These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 12065289)

  • 1. Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.
    Balamurugan K; Said HM
    Am J Physiol Gastrointest Liver Physiol; 2002 Jul; 283(1):G37-43. PubMed ID: 12065289
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of a murine high-affinity thiamine transporter, Slc19a2.
    Fleming JC; Steinkamp MP; Kawatsuji R; Tartaglini E; Pinkus JL; Pinkus GS; Fleming MD; Neufeld EJ
    Mol Genet Metab; 2001; 74(1-2):273-80. PubMed ID: 11592824
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
    Raz T; Labay V; Baron D; Szargel R; Anbinder Y; Barrett T; Rabl W; Viana MB; Mandel H; Baruchel A; Cayuela JM; Cohen N
    Hum Mutat; 2000; 16(1):37-42. PubMed ID: 10874303
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.
    Oishi K; Hirai T; Gelb BD; Diaz GA
    Mol Genet Metab; 2001 Jun; 73(2):149-59. PubMed ID: 11386850
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
    Diaz GA; Banikazemi M; Oishi K; Desnick RJ; Gelb BD
    Nat Genet; 1999 Jul; 22(3):309-12. PubMed ID: 10391223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
    Labay V; Raz T; Baron D; Mandel H; Williams H; Barrett T; Szargel R; McDonald L; Shalata A; Nosaka K; Gregory S; Cohen N
    Nat Genet; 1999 Jul; 22(3):300-4. PubMed ID: 10391221
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
    Fleming JC; Tartaglini E; Steinkamp MP; Schorderet DF; Cohen N; Neufeld EJ
    Nat Genet; 1999 Jul; 22(3):305-8. PubMed ID: 10391222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.
    Neufeld EJ; Fleming JC; Tartaglini E; Steinkamp MP
    Blood Cells Mol Dis; 2001; 27(1):135-8. PubMed ID: 11358373
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
    Subramanian VS; Marchant JS; Said HM
    Clin Sci (Lond); 2007 Jul; 113(2):93-102. PubMed ID: 17331069
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
    Onal H; Bariş S; Ozdil M; Yeşil G; Altun G; Ozyilmaz I; Aydin A; Celkan T
    Turk J Pediatr; 2009; 51(3):301-4. PubMed ID: 19817279
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
    Srikrupa NN; Meenakshi S; Arokiasamy T; Murali K; Soumittra N
    Ophthalmic Genet; 2014 Jun; 35(2):119-24. PubMed ID: 23638917
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.
    Aycan Z; Baş VN; Cetinkaya S; Ağladioğlu SY; Kendirci HN; Senocak F
    J Pediatr Hematol Oncol; 2011 Mar; 33(2):144-7. PubMed ID: 21285901
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
    Enogieru OJ; Koleske ML; Vora B; Ngo H; Yee SW; Chatad D; Sirota M; Giacomini KM
    AAPS J; 2021 Mar; 23(2):35. PubMed ID: 33649974
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
    Baron D; Assaraf YG; Cohen N; Aronheim A
    Mol Med; 2002 Aug; 8(8):462-74. PubMed ID: 12435857
    [TBL] [Abstract][Full Text] [Related]  

  • 15. First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
    Pomahačová R; Zamboryová J; Sýkora J; Paterová P; Fiklík K; Votava T; Černá Z; Jehlička P; Lád V; Šubrt I; Dort J; Dortová E
    Pediatr Diabetes; 2017 Dec; 18(8):844-847. PubMed ID: 28004468
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.
    Thameem F; Wolford JK; Bogardus C; Prochazka M
    Mol Genet Metab; 2001 Apr; 72(4):360-3. PubMed ID: 11286512
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
    Baron D; Assaraf YG; Drori S; Aronheim A
    Eur J Biochem; 2003 Nov; 270(22):4469-77. PubMed ID: 14622275
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
    Ricketts CJ; Minton JA; Samuel J; Ariyawansa I; Wales JK; Lo IF; Barrett TG
    Acta Paediatr; 2006 Jan; 95(1):99-104. PubMed ID: 16373304
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
    Shaw-Smith C; Flanagan SE; Patch AM; Grulich-Henn J; Habeb AM; Hussain K; Pomahacova R; Matyka K; Abdullah M; Hattersley AT; Ellard S
    Pediatr Diabetes; 2012 Jun; 13(4):314-21. PubMed ID: 22369132
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.
    Olsen BS; Hahnemann JM; Schwartz M; Østergaard E
    Pediatr Diabetes; 2007 Aug; 8(4):239-41. PubMed ID: 17659067
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.