-
1
-
-
0014493303
-
Thiamine-responsive megaloblastic anemia
-
Rogers, L.E., Porter, F.S. & Sidbury, J.B.J. Thiamine-responsive megaloblastic anemia. J. Pediatr. 74, 494-504 (1969).
-
(1969)
J. Pediatr.
, vol.74
, pp. 494-504
-
-
Rogers, L.E.1
Porter, F.S.2
Sidbury, J.B.J.3
-
2
-
-
0021636039
-
Thiamin-responsive megaloblastic anemia: A disorder of thiamin transport?
-
Poggi, V. et al. Thiamin-responsive megaloblastic anemia: a disorder of thiamin transport? J. Inherit. Metab. Dis. 7 (suppl. 2), 153-154 (1984).
-
(1984)
J. Inherit. Metab. Dis.
, vol.7
, Issue.SUPPL. 2
, pp. 153-154
-
-
Poggi, V.1
-
3
-
-
0026562364
-
Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anemia
-
Rindi, G. et al. Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anemia. J. Inherit. Metab. Dis. 15, 231-242 (1992).
-
(1992)
J. Inherit. Metab. Dis.
, vol.15
, pp. 231-242
-
-
Rindi, G.1
-
4
-
-
17344368928
-
Localization of the gene for thiamine-responsive anemia syndrome on the long arm of chromosome 1 by homozygosity mapping
-
Neufeld, E.J. et al. Localization of the gene for thiamine-responsive anemia syndrome on the long arm of chromosome 1 by homozygosity mapping. Am. J. Hum. Genet. 61, 1335-1341 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1335-1341
-
-
Neufeld, E.J.1
-
5
-
-
0031752473
-
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
-
Raz, T. et al. Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. Hum. Genet. 103, 455-461 (1998).
-
(1998)
Hum. Genet.
, vol.103
, pp. 455-461
-
-
Raz, T.1
-
6
-
-
0032810357
-
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23
-
Banikazemi, M. et al. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol. Genet. Metab. 66, 193-198 (1999).
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 193-198
-
-
Banikazemi, M.1
-
7
-
-
0032990411
-
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness
-
Labay, V. et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness. Nature Genet. 22, 300-304 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 300-304
-
-
Labay, V.1
-
8
-
-
0033105776
-
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
-
Stagg, A.R. et al. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J. Clin. Invest. 103, 723-729 (1999).
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 723-729
-
-
Stagg, A.R.1
-
9
-
-
0030754621
-
Isolation and characterization of a thiamine transport gene, THI10, from Saccharomyces cerevisiae
-
Enjo, F., Nosaka, K., Ogata, M., Iwashima, A. & Nishimura, H. Isolation and characterization of a thiamine transport gene, THI10, from Saccharomyces cerevisiae. J. Biol. Chem. 272, 19165-19170 (1997).
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 19165-19170
-
-
Enjo, F.1
Nosaka, K.2
Ogata, M.3
Iwashima, A.4
Nishimura, H.5
-
10
-
-
0030768746
-
Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae
-
Singleton, CK. Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae. Gene 199, 111-121 (1997).
-
(1997)
Gene
, vol.199
, pp. 111-121
-
-
Singleton, C.K.1
-
11
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
-
12
-
-
0028926410
-
Molecular cloning of the human placental folate transporter
-
Prasad, P.D., Ramamoorthy, S., Leibach, F.H. & Ganapathy, V. Molecular cloning of the human placental folate transporter. Biochem. Biophys. Res. Commun. 206, 681-687 (1995).
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.206
, pp. 681-687
-
-
Prasad, P.D.1
Ramamoorthy, S.2
Leibach, F.H.3
Ganapathy, V.4
-
13
-
-
0029084385
-
Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells
-
Wong, S.C., Proefke, S.A., Bhushan, A. & Matherly, LH. Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells. J. Biol. Chem. 270, 17468-17475 (1995).
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 17468-17475
-
-
Wong, S.C.1
Proefke, S.A.2
Bhushan, A.3
Matherly, L.H.4
-
14
-
-
0028902788
-
Transmembrane helices predicted at 95% accuracy
-
Rost, B., Casadio, R., Fariselli, P. & Sander, C. Transmembrane helices predicted at 95% accuracy. Protein Sci. 4, 521-533 (1995).
-
(1995)
Protein Sci.
, vol.4
, pp. 521-533
-
-
Rost, B.1
Casadio, R.2
Fariselli, P.3
Sander, C.4
-
15
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning. A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989).
-
(1989)
Molecular Cloning. A Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
16
-
-
0032477866
-
Nramp2 is mutated in the anemic belgrade (b) rat: Evidence of a role for Nramp2 in endosomal iron transport
-
Fleming, M.D. et al. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc. Natl Acad. Sci. USA 95, 1148-1153 (1998).
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 1148-1153
-
-
Fleming, M.D.1
-
17
-
-
0030771126
-
The PROSITE database, its status in 1997
-
Bairoch, A., Bucher, P. & Hofman, K. The PROSITE database, its status in 1997. Nucleic Acids Res. 25, 217-221 (1997).
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 217-221
-
-
Bairoch, A.1
Bucher, P.2
Hofman, K.3
-
18
-
-
0022971824
-
Structure of pre-pro-von Willebrand factor and its expression in heterologous cells
-
Bonthron, D.T. et al. Structure of pre-pro-von Willebrand factor and its expression in heterologous cells. Nature 324, 270-273 (1986).
-
(1986)
Nature
, vol.324
, pp. 270-273
-
-
Bonthron, D.T.1
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