|
Hypertensive disease
|
0.010 |
PosttranslationalModification
|
group |
BEFREE |
MTHFD1 promoter hypermethylation increases the risk of hypertension.
|
30183434 |
2019 |
|
Immunologic Deficiency Syndromes
|
0.010 |
Biomarker
|
group |
BEFREE |
The recently identified MTHFD1 defect additionally presents with severe immune deficiency.
|
30761552 |
2019 |
|
Male infertility
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The chi-square test was used to determine the association between MTHFD1 G1958A polymorphism and male infertility, using SPSS software.P?0.05 was considered significant.
|
30882176 |
2019 |
|
Essential Hypertension
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
The area under the curve (AUC) of MTHFD1 promoter methylation was 0.739 in total patients with essential hypertension.
|
30183434 |
2019 |
|
Acute leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The mRNA expression levels of RFC1, MS, MTRR, MTHFR and ABCB1 were decreased (P<0.05), while those of GGH, FPGS, TS and MTHFD1 (P<0.05) were overexpressed in patients with AL.
|
31452789 |
2019 |
|
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
<b>Conclusion:</b> High MTHFD1 expression in HCC indicated poorer prognosis.
|
30997850 |
2019 |
|
Esophageal Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109).
|
29171320 |
2018 |
|
Neoplasm Metastasis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
The expression level of MTHFD1 was related to tumor size, TNM stage, histologic grade, and metastasis, but not linked to gender and age.
|
30343310 |
2018 |
|
B-Cell Lymphomas
|
0.010 |
AlteredExpression
|
group |
BEFREE |
When cells were transfected with MTHFD1-siRNA, the levels of surviving and B-cell lymphoma-2 (Bcl-2) were attenuated, while p53 and Bcl-2 associated X protein (Bax) levels were enhanced.
|
30343310 |
2018 |
|
Esophageal carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109).
|
29171320 |
2018 |
|
Exfoliation Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.
|
28299500 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RESULTS MTHFD1 mRNA and protein levels in CCRCC tumor tissues were significantly lower compared with adjacent normal renal tissue.
|
30459299 |
2018 |
|
Malignant neoplasm of esophagus
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109).
|
29171320 |
2018 |
|
Carcinogenesis
|
0.010 |
PosttranslationalModification
|
phenotype |
BEFREE |
Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is involved in DNA methylation, and DNA methylation is related to tumorigenesis.
|
30343310 |
2018 |
|
Dysmorphism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis.
|
29659962 |
2018 |
|
Colorectal Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors.
|
27597531 |
2017 |
|
Immune System Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency.
|
27707659 |
2017 |
|
Deformity
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions.
|
28398708 |
2017 |
|
Combined immunodeficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exome sequencing demonstrated MTHFD1 deficiency as a novel cause of a combined immunodeficiency.
|
27707659 |
2017 |
|
Megaloblastic anemia, secondary
|
0.010 |
Biomarker
|
disease |
BEFREE |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
|
27707659 |
2017 |
|
Attention deficit hyperactivity disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 &rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD.
|
28250422 |
2017 |
|
Anterior encephalocele
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population.
|
28398708 |
2017 |
|
Anencephaly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01).
|
26394717 |
2016 |
|
Mental Depression
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the MTHFD1L gene, and thus the C1-THF synthase enzyme of the folate pathway localized in mitochondria, has an important effect on the pathophysiology of depression through rumination, and maybe via this cognitive intermediate phenotype on other mental and physical disorders.
|
26926881 |
2016 |
|
Depressive disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the MTHFD1L gene, and thus the C1-THF synthase enzyme of the folate pathway localized in mitochondria, has an important effect on the pathophysiology of depression through rumination, and maybe via this cognitive intermediate phenotype on other mental and physical disorders.
|
26926881 |
2016 |