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    MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 4522, updated on 6-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma.

    MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma.
    Guan J, Li M, Wang Y, Zhang Y, Que Y, Lu S, Wang J, Zhu J, Huang J, Zhen Z, Sun F, Song M, Zhang Y., Free PMC Article

    02/27/2024
    The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.

    The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.
    Rao K, Zheng K, Zhao Q, He J, Zhou B, Hou G, Sha N, Wang W, Yan M, Zhou Y, Jin Y, Jiang Y, Xia Q.

    05/25/2023
    Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis.

    Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis.
    Purohit MR, Saikrishna L, Verma H, Bhaskar LVKS, Hussain SA.

    10/15/2022
    [Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].", trans "MTHFD1MTHFD2.

    [Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].
    Chen Q, Huang P, Song XL, Liu YP, Sun MT, Wang TT, Zhang SM, Qin JB., Free PMC Article

    08/6/2022
    Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.

    Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.
    Song X, Li Q, Diao J, Li J, Li Y, Zhang S, Zhao L, Chen L, Wei J, Shu J, Liu Y, Sun M, Huang P, Wang T, Qin J., Free PMC Article

    02/19/2022
    Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure.

    Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure.
    Cho SH, Kim JH, An HJ, Kim JO, Kim YR, Lee WS, Kim NK.

    01/29/2022
    A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.

    A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.
    Li B, Li Y, Xu S, Chen H, Dai S, Peng X, Wang L, Liang Y, Li C, Tang B, Zhu L, Zhang T, Lv C, Wang C, Han L., Free PMC Article

    11/6/2021
    Orthogonal genome-wide screens of bat cells identify MTHFD1 as a target of broad antiviral therapy.

    Orthogonal genome-wide screens of bat cells identify MTHFD1 as a target of broad antiviral therapy.
    Anderson DE, Cui J, Ye Q, Huang B, Tan Y, Jiang C, Zu W, Gong J, Liu W, Kim SY, Yan BG, Sigmundsson K, Lim XF, Ye F, Niu P, Irving AT, Zhang H, Tang Y, Zhou X, Wang Y, Tan W, Wang LF, Tan X., Free PMC Article

    10/2/2021
    Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels.

    Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels.
    Jones P, Lucock M, Martin C, Thota R, Garg M, Yates Z, Scarlett CJ, Veysey M, Beckett E., Free PMC Article

    04/17/2021
    Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.

    Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
    Bidla G, Watkins D, Chéry C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Guéant JL, Rosenblatt DS.

    04/3/2021
    CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.

    CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.
    Vohra M, Adhikari P, Souza SC, Nagri SK, Umakanth S, Satyamoorthy K, Rai PS.

    02/2/2021
    the polymorphism in MTHFD1 G1598A gene could be considered as an important genetic disorder associated with the etiology of male infertility.

    Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility.
    Khaki AA, Tanoomand A, Hajibemani A, Abouhamzeh B.

    08/13/2020
    High MTHFD1 expression in HCC indicated poorer prognosis. Combining MTHFD1 with serum AFP improved the accuracy of prognostic prediction.

    Overexpression of MTHFD1 in hepatocellular carcinoma predicts poorer survival and recurrence.
    Yu H, Wang H, Xu HR, Zhang YC, Yu XB, Wu MC, Jin GZ, Cong WM.

    11/23/2019
    This study verified three SNPs in three genes (MTHFD1, MTHFR, and MTRR) were associated with neural tube defects risk in an independent Chinese population.

    Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.
    Fang Y, Zhang R, Zhi X, Zhao L, Cao L, Wang Y, Cai C.

    07/27/2019
    Our results showed that the differences in MTHFD1 methylation levels were statistically significant between control and essential hypertension subjects.

    MTHFD1 promoter hypermethylation increases the risk of hypertension.
    Xu M, Li J, Chen X, Han L, Li L, Liu Y.

    07/27/2019
    Hypomethylation of the MTHFD1 promoter is associated with stroke in Chinese hypertensive populations.

    Significant Association of Methylenetetrahydrofolate dehydrogenase 1 Promoter Hypomethylation with Stroke in a Chinese Population with Primary Hypertension.
    Wang C, Xu G, Wen Q, Peng X, Chen H, Zhang J, Xu S, Zhang C, Zhang M, Ma J, Hui Z, Du J, Wu G, Ma M.

    07/20/2019
    Our finding that MTHFD1 and other metabolic enzymes are chromatin associated suggests a direct role for nuclear metabolism in the control of gene expression.

    MTHFD1 interaction with BRD4 links folate metabolism to transcriptional regulation.
    Sdelci S, Rendeiro AF, Rathert P, You W, Lin JG, Ringler A, Hofstätter G, Moll HP, Gürtl B, Farlik M, Schick S, Klepsch F, Oldach M, Buphamalai P, Schischlik F, Májek P, Parapatics K, Schmidl C, Schuster M, Penz T, Buckley DL, Hudecz O, Imre R, Wang SY, Maric HM, Kralovics R, Bennett KL, Müller AC, Mechtler K, Menche J, Bradner JE, Winter GE, Klavins K, Casanova E, Bock C, Zuber J, Kubicek S., Free PMC Article

    07/13/2019
    This study is the first to show associations between MTHFD1 1958G>A, RFC-1 80G>A, MTHFR 677C>T, and MTHFR 1298A>C polymorphisms and UPL and to compare the effects of maternal and fetal samples on unexplained pregnancy loss using mother-abortus matched samples of Korean origin.

    Impact of RFC1, MTHFR, and MTHFD1 polymorphism on unexplained pregnancy loss (UPL): comparative analysis of maternal and fetal components using mother-abortus paired samples.
    Kim JY, Kim JW, Sung SR, Park JE, Shim SH, Cha DH.

    04/6/2019
    MTHFD1 was underexpressed in CCRCC tissue when compared with normal renal tissue. MTHFD1 transfection of human CCRCC Caki-1 cells in vitro inhibited cell proliferation and promoted apoptosis, associated with reduced expression of cyclin D1, reduced Akt phosphorylation, and increased expression of Bax/Bcl-2 and p53.

    Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) is Underexpressed in Clear Cell Renal Cell Carcinoma Tissue and Transfection and Overexpression in Caki-1 Cells Inhibits Cell Proliferation and Increases Apoptosis.
    He D, Yu Z, Liu S, Dai H, Xu Q, Li F., Free PMC Article

    02/2/2019
    Authors found that MTHFD1 expression in the tumor tissues and cells was higher than that of adjacent normal tissues and cells. The survival time of patients with high MTHFD1 expression was shorter than those with low MTHFD1 expression.

    Methylenetetrahydrofolate Dehydrogenase 1 Silencing Expedites the Apoptosis of Non-Small Cell Lung Cancer Cells via Modulating DNA Methylation.
    Ding K, Jiang J, Chen L, Xu X., Free PMC Article

    01/5/2019
    MTHFR 1298CC was significantly associated with AE risk. The MTHFR haplotypes 677C-1298C/677T-1298A and 677T-1298C conferred risk in a progressive manner. MTHFD1 1958G>A was not associated with disease susceptibility. Children with the rs2236225 GA and the rs1801131 CC genotypes were at an increased risk as compared to the reference genotype of rs2236225 GG and rs1801131

    Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India.
    Dutta HK, Borbora D, Baruah M, Narain K.

    06/9/2018
    Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian Pseudoexfoliation syndrome patients.

    MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population.
    Gopalakrishnan P, Haripriya A, Sundaresan P.

    05/19/2018
    The AA and GA genotypes of MTHFD1 G1958A, TT and GT genotypes of eNOS G894T and the AA and GA genotypes of ACE A2350G are risk factors for congenital heart defects.

    Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects.
    Khatami M, Ratki FM, Tajfar S, Akrami F.

    05/19/2018
    2 common and functional MTHFD1 polymorphisms (rs2236225 and rs1076991) modulate the risk associations of plasma serine and glycine with acute myocardial infarction in patients with stable angina pectoris.

    Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial).
    Ding Y, Pedersen ER, Svingen GF, Helgeland Ø, Gregory JF, Løland KH, Meyer K, Tell GS, Ueland PM, Nygård OK.

    11/4/2017
    MTHFD1 1958AA genotype is linked to a significantly reduced cancer risk. The 1958GG genotype is associated to PBMCs DNA hypomethylation as compared to the A allele carriership that may exert a protective effect for cancer risk by preserving from DNA hypomethylation

    One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation.
    Moruzzi S, Guarini P, Udali S, Ruzzenente A, Guglielmi A, Conci S, Pattini P, Martinelli N, Olivieri O, Tammen SA, Choi SW, Friso S., Free PMC Article

    11/4/2017
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