Iron homeostasis: insights from genetics and animal models

[1]  N. Andrews,et al.  The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemiamkmice but is not properly targeted to the intestinal brush border , 2000 .

[2]  N. Andrews,et al.  The molecular defect in hypotransferrinemic mice. , 2000, Blood.

[3]  S. Abboud,et al.  A Novel Mammalian Iron-regulated Protein Involved in Intracellular Iron Metabolism* , 2000, The Journal of Biological Chemistry.

[4]  Paolo Gasparini,et al.  The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 , 2000, Nature Genetics.

[5]  N. Andrews,et al.  Genes that modify the hemochromatosis phenotype in mice. , 2000, The Journal of clinical investigation.

[6]  K. Fischbeck,et al.  Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. , 2000, Human molecular genetics.

[7]  A. Brownlie,et al.  Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter , 2000, Nature.

[8]  C. Beaumont,et al.  Early Embryonic Lethality of H Ferritin Gene Deletion in Mice* , 2000, The Journal of Biological Chemistry.

[9]  R J Simpson,et al.  A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. , 2000, Molecular cell.

[10]  P. Bjorkman,et al.  Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor , 2000, Nature.

[11]  S. Bahram,et al.  Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[12]  M. Pandolfo,et al.  Molecular pathogenesis of Friedreich ataxia. , 1999, Archives of neurology.

[13]  J. Gitlin,et al.  Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[14]  P. Gasparini,et al.  Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. , 1999, The New England journal of medicine.

[15]  J. Olynyk,et al.  A population-based study of the clinical expression of the hemochromatosis gene. , 1999, The New England journal of medicine.

[16]  N. Andrews,et al.  Commentary on: ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. , 1999, Journal of pediatric hematology/oncology.

[17]  J. Lukens,et al.  Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. , 1999, Journal of pediatric hematology/oncology.

[18]  H. Koeffler,et al.  Molecular Cloning of Transferrin Receptor 2 , 1999, The Journal of Biological Chemistry.

[19]  Dena E. Cohen,et al.  The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. , 1999, Blood.

[20]  P. Gros,et al.  Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. , 1999, Blood.

[21]  M. Cazzola,et al.  Juvenile hemochromatosis locus maps to chromosome 1q. , 1999, American journal of human genetics.

[22]  C. Férec,et al.  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis , 2016 .

[23]  Nancy Andrews,et al.  Transferrin receptor is necessary for development of erythrocytes and the nervous system , 1999, Nature Genetics.

[24]  S. Grinstein,et al.  The Iron Transport Protein NRAMP2 Is an Integral Membrane Glycoprotein That Colocalizes with Transferrin in Recycling Endosomes , 1999, The Journal of experimental medicine.

[25]  Gregory J. Anderson,et al.  Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse , 1999, Nature Genetics.

[26]  P. Fenaux,et al.  Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations , 1999, British journal of haematology.

[27]  N. Andrews,et al.  The G185R mutation disrupts function of the iron transporter Nramp2. , 1998, Blood.

[28]  J. Gitlin,et al.  Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. , 1998, The American journal of clinical nutrition.

[29]  P. Bjorkman,et al.  Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin Receptor , 1998, Cell.

[30]  W. Sly,et al.  HFE gene knockout produces mouse model of hereditary hemochromatosis. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[31]  N. Andrews,et al.  Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[32]  T. Hansen,et al.  [Neonatal hemochromatosis]. , 1998, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

[33]  D. Segal,et al.  Metal ions suppress the abnormal taste behavior of the Drosophila mutant malvolio. , 1998, The Journal of experimental biology.

[34]  W. Sly,et al.  Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[35]  D. Girelli,et al.  Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders , 1997, European journal of human genetics : EJHG.

[36]  N. Andrews,et al.  Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene , 1997, Nature genetics.

[37]  Stephan Nussberger,et al.  Cloning and characterization of a mammalian proton-coupled metal-ion transporter , 1997, Nature.

[38]  T. Rouault,et al.  Traditional beer consumption and the iron status of spouse pairs from a rural community in Zimbabwe. , 1997, Blood.

[39]  D A Kane,et al.  The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. , 1996, Development.

[40]  M. C. Ellis,et al.  A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis , 1996, Nature Genetics.

[41]  P. Harrison,et al.  The ferritins: molecular properties, iron storage function and cellular regulation. , 1996, Biochimica et biophysica acta.

[42]  F. Supek,et al.  A yeast manganese transporter related to the macrophage protein involved in conferring resistance to mycobacteria. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[43]  E. Morgan,et al.  Defective iron uptake by the duodenum of Belgrade rats fed diets of different iron contents. , 1996, The American journal of physiology.

[44]  J. A. Barker,et al.  Microcytic anemia with iron malabsorption: An inherited disorder of iron metabolism , 1996, American journal of hematology.

[45]  W. Stremmel,et al.  Characterization and partial purification of a ferrireductase from human duodenal microvillus membranes. , 1995, The Biochemical journal.

[46]  K. Ray,et al.  malvolio, the Drosophila homologue of mouse NRAMP‐1 (Bcg), is expressed in macrophages and in the nervous system and is required for normal taste behaviour. , 1995, The EMBO journal.

[47]  H. Morita,et al.  Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family , 1995, Annals of neurology.

[48]  R. MacGillivray,et al.  Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[49]  Akinori Nakamura,et al.  A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans , 1995, Nature Genetics.

[50]  C. Finch,et al.  Regulators of iron balance in humans. , 1994, Blood.

[51]  T. Cox,et al.  X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. , 1994, The New England journal of medicine.

[52]  J. Salisbury,et al.  Tissue iron loading and histopathological changes in hypotransferrinaemic mice , 1993, The Journal of pathology.

[53]  E. Morgan,et al.  Diminished iron acquisition by cells and tissues of Belgrade laboratory rats. , 1992, The American journal of physiology.

[54]  G. L. West,et al.  Iron overload in Africa. Interaction between a gene and dietary iron content. , 1992, The New England journal of medicine.

[55]  J. Woods,et al.  Congenital atransferrinemia. A case report and review of the literature. , 1991, American journal of clinical pathology.

[56]  C. Craven,et al.  A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. , 1989, Blood.

[57]  C. Craven,et al.  Regulation of the Distribution of Tissue Iron , 1988, Annals of the New York Academy of Sciences.

[58]  M. Skolnick,et al.  Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. , 1988, The New England journal of medicine.

[59]  Bernstein Se.  Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. , 1987 .

[60]  E. Morgan,et al.  Anemia of the Belgrade rat: evidence for defective membrane transport of iron. , 1987, Blood.

[61]  S. E. Bernstein.  Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. , 1987, The Journal of laboratory and clinical medicine.

[62]  C. Finch,et al.  Iron metabolism in the Belgrade rat. , 1986, Blood.

[63]  G. Buchanan,et al.  Malabsorption and defective utilization of iron in three siblings. , 1981, The Journal of pediatrics.

[64]  R. Bannerman,et al.  Iron Deficiency Anaemia in Newborn sla Mice: a Genetic Defect of Placental Iron Transport , 1978, British journal of haematology.

[65]  R. Bannerman.  Genetic defects of iron transport. , 1976, Federation proceedings.

[66]  R. Fauchet,et al.  Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. , 1976, Gut.

[67]  J. Hoke,et al.  Red cell iron uptake in hereditary microcytic anemia. , 1975, Blood.

[68]  D. Harrison.  Marrow transplantation and iron therapy in mouse hereditary microcytic anemia. , 1972, Blood.

[69]  J. Hoke,et al.  Defect of Intestinal Mucosal Iron Uptake in Mice with Hereditary Microcytic Anemia , 1972, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[70]  N. Goya,et al.  A family of congenital atransferrinemia. , 1972, Blood.

[71]  E. Frieden,et al.  The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I. , 1971, The Journal of biological chemistry.

[72]  R. Bannerman,et al.  Hereditary defect of intestinal iron transport in mice with sex-linked anemia. , 1970, The Journal of clinical investigation.

[73]  E. Russell,et al.  Low viability, skin lesions, and reduced fertility associated with microcytic anemia in the mouse. , 1970, Transplantation proceedings.

[74]  P. Pinkerton,et al.  Iron Metabolism and Absorption Studies in the X‐linked Anaemia of Mice , 1970, British journal of haematology.

[75]  H. Ranney,et al.  A THALASSEMIA‐LIKE DISORDER IN BELGRADE LABORATORY RATS * , 1969, Annals of the New York Academy of Sciences.

[76]  D. Johnson,et al.  Mobilization of liver iron by ferroxidase (ceruloplasmin). , 1969, The Journal of biological chemistry.

[77]  J. Lukens,et al.  Iron metabolism in copper-deficient swine. , 1968, The Journal of clinical investigation.

[78]  J. Bush,et al.  Studies on Copper Metabolism: XVII. Further Observations on the Anemia of Copper Deficiency in Swine , 1956 .

[79]  G. Cartwright,et al.  Studies on Copper Metabolism , 1952 .

[80]  A. L. Schade,et al.  An Iron-binding Component in Human Blood Plasma. , 1946, Science.