Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2007 1
2008 1
2009 2
2010 2
2011 3
2012 1
2013 2
2014 2
2015 1
2016 8
2017 7
2018 4
2019 3
2020 3
2021 4
2022 1
2023 6
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Results by year

Filters applied: . Clear all
Page 1
Reduced YAP1 and FOLR1 in gliomas predict better response to chemotherapeutics.
Patrick S, Lathoria K, Suri V, Sen E. Patrick S, et al. Cell Signal. 2023 Sep;109:110738. doi: 10.1016/j.cellsig.2023.110738. Epub 2023 Jun 1. Cell Signal. 2023. PMID: 37269960
TCGA (The Cancer Genome Atlas) data analysis demonstrated better patient survival with reduced FOLR1 expression. Depletion of FOLR1 rendered IDH1 wild-type gliomas more susceptible to temozolomide-mediated death. ...This study also highlights the novel role of FO …
TCGA (The Cancer Genome Atlas) data analysis demonstrated better patient survival with reduced FOLR1 expression. Depletion of FOLR …
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomye …
BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathoge …
Expression of genes FOLR1, BAG1 and LAPTM4B in functioning and non-functioning pituitary adenomas.
Larysz D, Zebracka-Gala J, Rudnik A, Hasse-Lazar K, Kowalska M, Jarząb M, Król A, Szpak-Ulczok S, Bażowski P, Jarząb B. Larysz D, et al. Folia Neuropathol. 2012;50(3):277-86. doi: 10.5114/fn.2012.30528. Folia Neuropathol. 2012. PMID: 23023342 Free article.
The expression of FOLR1 in all tumours (functioning and non-functioning) was higher in older patients (over 50 years of age) (p = 0.018). ...CONCLUSIONS: Among pituitary adenomas, the highest level of expression FOLR1 is seen in NFA which are negative by immunohisto …
The expression of FOLR1 in all tumours (functioning and non-functioning) was higher in older patients (over 50 years of age) (p = 0.0 …
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV. Ramaekers VT, et al. Nutrients. 2022 Jul 28;14(15):3096. doi: 10.3390/nu14153096. Nutrients. 2022. PMID: 35956272 Free PMC article. Review.
The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRalpha) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss …
The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRalpha) autoantibodies impairing folate transport a …
Cerebral folate deficiency.
Hyland K, Shoffner J, Heales SJ. Hyland K, et al. J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29. J Inherit Metab Dis. 2010. PMID: 20668945 Review.
Generation of autoantibodies against the folate receptor required to transport 5MTHF into CSF and mutations in the folate receptor 1 (FOLR1) gene have been reported to be causes of CFD. However, other mechanisms are probably also involved, as CFD has been reported in Aicar …
Generation of autoantibodies against the folate receptor required to transport 5MTHF into CSF and mutations in the folate receptor 1 (FOL …
Mutations in exons 2 and 3 of the FOLR1 gene in demented and non-demented elderly subjects.
Böttiger AK, Hagnelius NO, Nilsson TK. Böttiger AK, et al. Int J Mol Med. 2007 Nov;20(5):653-62. Int J Mol Med. 2007. PMID: 17912458
The two common polymorphisms, FOLR1 g. 1314G>A and g.1928C>T seemed not to raise tHcy plasma levels, whereas the double-mutated g.1816(-)-g.1841A haplotype may possibly have a slight tHcy-raising effect. Thus, so far 8 novel rare FOLR1 mutations with a combine …
The two common polymorphisms, FOLR1 g. 1314G>A and g.1928C>T seemed not to raise tHcy plasma levels, whereas the double-mutated …
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P. Brunetti S, et al. Am J Med Genet A. 2021 Aug;185(8):2526-2531. doi: 10.1002/ajmg.a.62345. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008900
Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings. We describe three siblings carrying a novel homozygous FOLR1 nonsense mutation, that were referred due to intra …
Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance im …
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
Ortigoza Escobar JD, Pérez Dueñas B. Ortigoza Escobar JD, et al. Semin Pediatr Neurol. 2016 Nov;23(4):341-350. doi: 10.1016/j.spen.2016.11.008. Epub 2016 Nov 9. Semin Pediatr Neurol. 2016. PMID: 28284395 Review.
SLC19A1 transports folate and SLC19A2 and SLC19A3 transport thiamine. PCFT and FOLR1 ensure intestinal absorption and transport of folate through the blood-brain barrier and SLC19A25 transports thiamine into the mitochondria. ...
SLC19A1 transports folate and SLC19A2 and SLC19A3 transport thiamine. PCFT and FOLR1 ensure intestinal absorption and transport of fo …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial oxidative phosphorylation system, serine deficiency, and pyridoxine dependent epilepsy. ...
Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial …
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Bariş S, Kırık S, Balasar Ö. Bariş S, et al. Rev Assoc Med Bras (1992). 2023 Oct 9;69(10):e20230547. doi: 10.1590/1806-9282.20230547. eCollection 2023. Rev Assoc Med Bras (1992). 2023. PMID: 37820178 Free PMC article.
RESULTS: Targeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 DBH, 2 DOCK7, 1 FOLR1, 2 GABRB3, 2 GCH1, 1 VGRIN2B, 1 GUF1, 3 KCNQ2, 2 KCNT1, 1 NECAP1, 1 PCDH19, 1 PNPO, 1 SCN8A, 1 SCN9A, 4 SCN1A, …
RESULTS: Targeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 …
46 results