Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 1, 2001, Pages 135-138

  Neufeld, Ellis J ^a   Fleming, Judith C ^a   Tartaglini, Elena ^a   Steinkamp, Mara P ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; MEMBRANE PROTEIN; PROTEIN SLC19A2; THIAMINE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; GENE MAPPING; HUMAN; HUMAN CELL; MEGALOBLASTIC ANEMIA; MOLECULAR CLONING; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; TRANSPORT KINETICS;

EID: 0035053717     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0356     Document Type: Article

References (22)

1. Localization of the gene for thiamin-responsive megaloblastic anemia syndrome on the long arm of chromosome 1 by homozygosity mapping
2. Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
3. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23
4. Thiamin-responsive megaloblastic anaemia: A disorder of thiamin transport?
5. Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia
6. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia
7. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
8. The gene mutated in thiamine-responsive anemia with diabetes and deafness (TRMA), encodes a functional thiamine transporter
9. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
10. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome
11. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families
12. Cloning of the human thiamine transporter, a member of the folate transporter family
13. Impact of the reduced folate carrier on the accumulation of thiamin metabolites in murine leukemia cells
14. Characterization of a novel member (SLC19A3) of the reduced folate carrier (SLC19A1) and thiamine transporter (SLC19A2) family
15. Thiamine-responsive myelodysplasia
16. Thiamine responsive anaemia: A study of two further cases
17. 2] glucose
18. Thiamine depletion in thiamine-responsive megaloblastic anemia (TRMA) mutant fibroblasts leads to a reduction in non-oxidative ribose synthesis
19. Studies of ribose metabolism. I. The pathway of nucleic acid synthesis in a human carcinoma cell in tissue culture
20. Thiamine intestinal transport and related issues: Recent aspects
21. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
22. A novel mutation in slc19a2 gene in a Tunisian family with thiamine-responsive megaloblastic anemia, diabetes, and deafness syndrome