Varaico: Literature-Extracted Genetic Variants

Gene:MTHFD1
Variant:p.R653Q
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MTHFD1

NM_005956.4:p.R653Q

Associated Papers

The molecular puzzle of recurrent implantation failure: integrating genetic, epigenetic, and immune mechanisms for precision reproductive medicine.

Abuhassan Q et al.

Journal of Assisted Reproduction and Genetics, 2026

Congenital heart disease and folate pathway gene polymorphisms: findings from a North Indian cohort.

Kukshal P et al.

Bmc Cardiovascular Disorders, 2026

Contrasting Effects of Phosphatidylcholine and Betaine Supplementation on Embryonic Development in a Mouse Model of the MTHFD1 R653Q Variant.

Christensen KE et al.

The Journal of Nutrition, 2025

Dietary and Circulating Vitamins, Polymorphisms of Vitamin Metabolism Genes, and the Risk of Gastrointestinal Cancers: A Systematic Review and Meta-Analysis.

Wang XL et al.

Clinical and Translational Gastroenterology, 2025

GeneRiskCalc: a web-based tool for genetic risk association analysis in case-control studies.

Sudershan A et al.

Bmc Bioinformatics, 2025

Is there a causal link between folate status and schizophrenia? Evidence from genetic association studies.

Yoo S et al.

Nutritional Neuroscience, 2025

Relationship of Choline Intake with Biomarkers of Liver Health by Genotype-A Cross-Sectional Analysis.

Wallace TC et al.

The Journal of Nutrition, 2025

Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis.

Yi K et al.

Bmc Medical Genomics, 2025

Mutated DNMT3A creates a public HLADQ- binding neoantigen on acute myeloid leukemia.

van der Lee DI et al.

Frontiers in Immunology, 2025

The biological relationship among depression, vitamins B9, B12, and D, and genetic variants: a systematic review.

Soriano-Gonzalez R et al.

Frontiers in Nutrition, 2025

Dietary folic acid intake, 13 genetic variants and other factors with red blood cell folate concentration in pregnancy-preparing population.

He W et al.

European Journal of Nutrition, 2024

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings.

Karas Kuželički N et al.

Birth Defects Research, 2024

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Increased susceptibility for nonsyndromic cleft lip with or without cleft palate by SLC19A1 80G>A genetic variation.

Patel A et al.

Journal of the World Federation of Orthodontists, 2024

Association of MTHFD1 G1958A Polymorphism with Gestational Diabetes Mellitus.

Bunga PK et al.

Cureus, 2024

Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study.

Ahmadi S et al.

Clinical Medicine Insights. Oncology, 2024

Genome-wide interaction analysis of folate for colorectal cancer risk.

Bouras E et al.

The American Journal of Clinical Nutrition, 2023

37640106 (PubMed )
Supplement: mmc2.xlsx › S.11

Association of Maternal Folate Intake and Offspring MTHFD1 and MTHFD2 Genes with Congenital Heart Disease.

Liu H et al.

Nutrients, 2023

Common Variants in One-Carbon Metabolism Genes (MTHFR, MTR, MTHFD1) and Depression in Gynecologic Cancers.

Pawlik P et al.

International Journal of Molecular Sciences, 2023

The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.

Rao K et al.

Cellular Oncology (dordrecht, Netherlands), 2023

BHMT polymorphism and susceptibility to PTE in Chinese patients.

Zhang WH et al.

European Review for Medical and Pharmacological Sciences, 2023

Mass spectrometry-based targeted proteomics for analysis of protein mutations.

Lin TT et al.

Mass Spectrometry Reviews, 2023

Folate in maternal rheumatoid arthritis-filial autism spectrum disorder continuum.

Ravaei A et al.

Reproductive Toxicology (elmsford, N.y.), 2023

One-carbon metabolism is required for epigenetic stability in the mouse placenta.

Senner CE et al.

Frontiers in Cell and Developmental Biology, 2023

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

Purohit MR et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.

Almekkawi AK et al.

Journal of Personalized Medicine, 2022

[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].

Chen Q et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2022

Associations between Genetic Variants and Blood Biomarkers of One-Carbon Metabolism in Postmenopausal Women from the Women's Health Initiative Observational Study.

Cheng TD et al.

The Journal of Nutrition, 2022

Biophysical evidence to support and extend the vitamin D-folate hypothesis as a paradigm for the evolution of human skin pigmentation.

Lucock MD et al.

American Journal of Human Biology : the Official Journal of the Human Biology Council, 2022

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Cereja Pantoja KBC et al.

Genes, 2022

35205374 (PubMed )
Supplement: genes-13-00330-s001.zip › genes-1515643-SI.pdf

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

Song X et al.

Bmc Pregnancy and Childbirth, 2022

Association between high-dose methotrexate-induced toxicity and polymorphisms within methotrexate pathway genes in acute lymphoblastic leukemia.

Xu M et al.

Frontiers in Pharmacology, 2022

Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice.

Christensen KE et al.

Nutrients, 2021

Association of MTHFR and ABCB1 polymorphisms with MTX-induced mucositis in Chinese paediatric patients with acute lymphoblastic leukaemia, lymphoma or osteosarcoma-A retrospective cohort study.

Gong Y et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

Younes S et al.

International Journal of Obesity (2005), 2021

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

Cho SH et al.

Human Fertility (cambridge, England), 2021

Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.

Taylor ZL et al.

Cancers, 2021

Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.

Singh A et al.

International Journal of Rheumatic Diseases, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Associations between Plasma Choline Metabolites and Genetic Polymorphisms in One-Carbon Metabolism in Postmenopausal Women: The Women's Health Initiative Observational Study.

Ilozumba MN et al.

The Journal of Nutrition, 2020

Association between the TPMT*3C (rs1142345) Polymorphism and the Risk of Death in the Treatment of Acute Lymphoblastic Leukemia in Children from the Brazilian Amazon Region.

Cardoso de Carvalho D et al.

Genes, 2020

Folate Insufficiency Due to MTHFR Deficiency Is Bypassed by 5-Methyltetrahydrofolate.

Vidmar Golja M et al.

Journal of Clinical Medicine, 2020

Environmental exposures and breast cancer risk in the context of underlying susceptibility: A systematic review of the epidemiological literature.

Zeinomar N et al.

Environmental Research, 2020

The Effect of Interactions between Folic Acid Supplementation and One Carbon Metabolism Gene Variants on Small-for-Gestational-Age Births in the Screening for Pregnancy Endpoints (SCOPE) Cohort Study.

Bulloch RE et al.

Nutrients, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."