| Circular RNA circ-MTHFD1L induces HR repair to promote gemcitabine resistance via the miR-615-3p/RPN6 axis in pancreatic ductal adenocarcinoma. | Circular RNA circ-MTHFD1L induces HR repair to promote gemcitabine resistance via the miR-615-3p/RPN6 axis in pancreatic ductal adenocarcinoma.
Chen ZW, Hu JF, Wang ZW, Liao CY, Kang FP, Lin CF, Huang Y, Huang L, Tian YF, Chen S., Free PMC Article | 05/14/2022 |
| Integrative analysis reveals methylenetetrahydrofolate dehydrogenase 1-like as an independent shared diagnostic and prognostic biomarker in five different human cancers. | Integrative analysis reveals methylenetetrahydrofolate dehydrogenase 1-like as an independent shared diagnostic and prognostic biomarker in five different human cancers.
Sial N, Rehman JU, Saeed S, Ahmad M, Hameed Y, Atif M, Rehman A, Asif R, Ahmed H, Hussain MS, Khan MR, Ambreen A, Ambreen A., Free PMC Article | 02/5/2022 |
| MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway. | MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway.
Wang L, Yang Y, Wang XM, Wang CQ, Zhang YM, Li BL. | 07/17/2021 |
| Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner's curse effect. | Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not influence multiple myeloma survival in Sweden.
Ali M, Lemonakis K, Wihlborg AK, Veskovski L, Turesson I, Mellqvist UH, Gullberg U, Hansson M, Nilsson B., Free PMC Article | 05/2/2020 |
| MTHFD1L protein and RNA expression levels were significantly upregulated in esophageal squamous cell carcinoma tissue as compared with normal tissue. High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109). | The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma.
Yang YS, Yuan Y, Hu WP, Shang QX, Chen LQ. | 11/10/2018 |
| study identifies MTHFD1L in the folate cycle as an important metabolic pathway in cancer cells with the potential for therapeutic targeting | Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.
Lee D, Xu IM, Chiu DK, Lai RK, Tse AP, Lan Li L, Law CT, Tsang FH, Wei LL, Chan CY, Wong CM, Ng IO, Wong CC., Free PMC Article | 09/16/2017 |
| Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease. | Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.
Eszlari N, Kovacs D, Petschner P, Pap D, Gonda X, Elliott R, Anderson IM, Deakin JF, Bagdy G, Juhasz G., Free PMC Article | 10/22/2016 |
| rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS. | Rs6922269 marker at the MTHFD1L gene predict cardiovascular mortality in males after acute coronary syndrome.
Hubacek JA, Staněk V, Gebauerová M, Poledne R, Aschermann M, Skalická H, Matoušková J, Kruger A, Pěnička M, Hrabáková H, Veselka J, Hájek P, Lánská V, Adámková V, Pitˇha J. | 05/28/2016 |
| MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease. | Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients.
Palmer BR, Slow S, Ellis KL, Pilbrow AP, Skelton L, Frampton CM, Palmer SC, Troughton RW, Yandle TG, Doughty RN, Whalley GA, Lever M, George PM, Chambers ST, Ellis C, Richards AM, Cameron VA., Free PMC Article | 05/30/2015 |
| Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects. | An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
Minguzzi S, Selcuklu SD, Spillane C, Parle-McDermott A. | 08/9/2014 |
| The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L) | Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
Minguzzi S, Molloy AM, Peadar K, Mills J, Scott JM, Troendle J, Pangilinan F, Brody L, Parle-McDermott A., Free PMC Article | 10/27/2012 |
| This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population. | Replication of the MTHFD1L gene association with late-onset Alzheimer's disease in a Northern Han Chinese population.
Ma XY, Yu JT, Wu ZC, Zhang Q, Liu QY, Wang HF, Wang W, Tan L. | 08/11/2012 |
| No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population. | The MTHFD1L gene rs11754661 marker is not associated with Alzheimer's disease in a sample of the Spanish population.
Ramírez-Lorca R, Boada M, Antúnez C, López-Arrieta J, Moreno-Rey C, Hernández I, Marín J, Gayán J, González-Pérez A, Alegret M, Tárraga L, Real LM, Ruiz A. | 06/9/2012 |
| Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China. | The MTHFD1L gene rs11754661 marker is associated with susceptibility to Alzheimer's disease in the Chinese Han population.
Ren RJ, Wang LL, Fang R, Liu LH, Wang Y, Tang HD, Deng YL, Xu W, Wang G, Chen SD. | 06/2/2012 |
| Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK., Free PMC Article | 03/23/2012 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Naj AC, Beecham GW, Martin ER, Gallins PJ, Powell EH, Konidari I, Whitehead PL, Cai G, Haroutunian V, Scott WK, Vance JM, Slifer MA, Gwirtsman HE, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA., Free PMC Article | 12/5/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Additive effect of multiple genetic variants on the risk of coronary artery disease.
Lluís-Ganella C, Lucas G, Subirana I, Sentí M, Jimenez-Conde J, Marrugat J, Tomás M, Elosua R. | 12/5/2010 |
| mitochondrial C1-tetrahydrofolate synthase gene structure and tissue distribution | Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.
Prasannan P, Pike S, Peng K, Shane B, Appling DR., Free PMC Article | 09/29/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| association of rs6922269 with coronary heart disease not replicated in Tunisian sample | Association of three polymorphisms selected from a genome-wide association study with coronary heart disease in the Tunisian population.
Ghazouani L, Khalifa SB, Abboud N, Perret C, Nicaud V, Ben Khalfallah A, Alamawi WY, Cambien F, Mahjoub T. | 04/12/2010 |
| Two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts. | A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC, Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC., Free PMC Articles: PMC2787683, PMC2787683 | 02/8/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (7) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans.
Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.
Bressler J, Folsom AR, Couper DJ, Volcik KA, Boerwinkle E. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC, Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC. Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy.
McKnight AJ, Maxwell AP, Fogarty DG, Sadlier D, Savage DA, Warren 3/UK GoKinD Study Group. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. | 11/16/2008 |
| Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency. | Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain.
Fountoulakis M, Gulesserian T, Lubec G. | 01/21/2010 |
| Gene encodes the mitochondrial isozyme of C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme containing formyl-THF synthetase activity. | Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.
Walkup AS, Appling DR. | 12/30/2005 |