(Q37451181)

20 August 2017

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption (English)

1 reference

20 August 2017

1 reference

1 reference

Berna Atabay

1

1 reference

20 August 2017

Meral Turker

2

1 reference

20 August 2017

Esra Arun Ozer

3

1 reference

20 August 2017

Kris Mahadeo

4

1 reference

20 August 2017

Ndeye Diop-Bove

5

1 reference

20 August 2017

I. David Goldman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

2 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20795774

2 July 2024

publication date

1 November 2010

1 reference

full work available at URL

20 August 2017

https://europepmc.org/articles/pmc3885236?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20795774/pdf/?tool=EBI

2 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20795774/?tool=EBI

2 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

https://europepmc.org/articles/PMC3885236

2 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

https://europepmc.org/articles/PMC3885236?pdf=render

2 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

https://doi.org/10.3109/08880018.2010.481705

2 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20795774

http://www.tandfonline.com/doi/pdf/10.3109/08880018.2010.481705

2 July 2024

1 reference

10.3109/08880018.2010.481705

Crossref

DOI

https://api.crossref.org/works/10.3109/08880018.2010.481705

Pediatric Hematology and Oncology

2 July 2024

published in

1 reference

20 August 2017

27

1 reference

20 August 2017

8

1 reference

20 August 2017

614-619

1 reference

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Role of the glutamate 185 residue in proton translocation mediated by the proton-coupled folate transporter SLC46A1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

The functional roles of the His247 and His281 residues in folate and proton translocation mediated by the human proton-coupled folate transporter SLC46A1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Cloning and functional characterization of the proton-coupled electrogenic folate transporter and analysis of its expression in retinal cell types

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Rodent intestinal folate transporters (SLC46A1): secondary structure, functional properties, and response to dietary folate restriction.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Identification of an intestinal heme transporter

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Hereditary folate malabsorption: family report and review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Therapy of congenital folate malabsorption

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Characterization of folate uptake by choroid plexus epithelial cells in a rat primary culture model

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

A family study of congenital malabsorption of folate

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885236

Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20795774

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term treatment of congenital folate malabsorption

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20795774

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3109/08880018.2010.481705

1 reference

20 August 2017

1 reference

20 August 2017

1 reference