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Items: 1 to 20 of 34

1.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

2.

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.

Cao B, Gong C, Wu D, Lu C, Liu F, Liu X, Zhang Y, Gu Y, Qi Z, Li X, Liu M, Li W, Su C, Liang X, Feng M.

J Diabetes Res. 2016;2016:6314368. doi: 10.1155/2016/6314368. Epub 2015 Dec 29.

3.

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.

Tahir S, Leijssen LG, Sherif M, Pereira C, Morais A, Hussain K.

Int J Pediatr Endocrinol. 2015;2015(1):6. doi: 10.1186/s13633-015-0002-6. Epub 2015 Apr 15.

4.

The physiological role of drug transporters.

Liang Y, Li S, Chen L.

Protein Cell. 2015 May;6(5):334-50. doi: 10.1007/s13238-015-0148-2. Epub 2015 Mar 24. Review.

5.

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.

6.

Genetic implication of a novel thiamine transporter in human hypertension.

Zhang K, Huentelman MJ, Rao F, Sun EI, Corneveaux JJ, Schork AJ, Wei Z, Waalen J, Miramontes-Gonzalez JP, Hightower CM, Maihofer AX, Mahata M, Pastinen T, Ehret GB; International Consortium for Blood Pressure Genome-Wide Association Studies, Schork NJ, Eskin E, Nievergelt CM, Saier MH Jr, O'Connor DT.

J Am Coll Cardiol. 2014 Apr 22;63(15):1542-55. doi: 10.1016/j.jacc.2014.01.007. Epub 2014 Feb 5.

7.
8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.

Reidling JC, Lambrecht N, Kassir M, Said HM.

Gastroenterology. 2010 May;138(5):1802-9. doi: 10.1053/j.gastro.2009.10.042. Epub 2009 Oct 29.

19.

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].

20.

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.

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