Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.
about
Recent advances in treatment of severe primary immunodeficienciesDrug treatment of inborn errors of metabolism: a systematic reviewBiology of the major facilitative folate transporters SLC19A1 and SLC46A1Genetics of SCIDSubstituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionMembrane topological analysis of the proton-coupled folate transporter (PCFT-SLC46A1) by the substituted cysteine accessibility method.Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorptionPrevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.Mechanisms of membrane transport of folates into cells and across epithelia.Identification and functional impact of homo-oligomers of the human proton-coupled folate transporter.The human proton-coupled folate transporter: Biology and therapeutic applications to cancer.Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) DeficiencyVulnerability of the cysteine-less proton-coupled folate transporter (PCFT-SLC46A1) to mutational stress associated with the substituted cysteine accessibility method.Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorptionRandom mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of functionThe genetic basis of severe combined immunodeficiency and its variants.Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.Genetic and epigenomic footprints of folate.Inborn errors of metabolism underlying primary immunodeficiencies.Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
P2860
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P2860
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Reversible severe combined imm ...... on-coupled folate transporter.
@ast
Reversible severe combined imm ...... on-coupled folate transporter.
@en
type
label
Reversible severe combined imm ...... on-coupled folate transporter.
@ast
Reversible severe combined imm ...... on-coupled folate transporter.
@en
prefLabel
Reversible severe combined imm ...... on-coupled folate transporter.
@ast
Reversible severe combined imm ...... on-coupled folate transporter.
@en
P2093
P2860
P1433
P1476
Reversible severe combined imm ...... on-coupled folate transporter.
@en
P2093
Anke K Bergmann
Arturo Borzutzky
Brian Crompton
Ellis J Neufeld
Luigi D Notarangelo
Madelena Martin
Sachin Baxi
Silvia Giliani
P2860
P304
P356
10.1016/J.CLIM.2009.08.006
P577
2009-09-09T00:00:00Z