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of outstanding interest. A tantalising publication showing for the first time that HFE protein interacts directly with an iron transport protein, presumably effecting allosteric control of ligand binding - a process that is disrupted by the H63D mutation the role of which has been doubled. If confirmed, this discovery may provide the key to our understanding of HFE function and the regulation of iron metabolism.
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of outstanding interest. Independent discovery of the transporter DCT 1 - the rat homologue of human and murine Nramp 2 - identity of which was confirmed by functional cloning using the laborious Xenopus oocyte system.
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Yaounq, J.1
Grosbois, B.2
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Leblay, R.5
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47
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0030884018
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Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
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of special interest. Homozygosity for the HFE C282Y is not tantamount to haemochromatosis - why?
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Rhodes DA, Raha-Chowdhury K, Cox TM, Trowsdale J. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. of special interest J Med Genet. 34:1997;761-764 Homozygosity for the HFE C282Y is not tantamount to haemochromatosis - why?
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J Med Genet
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Rhodes, D.A.1
Raha-Chowdhury, K.2
Cox, T.M.3
Trowsdale, J.4
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48
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0026619233
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Knisely AS. Neonatal hemochromatosis. Adv Pediatr. 39:1992;383-403.
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Adv Pediatr
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Knisely, A.S.1
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49
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13144259692
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Juvenile and adult haemochromatosis are distinct genetic disorders
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of special interest. Clear identification of non-chromosome 6p determinants of severe iron-storage disease: genetic heterogeneity and a severe phenotype (see [52]) promises further revelations about the mechanism.
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Camaschella C, Roetto A, Cicilano M, Pasquero P, Bosio S, Gubetta L, Di Vito F, Girelli D, Totaro A, Carella M, et al. Juvenile and adult haemochromatosis are distinct genetic disorders. of special interest Eur J Hum Genet. 5:1997;371-375 Clear identification of non-chromosome 6p determinants of severe iron-storage disease: genetic heterogeneity and a severe phenotype (see [52]) promises further revelations about the mechanism.
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(1997)
Eur J Hum Genet
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, pp. 371-375
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Camaschella, C.1
Roetto, A.2
Cicilano, M.3
Pasquero, P.4
Bosio, S.5
Gubetta, L.6
Di Vito, F.7
Girelli, D.8
Totaro, A.9
Carella, M.10
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50
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0030027565
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Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
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Takahasi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet. 5:1995;81-84.
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(1995)
Hum Mol Genet
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Takahasi, Y.1
Miyajima, H.2
Shirabe, S.3
Nagataki, S.4
Suenaga, A.5
Gitlin, J.D.6
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51
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0026342071
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Iron overload in Africa: Interaction between a gene and dietary iron content
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Gordeuk VR, Mukibi J, Hasstedt SJ, Samowitz W, Edwards CO, West G, Ndambire S, Emmual J, Nkanza J, Chapanduka Z, et al. Iron overload in Africa: interaction between a gene and dietary iron content. N Engl J Med. 326:1992;95-100.
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Gordeuk, V.R.1
Mukibi, J.2
Hasstedt, S.J.3
Samowitz, W.4
Edwards, C.O.5
West, G.6
Ndambire, S.7
Emmual, J.8
Nkanza, J.9
Chapanduka, Z.10
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52
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0021014865
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Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
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Cazzola M, Ascari E, Barosi G, Claudiani G, Dacco M, Kaltwasser JP, Panaiotopoulos N, Schalk KP, Werner EE. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet. 65:1983;149-154.
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Hum Genet
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Cazzola, M.1
Ascari, E.2
Barosi, G.3
Claudiani, G.4
Dacco, M.5
Kaltwasser, J.P.6
Panaiotopoulos, N.7
Schalk, K.P.8
Werner, E.E.9
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53
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0023261222
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Perinatal hemochromatosis. Clinical, morphologic and quantitative iron studies
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Silver MM, Beverley DW, Valberg LS, Cutz E, Phillips MJ, Shaheed WI. Perinatal hemochromatosis. Clinical, morphologic and quantitative iron studies. Am J Pathol. 128:1987;538-554.
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Am J Pathol
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Silver, M.M.1
Beverley, D.W.2
Valberg, L.S.3
Cutz, E.4
Phillips, M.J.5
Shaheed, W.I.6
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54
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0028351940
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Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease
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Bale PM, Kan AE, Dorney SFA. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Ped Pathol. 14:1994;479-489.
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Ped Pathol
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Bale, P.M.1
Kan, A.E.2
Dorney, S.F.A.3
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55
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Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
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Verloes A, Lombet J, Lambert Y. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet. 68:1997;391-395.
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Am J Med Genet
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Verloes, A.1
Lombet, J.2
Lambert, Y.3
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56
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0032515555
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Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis and aminoaciduria
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Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis and aminoaciduria. Lancet. 351:1998;490-493.
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Lancet
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Fellman, V.1
Rapola, J.2
Pihko, H.3
Varilo, T.4
Raivio, K.O.5
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57
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Genetic defects of iron transport
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Bannerman RM. Genetic defects of iron transport. Fed Proc. 35:1976;2281-2285.
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Fed Proc
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Bannerman, R.M.1
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58
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Function of the HFE gene product
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Bethesda, Maryland: National Institutes of Health Symposium Proceedings; May 14-15
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Waheed A, Grubb JH, Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Jiang J, Fei Y, Brunt EM, Ruddy EA, et al. Function of the HFE gene product. Molecular Medicine and Hemochromatosis. 1998;28. Bethesda, Maryland: National Institutes of Health Symposium Proceedings; May 14-15.
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(1998)
Molecular Medicine and Hemochromatosis
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Waheed, A.1
Grubb, J.H.2
Zhou, X.Y.3
Tomatsu, S.4
Fleming, R.E.5
Parkkila, S.6
Jiang, J.7
Fei, Y.8
Brunt, E.M.9
Ruddy, E.A.10
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59
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0032478524
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Crystal structure of the hemochromatosis protein HFE and characterisation of its interaction with transferrin receptor
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of outstanding interest. This impressive paper describes the crystal structure of a truncated recombinant HFE molecule. Although a putative metal-binding domain containing a histidine cluster was identified, the purification of the recombinant protein involving a denaturation procedure prevented the demonstration of tightly-bound metal ions. No peptides were identified in the Class I binding groove. Provocative findings suggesting the in vitro formation of a ternary HFE/transferrin receptor/iron-saturated transferrin complex are reported.
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Lèbron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ. Crystal structure of the hemochromatosis protein HFE and characterisation of its interaction with transferrin receptor. of outstanding interest Cell. 93:1998;111-123 This impressive paper describes the crystal structure of a truncated recombinant HFE molecule. Although a putative metal-binding domain containing a histidine cluster was identified, the purification of the recombinant protein involving a denaturation procedure prevented the demonstration of tightly-bound metal ions. No peptides were identified in the Class I binding groove. Provocative findings suggesting the in vitro formation of a ternary HFE/transferrin receptor/iron-saturated transferrin complex are reported.
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(1998)
Cell
, vol.93
, pp. 111-123
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Lèbron, J.A.1
Bennett, M.J.2
Vaughn, D.E.3
Chirino, A.J.4
Snow, P.M.5
Mintier, G.A.6
Feder, J.N.7
Bjorkman, P.J.8
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60
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0023522698
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Hereditary hypotransferrinaemia with hemosiderosis, a murine disorder resembling human atransferrinaemia
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Bernstein SE. Hereditary hypotransferrinaemia with hemosiderosis, a murine disorder resembling human atransferrinaemia. J Lab Clin Med. 110:1987;690-705.
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J Lab Clin Med
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Bernstein, S.E.1
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61
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0001376313
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HFE gene knockout produces mouse model of hereditary hemochromatosis
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of outstanding interest. The definitive experiment: disruption of the murine HFE exon 4 region by homologous recombination leads to the development of tissue iron storage in homozygous mice fed a normal diet by the age of 10 weeks.
-
Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Waheed A, Jiang J, Fei Y, Brunt EM, Ruddy DA, Prass CE, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. of outstanding interest Proc Natl Acad Sci USA. 95:1998;2492-2497 The definitive experiment: disruption of the murine HFE exon 4 region by homologous recombination leads to the development of tissue iron storage in homozygous mice fed a normal diet by the age of 10 weeks.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2492-2497
-
-
Zhou, X.Y.1
Tomatsu, S.2
Fleming, R.E.3
Parkkila, S.4
Waheed, A.5
Jiang, J.6
Fei, Y.7
Brunt, E.M.8
Ruddy, D.A.9
Prass, C.E.10
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