论文信息 - Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness - 字舞流文

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Timothy Barrett | Hanna Mandel | Adel Shalata | S. Gregory | H. Mandel | T. Raz | T. Barrett | R. Szargel | V. Labay | N. Cohen | Tal Raz | Simon Gregory | A. Shalata | Raymonde Szargel | Kazuto Nosaka | Valentina Labay | Dana Baron | Hawys Williams | Louise McDonald | Nadine Cohen | L. McDonald | K. Nosaka | Hawys B Williams | D. Baron

[1] Ellis J. Neufeld,et al. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter , 1999, Nature Genetics.

[2] B. Gelb,et al. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. , 1999 .

[3] A. Stagg,et al. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. , 1999, The Journal of clinical investigation.

[4] M. Ehm,et al. An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. , 1998, American journal of human genetics.

[5] H. Mandel,et al. Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity , 1998, Human Genetics.

[6] N. Risch,et al. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus , 1998, Nature Genetics.

[7] H. Mandel,et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. , 1997, American journal of human genetics.

[8] Cécile Fizames,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[9] Weissenbach,et al. Genotyping Procedures in Linkage Mapping , 1996, Methods.

[10] L. Matherly,et al. Isolation of Human cDNAs That Restore Methotrexate Sensitivity and Reduced Folate Carrier Activity in Methotrexate Transport-defective Chinese Hamster Ovary Cells (*) , 1995, The Journal of Biological Chemistry.

[11] V. Ganapathy,et al. Molecular cloning of the human placental folate transporter. , 1995, Biochemical and biophysical research communications.

[12] M. Boguski,et al. dbEST — database for “expressed sequence tags” , 1993, Nature Genetics.

[13] E. Myers,et al. Basic local alignment search tool. , 1990, Journal of molecular biology.

[14] H. Mandel,et al. Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome". , 1984, The New England journal of medicine.

[15] J. Sidbury,et al. Thiamine-responsive megaloblastic anemia , 1969 .