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2003 1
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17 results

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Page 1
Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection.
Shenoy S, Deekshit VK, Rao SS, Ashwini PS, Shenoy RD. Shenoy S, et al. J Trop Pediatr. 2024 Aug 10;70(5):fmae030. doi: 10.1093/tropej/fmae030. J Trop Pediatr. 2024. PMID: 39298791 Free article.
Maternal thiamine deficiency is prevalent in low- and middle-income countries. Thiamine-responsive pulmonary hypertension (TRPHTN) in exclusively breastfed infants is reported in India. ...Lactate and pulmonary pressure estimations are useful investigations i …
Maternal thiamine deficiency is prevalent in low- and middle-income countries. Thiamine-responsive pulmonary hypertensi …
[Familial Wernicke's-like encephalopathy].
Miyajima H, Kono S. Miyajima H, et al. Rinsho Shinkeigaku. 2010 Nov;50(11):855-7. doi: 10.5692/clinicalneurol.50.855. Rinsho Shinkeigaku. 2010. PMID: 21921471 Japanese.
Wernicke's encephalopathy is a syndrome characterized by ataxia, ophthalmoplegia, and confusion with thiamine deficiency. We reported on two Japanese brothers with a newly discovered recessively inherited syndrome similar to Wernicke's encephalopathy that developed in the …
Wernicke's encephalopathy is a syndrome characterized by ataxia, ophthalmoplegia, and confusion with thiamine deficiency. We reported …
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.
Fleming JC, Tartaglini E, Kawatsuji R, Yao D, Fujiwara Y, Bednarski JJ, Fleming MD, Neufeld EJ. Fleming JC, et al. Mol Genet Metab. 2003 Sep-Oct;80(1-2):234-41. doi: 10.1016/s1096-7192(03)00141-0. Mol Genet Metab. 2003. PMID: 14567973
Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutations in the high-affinity thiamine transporter gene SLC19A2. ...Contrary to human TRMA syndrome, we see no evidence of me …
Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutatio …
Defects of thiamine transport and metabolism.
Brown G. Brown G. J Inherit Metab Dis. 2014 Jul;37(4):577-85. doi: 10.1007/s10545-014-9712-9. Epub 2014 May 1. J Inherit Metab Dis. 2014. PMID: 24789339 Review.
Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-responsive megaloblastic anaemia and biotin-responsive basal ganglia disease respectively. ...In addition to defects in thiamine …
Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-res …
Hypoxia induced upregulation and function of the thiamine transporter, SLC19A3 in a breast cancer cell line.
Sweet R, Paul A, Zastre J. Sweet R, et al. Cancer Biol Ther. 2010 Dec 1;10(11):1101-11. doi: 10.4161/cbt.10.11.13444. Epub 2010 Dec 1. Cancer Biol Ther. 2010. PMID: 20930543 Free article.
Using a real time PCR array strategy to further characterize changes in transporter expression within a chronic hypoxia breast cancer cell line model (BT474), we have found a 31 fold increase in the expression of the thiamine transporter, SLC19A3. Thus …
Using a real time PCR array strategy to further characterize changes in transporter expression within a chronic hypoxia breast cancer …
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B. Marcé-Grau A, et al. J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. J Inherit Metab Dis. 2019. PMID: 31095747 Review.
Currently, four genetic defects have been described causing impairment of thiamine transport and metabolism: SLC19A2 dysfunction leads to diabetes mellitus, megaloblastic anemia and sensory-neural hearing loss, whereas SLC19A3, SLC25A19, and TPK …
Currently, four genetic defects have been described causing impairment of thiamine transport and metabolism: SLC19A2 …
Role of HIF-1alpha in the hypoxia inducible expression of the thiamine transporter, SLC19A3.
Zera K, Sweet R, Zastre J. Zera K, et al. Gene. 2016 Dec 31;595(2):212-220. doi: 10.1016/j.gene.2016.10.013. Epub 2016 Oct 12. Gene. 2016. PMID: 27743994 Free PMC article.
Ensuring continuous intracellular supply of thiamine is essential to maintain metabolism. Cellular homeostasis requires the function of the membrane bound thiamine transporters THTR1 and THTR2. In the absence of increased dietary intake of thiamine …
Ensuring continuous intracellular supply of thiamine is essential to maintain metabolism. Cellular homeostasis requires the function …
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.
Zhao R, Goldman ID. Zhao R, et al. Mol Aspects Med. 2013 Apr-Jun;34(2-3):373-85. doi: 10.1016/j.mam.2012.07.006. Mol Aspects Med. 2013. PMID: 23506878 Free PMC article. Review.
The reduced folate carrier (RFC, SLC19A1), thiamine transporter-1 (ThTr1, SLC19A2) and thiamine transporter-2 (ThTr2, SLC19A3) evolved from the same family of solute carriers. SLC19A1 transports folates but not thiamine. …
The reduced folate carrier (RFC, SLC19A1), thiamine transporter-1 (ThTr1, SLC19A2) and thiamine transporter …
[Defect of thiamine transport and activation and related disease].
Xian X, Lin F. Xian X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):121-124. doi: 10.3760/cma.j.issn.1003-9406.2018.01.028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29419877 Review. Chinese.
Defects of thiamine transport and activation may cause lack of thiamine and affection of cell metabolism, leading a variety of diseases. This review has summarized defects of thiamine transport and activation and related diseases....
Defects of thiamine transport and activation may cause lack of thiamine and affection of cell metabolism, leading a var …
Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms.
Nabokina SM, Reidling JC, Said HM. Nabokina SM, et al. J Biol Chem. 2005 Sep 23;280(38):32676-82. doi: 10.1074/jbc.M505243200. Epub 2005 Jul 29. J Biol Chem. 2005. PMID: 16055442 Free article.
Up-regulation was associated with a significant increase in the level of expression of hTHTR-1 and hTHTR-2 protein and mRNA as well as in activity of the corresponding transfected human thiamin transporter-1 (SLC19A2) and -2 (SLC19A3) promoters. Deleti …
Up-regulation was associated with a significant increase in the level of expression of hTHTR-1 and hTHTR-2 protein and mRNA as well as in ac …
17 results