Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 28

Cited In for PubMed (Select 10391221)

1.

Many faces of monogenic diabetes.

Schwitzgebel VM.

J Diabetes Investig. 2014 Mar 23;5(2):121-33. doi: 10.1111/jdi.12197. Epub 2014 Feb 24. Review.

2.
3.

Treatable Leigh-like encephalopathy presenting in adolescence.

Fassone E, Wedatilake Y, DeVile CJ, Chong WK, Carr LJ, Rahman S.

BMJ Case Rep. 2013 Oct 7;2013:200838. doi: 10.1136/bcr-2013-200838.

4.

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.

Ghaemi N, Ghahraman M, Abbaszadegan MR, Baradaran-Heravi A, Vakili R.

J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):199-201. doi: 10.4274/Jcrpe.969.

5.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG.

BMC Pediatr. 2013 Aug 27;13:130. doi: 10.1186/1471-2431-13-130.

6.

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.

Kaneko K, Furuyama K, Fujiwara T, Kobayashi R, Ishida H, Harigae H, Shibahara S.

Haematologica. 2014 Feb;99(2):252-61. doi: 10.3324/haematol.2013.085449. Epub 2013 Aug 9.

7.

Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.

Zhao R, Goldman ID.

Mol Aspects Med. 2013 Apr-Jun;34(2-3):373-85. doi: 10.1016/j.mam.2012.07.006. Review.

8.

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W.

Am J Hum Genet. 2011 Dec 9;89(6):806-12. doi: 10.1016/j.ajhg.2011.11.007.

9.

Intestinal absorption of water-soluble vitamins in health and disease.

Said HM.

Biochem J. 2011 Aug 1;437(3):357-72. doi: 10.1042/BJ20110326. Review.

10.

Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?

Akın L, Kurtoğlu S, Kendirci M, Akın MA, Karakükçü M.

J Clin Res Pediatr Endocrinol. 2011;3(1):36-9. doi: 10.4274/jcrpe.v3i1.08. Epub 2011 Feb 23.

11.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N.

BMC Med Genet. 2010 Dec 22;11:171. doi: 10.1186/1471-2350-11-171.

12.

The Fowler syndrome-associated protein FLVCR2 is an importer of heme.

Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS.

Mol Cell Biol. 2010 Nov;30(22):5318-24. doi: 10.1128/MCB.00690-10. Epub 2010 Sep 7.

13.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. Erratum in: J Clin Endocrinol Metab. 2010 Mar;95(3):1480. Tukkahrman, Doga [corrected to Turkkahraman, Doga].

14.

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ.

J Pediatr. 2009 Dec;155(6):888-892.e1. doi: 10.1016/j.jpeds.2009.06.017. Epub 2009 Jul 29.

15.

Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.

Mee L, Nabokina SM, Sekar VT, Subramanian VS, Maedler K, Said HM.

Am J Physiol Gastrointest Liver Physiol. 2009 Jul;297(1):G197-206. doi: 10.1152/ajpgi.00092.2009. Epub 2009 May 7.

16.

Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.

Zhao R, Matherly LH, Goldman ID.

Expert Rev Mol Med. 2009 Jan 28;11:e4. doi: 10.1017/S1462399409000969. Review.

17.

Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.

Subramanian VS, Mohammed ZM, Molina A, Marchant JS, Vaziri ND, Said HM.

J Physiol. 2007 Jul 1;582(Pt 1):73-85. Epub 2007 Apr 26.

18.

Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.

Liberman MC, Tartaglini E, Fleming JC, Neufeld EJ.

J Assoc Res Otolaryngol. 2006 Sep;7(3):211-7. Epub 2006 Apr 27.

19.

A putative thiamine transport protein is a receptor for feline leukemia virus subgroup A.

Mendoza R, Anderson MM, Overbaugh J.

J Virol. 2006 Apr;80(7):3378-85.

20.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26. Epub 2005 May 3.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk