-1 80G>A polymorphism affects methotrexate treatment outcome in rheumatoid arthritis.
17323057 2007 Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia.
17311260 2007 Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses.
17311259 2007 Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer.
17306382 2007 Effects of 5' untranslated region diversity on the posttranscriptional regulation of the human reduced folate carrier.
17264302 2007 Ancestry and pharmacogenetics of antileukemic drug toxicity.
17113562 2007 Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array.
17035141 2006 Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
16962770 2006 Reduced folate carrier gene G80A polymorphism is associated with an increased risk of gastroesophageal cancers in a Chinese population.
16923800 2006 Transmembrane domains 4, 5, 7, 8, and 10 of the human reduced folate carrier are important structural or functional components of the transmembrane channel for folate substrates.
16917939 2006 Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism.
16875718 2006 XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer.
16750224 2006 G80A reduced folate carrier SNP influences the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population.
16471213 2005 [A parental case control study on the association between reduced folate carrier gene polymorphism and neural tube defects].
16365025 2005 Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes.
16225938 2005 Transcriptional regulation of the human reduced folate carrier A1/A2 promoter: Identification of critical roles for the USF and GATA families of transcription factors.
16122883 2005 Low expression of reduced folate carrier-1 and folylpolyglutamate synthase correlates with lack of a deleted in colorectal carcinoma mRNA splice variant in normal-appearing mucosa of colorectal carcinoma patients.
16115875 2005 Localization of a substrate binding domain of the human reduced folate carrier to transmembrane domain 11 by radioaffinity labeling and cysteine-substituted accessibility methods.
15964598 2005 G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism.
15937947 2005 Folate-related genes and omphalocele.
15922487 2005 Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.
15797993 2005 Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.
15652157 2005 Transcriptional regulation of the human reduced folate carrier promoter C: synergistic transactivation by Sp1 and C/EBP beta and identification of a downstream repressor.
15564880 2004 Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15469899 2004 Functional analysis of altered reduced folate carrier sequence changes identified in osteosarcomas.
15457444 2004 Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.
15337749 2004 Restoration of transport activity by co-expression of human reduced folate carrier half-molecules in transport-impaired K562 cells: localization of a substrate binding domain to transmembrane domains 7-12.
15297414 2004 Primary acute lymphoblastic leukemia cells use a novel promoter and 5'noncoding exon for the human reduced folate carrier that encodes a modified carrier translated from an upstream translational start.
15214842 2004 Roles of USF, Ikaros and Sp proteins in the transcriptional regulation of the human reduced folate carrier B promoter.
15068242 2003 Increased expression of human reduced folate carrier in fetal Down syndrome brain.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14609557 2003 Regulation of reduced-folate transporter-1 (RFT-1) by homocysteine and identity of transport systems for homocysteine uptake in retinal pigment epithelial (RPE) cells.
14602046 2004 Analysis of the membrane topology for transmembrane domains 7-12 of the human reduced folate carrier by scanning cysteine accessibility methods.
14584080 2003 Reduced folate carrier protein expression in osteosarcoma: implications for the prediction of tumor chemosensitivity.
14551190 2004 Reduced folate carrier gene silencing in multiple antifolate-resistant tumor cell lines is due to a simultaneous loss of function of multiple transcription factors but not promoter methylation.
12855225 2003 Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.
12753319 2003 Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients.
12749765 2003 Characterization of a cysteine-less human reduced folate carrier: localization of a substrate-binding domain by cysteine-scanning mutagenesis and cysteine accessibility methods.
12707400 2003 Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients.
12673279 2003 Reduced folate carrier polymorphism (80A-->G) and neural tube defects.
12576457 2003 Sequence alterations in the reduced folate carrier are observed in osteosarcoma tumor samples.
12519783 2003 Alterations in the expression of transcription factors and the reduced folate carrier as a novel mechanism of antifolate resistance in human leukemia cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12454742 2002 Role of the E45K-reduced folate carrier gene mutation in methotrexate resistance in human leukemia cells.
12411325 2002 Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia.
12228234 2002 The human reduced folate carrier gene is regulated by the AP2 and sp1 transcription factor families and a functional 61-base pair polymorphism.
12227830 2003 Restoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier function.
12175915 2002 Analysis of membrane topology of the human reduced folate carrier protein by hemagglutinin epitope insertion and scanning glycosylation insertion mutagenesis.
12144527 2002 The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter.
12139489 2002 Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell lines.
12087110 2002 Intracellular trafficking and membrane targeting mechanisms of the human reduced folate carrier in Mammalian epithelial cells.
11857541 2002 Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida.
10830953 2000 The DNA sequence of human chromosome 21.
10787414 2000 Expression and differential polarization of the reduced-folate transporter-1 and the folate receptor alpha in mammalian retinal pigment epithelium.
10347183 1999 Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion.
9804996 1998 Structure and organization of the human reduced folate carrier gene.
9602167 1998 Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5' end heterogeneity.
9570943 1998 Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
9041240 1997 Human intestinal folate transport: cloning, expression, and distribution of complementary RNA.
8276792 1994 A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells.
7852378 1995 Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake.
7826387 1995 Molecular cloning of the human placental folate transporter.
7763259 1995 Assignment of the human folate transporter gene to chromosome 21q22.3 by somatic cell hybrid analysis and in situ hybridization.
7641195 1995 Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells.
7615551 1995 Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells.