The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
about
Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondriaMolecular characterization of a specific thiamine triphosphatase widely expressed in mammalian tissuesTspan-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 linesMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaPancreatic 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 p53Perinatal thiamine deficiency causes cochlear innervation abnormalities in mice.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.Many faces of monogenic diabetesIntestinal absorption of water-soluble vitamins in health and diseaseA 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.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.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.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.Membrane 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.Association of TM4SF4 with the human thiamine transporter-2 in intestinal epithelial cellsA novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex IMolecular mechanisms of mitochondrial diabetes (MIDD).Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
P2860
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P2860
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
description
1999 nî lūn-bûn
@nan
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
1999年论文
@zh
1999年论文
@zh-cn
name
The gene mutated in thiamine-r ...... nctional thiamine transporter.
@en
type
label
The gene mutated in thiamine-r ...... nctional thiamine transporter.
@en
prefLabel
The gene mutated in thiamine-r ...... nctional thiamine transporter.
@en
P2093
P356
P1433
P1476
The gene mutated in thiamine-r ...... nctional thiamine transporter.
@en
P2093
Fleming JC
Neufeld EJ
Schorderet DF
Steinkamp MP
Tartaglini E
P2888
P304
P356
10.1038/10379
P407
P577
1999-07-01T00:00:00Z
P6179
1002062886