Folate Malabsorption, Hereditary
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A family study of congenital malabsorption of folate.
|
11804211 |
2001 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
|
17129779 |
2006 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings further substantiate the role that mutations in PCFT play in the pathogenesis of HFM and will make possible rapid diagnosis and treatment of this disorder in infants, and prenatal diagnosis in families that carry a mutated gene.
|
17446347 |
2007 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
|
17446347 |
2007 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport.
|
18559978 |
2008 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
18559978 |
2008 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
|
18718264 |
2008 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PCFT is critical to intestinal folate absorption and transport into the central nervous system because there are loss-of-function mutations in this gene in the autosomal recessive disorder, hereditary folate malabsorption.
|
19074442 |
2009 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some loss of folic acid (FA) transport mutations in PCFT from hereditary folate malabsorption (HFM) patients cluster in R113, thereby suggesting a functional role for this residue.
|
19508863 |
2009 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT).
|
19740703 |
2009 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
|
20005757 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM.
|
20686069 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.
|
20686069 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.
|
20795774 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.
|
20805364 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.
|
20805364 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
|
21333572 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC).
|
21333572 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this report, we describe a new murine model of the hereditary folate malabsorption syndrome that we developed through targeted disruption of the first 3 coding exons of the murine homolog of the PCFT gene.
|
21346251 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
|
21489556 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.
|
22345511 |
2012 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.
|
22843796 |
2012 |