Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
about
The Fowler syndrome-associated protein FLVCR2 is an importer of hemeGenetic implication of a novel thiamine transporter in human hypertension.Biotin-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 functionPancreatic 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.Thiamine-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 p53Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in ChinaX-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.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.Molecular basis of autosomal recessive diseases among the Palestinian Arabs.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?EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.A 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 IThe physiological role of drug transporters.Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayDifferential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.Treatable Leigh-like encephalopathy presenting in adolescence.
P2860
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P2860
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
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 SLC19A2 cause thi ...... diabetes mellitus and deafness
@ast
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@en
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@nl
type
label
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@ast
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@en
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@nl
prefLabel
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@ast
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@en
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@nl
P2093
P356
P1433
P1476
Mutations in SLC19A2 cause thi ...... diabetes mellitus and deafness
@en
P2093
H Williams
L McDonald
P2888
P356
10.1038/10372
P407
P577
1999-07-01T00:00:00Z