Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.
about
Biology of the major facilitative folate transporters SLC19A1 and SLC46A1Substituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.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.Delineating the extracellular water-accessible surface of the proton-coupled folate transporter.Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) DeficiencyIdentification 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 major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.Genetic and epigenomic footprints of folate.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.Experimentally optimized threading structures of the proton-coupled folate transporter.Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing.
P2860
Q26998717-70588D29-62E9-418E-B36E-EFADF59CE8D7Q30365011-72E7DE6D-293A-443F-8A8F-A2C021879ECBQ34129760-CB27586F-94B9-40C0-9A1B-F785E2617328Q34178003-1DBEAA19-BD25-4C42-9FDB-149CFEC743EDQ34184787-5C943F82-3839-43C3-BDDF-C43073A9C602Q34241413-3FE33138-EE07-4A03-A543-8FD8338DBFBDQ34297931-89B406CD-2CD2-491F-8CDD-D6F425D7D58EQ34383616-B1EBD199-1824-4862-9D1A-12402A5341A5Q34450436-BF50486B-FD37-4B51-9DAC-8FC35319C1EAQ34477752-58F78C1A-35C7-4B0D-8CEE-8AAEF7488FDDQ34851106-7578B164-446B-4DE6-B3EC-50114DB85CE2Q35085104-7217E0DD-A881-4500-A4EF-6129A917DEE6Q37663377-FF8D8420-9214-4821-BDF5-5C6BC1E7C38BQ37689132-F458BB1E-B955-4CD1-B5DC-48D2B370515FQ38689943-9A00D8D0-27E9-4F2E-AE3D-9FC2FCE7FF5DQ38963604-6CF2F8D4-7CED-457C-AF65-59D02168D6AFQ39065236-7C550AA6-8E0B-4097-A49A-0CACCDC48017Q40377263-80824731-4DDB-4062-969F-F4E2A0E355AE
P2860
Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Mutation of the proton-coupled ...... reditary folate malabsorption.
@en
Mutation of the proton-coupled folate transporter gene
@nl
type
label
Mutation of the proton-coupled ...... reditary folate malabsorption.
@en
Mutation of the proton-coupled folate transporter gene
@nl
prefLabel
Mutation of the proton-coupled ...... reditary folate malabsorption.
@en
Mutation of the proton-coupled folate transporter gene
@nl
P2093
P2860
P1476
Mutation of the proton-coupled ...... reditary folate malabsorption.
@en
P2093
Berna Atabay
Esra Arun Ozer
I David Goldman
Kris Mahadeo
Meral Turker
Ndeye Diop-Bove
P2860
P304
P356
10.3109/08880018.2010.481705
P577
2010-11-01T00:00:00Z