|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder.
|
20857335 |
2010 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency.
|
22586289 |
2012 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development.
|
21752681 |
2011 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
|
19732866 |
2009 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders.
|
29661558 |
2018 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430).
|
27328863 |
2016 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders.
|
30916789 |
2019 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
A diagnosis of cerebral folate deficiency was confirmed by a homozygous c.466T>G (p.W156G) mutation in FOLR1, coupled with extremely low cerebrospinal fluid levels of 5-methyltetrahydrofolate.
|
27743887 |
2017 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
Folate receptor alpha (FRα) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders.
|
27646260 |
2017 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Several experimental studies in mice and human epidemiological and genetics studies have suggested that folate receptor abnormalities are involved in a portion of human NTDs, although the solo defect of FOLR1 did not cause NTD.
|
28244241 |
2017 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This study, though preliminary, provides the first genetic association between molecular variations of the FRalpha gene and NTDs and suggests that this gene can act as a risk factor for human NTD.
|
11102926 |
2000 |
|
Neural Tube Defects
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Furthermore, doubly heterozygous mouse embryos lacking one copy each of Shroom3 and Folr1 exhibit a low rate of neural tube defects and also have lower levels of activated myosin light chain and MLCK.
|
30670450 |
2019 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Using a Midwestern NTD population consisting of probands, parents, and siblings from Iowa, Minnesota, and Nebraska, we analyzed a range of candidate genes, including 5,10-methylenetetrahydrofolate reductase (MTHFR), folate receptors-alpha (FOLR1; hereafter abbreviated "FR-alpha") and -beta (FOLR2; hereafter, "FR-beta"), methionine synthase (hereinafter, "MS"), T, the human homolog of the murine Brachyury gene, and the paired-box homeotic gene 3 (PAX3), for association with NTDs.
|
10332959 |
1999 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Folate binding protein 1 (Folr1) knockout mice with low maternal folate concentrations have been shown to be excellent animal models for human folate-responsive neural tube defects (NTDs).
|
16256389 |
2006 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Folr1 knockdown in neural plate cells only is necessary and sufficient to induce NTDs.
|
28255006 |
2017 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
It is unlikely that the beneficial effects of maternal folate supplementation in preventing NTDs acts through a mechanism involving pharmacological correction of a variant form of folate receptor alpha.
|
9545095 |
1998 |
|
Neural Tube Defects
|
0.400 |
AlteredExpression
|
group |
BEFREE |
In NTDs, there was an adaptive up-regulation of folate transporters mainly reduced folate carrier (p < 0.001) and folate receptor alpha (p < 0.001).
|
30941645 |
2019 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Folates and FOLR1 are established modifiers of risk for neural tube defects, and binding data indicates DTG is a partial antagonist of FOLR1.
|
31259764 |
2019 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We suggest that T-DMRs participate in the regulation of expression of the FOLR1 and RFC1 genes, that the RFC1 80G > A polymorphism exerts a gene-nutrition interaction on DNA methylation in the RFC1 gene, and that this interaction appears to be most prominent in NTD-affected births and in subjects with high tHcy concentrations.
|
23417011 |
2013 |
|
ovarian neoplasm
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Folate binding protein(FBP) is an immunogenic protein over-expressed in endometrial(EC) and ovarian cancer(OC).
|
27852036 |
2017 |
|
ovarian neoplasm
|
0.400 |
Biomarker
|
disease |
BEFREE |
Folate-binding protein is a marker for ovarian cancer.
|
1717147 |
1991 |
|
ovarian neoplasm
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The objective of this study was to measure the levels of FOLR1 and Dkk-3 in the serum of patients with ovarian cancer, benign gynecological conditions and healthy women.
|
23528302 |
2013 |
|
ovarian neoplasm
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
(2) FOLR1 expression was decreased in platinum drug-resistant ovarian tumors compared to sensitive tumors (P < 0.01).
|
29433550 |
2018 |
|
ovarian neoplasm
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our previous identification of degenerate HLA-class II epitopes from human FR led to the development of a broad coverage epitope pool potentially useful in augmenting antigen-specific immune responses in most patients.<b>Patients and Methods:</b> We conducted a phase I clinical trial testing safety and immunogenicity of this vaccine, enrolling patients with ovarian cancer or breast cancer who completed conventional treatment and who showed no evidence of disease.
|
29545464 |
2018 |
|
ovarian neoplasm
|
0.400 |
Biomarker
|
disease |
BEFREE |
A Single-Agent Dual-Specificity Targeting of FOLR1 and DR5 as an Effective Strategy for Ovarian Cancer.
|
30107179 |
2018 |