Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
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Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondriaThe Fowler syndrome-associated protein FLVCR2 is an importer of hemeTspan-1 interacts with the thiamine transporter-1 in human intestinal epithelial cells and modulates its stabilityBiotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell linesRestoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier functionThe evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparationsVitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulationMitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate.Recent advances in transport of water-soluble vitamins in organs of the digestive system: a focus on the colon and the pancreasThiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhoodBiotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanismsCharacterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studiesTargeting and trafficking of the human thiamine transporter-2 in epithelial cellsMolecular cloning and expression of a mouse thiamin pyrophosphokinase cDNAImpaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient miceIdentification of a mouse thiamine transporter gene as a direct transcriptional target for p53Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.The Concise Guide to PHARMACOLOGY 2013/14: transporters.Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.Cerebellar nocardiosis and myopathy from long-term corticosteroids for idiopathic thrombocytopenia.Intestinal absorption of water-soluble vitamins in health and diseaseEvidence for altered thiamine metabolism in diabetes: Is there a potential to oppose gluco- and lipotoxicity by rational supplementation?A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells.Thiamine intestinal transport and related issues: recent aspects.Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Thiamine pyrophosphate biosynthesis and transport in the nematode Caenorhabditis elegans.A putative thiamine transport protein is a receptor for feline leukemia virus subgroup AMembrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
P2860
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P2860
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@ast
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@en
type
label
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@ast
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@en
prefLabel
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@ast
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@en
P2093
P356
P1433
P1476
Mutations in a new gene encodi ...... egaloblastic anaemia syndrome.
@en
P2093
P2888
P304
P356
10.1038/10385
P407
P577
1999-07-01T00:00:00Z
P5875
P6179
1041657645