Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.H27R
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SLC19A1

NM_194255.4:p.H27R

Associated Papers

Pharmacogenetic insights into MTHFR and SLC19A1 variants in low-dose methotrexate therapy for rheumatologic diseases.

Martínez Téllez G et al.

Drug Metabolism and Personalized Therapy, 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

Effects of SCT genetic polymorphisms on methotrexate concentrations and toxicities in Chinese children with acute lymphoblastic leukemia.

Li M et al.

Leukemia & Lymphoma, 2025

Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters.

Stefanyshyn V et al.

Journal of Molecular Neuroscience : Mn, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome.

Ganguly A et al.

Plos One, 2025

Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol.

Salazar J et al.

Pharmaceutics, 2024

Pharmacogenetics of therapies in rheumatoid arthritis: An update.

Babiker-Mohamed MH et al.

Best Practice & Research. Clinical Rheumatology, 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

Genetic biomarkers of methotrexate response and safety in Crohn's disease: Data from the Spanish ENEIDA registry.

Salazar J et al.

British Journal of Clinical Pharmacology, 2024

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

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

Ravaei A et al.

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

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

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.

O'Brien NL et al.

Alcohol and Alcoholism (oxford, Oxfordshire), 2022

Is Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? - A Case Report.

Jeiziner C et al.

Pharmacogenomics and Personalized Medicine, 2022

Influence of RFC1 c.80A>G Polymorphism on Methotrexate-Mediated Toxicity and Therapeutic Efficacy in Rheumatoid Arthritis: A Meta-analysis.

Naushad SM et al.

The Annals of Pharmacotherapy, 2021

Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring.

Qin J et al.

European Journal of Pediatrics, 2021

Genetic variants associated with methotrexate-induced mucositis in cancer treatment: A systematic review and meta-analysis.

Maagdenberg H et al.

Critical Reviews in Oncology/hematology, 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

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Genetic Variants behind Cardiovascular Diseases and Dementia.

Ho WM 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

Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.

Kodidela S et al.

Genes, 2020

Pharmacogenomic Markers of Methotrexate Response in the Consolidation Phase of Pediatric Acute Lymphoblastic Leukemia Treatment.

Kotur N et al.

Genes, 2020

Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer.

López-Cortés A et al.

The Pharmacogenomics Journal, 2020

Association of MTHFR and RFC1 gene polymorphisms with methotrexate efficacy and toxicity in Chinese Han patients with rheumatoid arthritis.

Wang S et al.

The Journal of International Medical Research, 2020

Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population.

Chatterjee M et al.

International Journal of Molecular and Cellular Medicine, 2020

An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.

Ravegnini G et al.

The Pharmacogenomics Journal, 2019

MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Suzuki A et al.

Bmc Medical Genomics, 2019

31262291 (PubMed )
Supplement: 12920_2019_546_MOESM3_ESM.xlsx › Significant

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Zhang C et al.

Molecular Genetics & Genomic Medicine, 2019

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.

Cai CQ et al.

Italian Journal of Pediatrics, 2019

Medicines associated with folate-homocysteine-methionine pathway disruption.

Vidmar M et al.

Archives of Toxicology, 2019

Polymorphism of reduced folate carrier 1 (A80G) and non-syndromic cleft lip/palate: A systematic review and meta-analysis.

Imani MM et al.

Archives of Oral Biology, 2019

Folate/homocysteine metabolism and lung cancer risk among smokers.

Stanisławska-Sachadyn A et al.

Plos One, 2019

Can the genetic polymorphisms of the folate metabolism have an influence in the polycystic ovary syndrome?

Santos TBD et al.

Archives of Endocrinology and Metabolism, 2019

Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma.

Gohari M et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Do SNPs in folate pharmacokinetic pathway alter levels of intracellular methotrexate polyglutamates and affect response? A prospective study in Indian patients.

Sandhu A et al.

Clinical Rheumatology, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models.

Jenko B et al.

Frontiers in Pharmacology, 2018

Association between SLC19A1 Gene Polymorphism and High Dose Methotrexate Toxicity in Childhood Acute Lymphoblastic Leukaemia and Non Hodgkin Malignant Lymphoma: Introducing a Haplotype based Approach.

Kotnik BF et al.

Radiology and Oncology, 2017

Mutations in folate transporter genes and risk for human myelomeningocele.

Findley TO et al.

American Journal of Medical Genetics. Part A, 2017

Genetic polymorphisms and folate status.

Hiraoka M et al.

Congenital Anomalies, 2017

Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.

Gu Y

Molecular and Clinical Oncology, 2017

Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia.

Liu SG et al.

Oncotarget, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

The study of association between reduced folate carrier 1 (RFC1) polymorphism and non-syndromic cleft lip/palate in Iranian population.

Soghani B et al.

Bioimpacts : Bi, 2017

[Study of polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi].

Liang N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

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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."