Non-HFE hemochromatosis: Genetics, pathogenesis, and clinical management
暂无分享,去创建一个
[1] A. Pietrangelo,et al. Non-HFE Hemochromatosis , 2005, Seminars in liver disease.
[2] T. Ganz,et al. Hepcidin is decreased in TFR2 hemochromatosis. , 2005, Blood.
[3] L. Rubbia‐Brandt,et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. , 2004, Blood.
[4] N. Andrews,et al. Identification of a novel mutation (C321X) in HJV. , 2004, Blood.
[5] J. Barton,et al. Hemojuvelin (HJV) mutations in persons of European, African‐American and Asian ancestry with adult onset haemochromatosis , 2004, British journal of haematology.
[6] X. Jeunemaître,et al. Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. , 2004, Blood cells, molecules & diseases.
[7] C. Férec,et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. , 2004, Human molecular genetics.
[8] J. Barton,et al. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. , 2004, Blood.
[9] A. Pietrangelo. Hereditary hemochromatosis--a new look at an old disease. , 2004, The New England journal of medicine.
[10] T. Frebourg,et al. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent , 2004, British journal of haematology.
[11] M. Cazzola,et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. , 2004, Blood.
[12] P. Gow,et al. A homozygous HAMP mutation in a multiply consanguineous family with pseudo‐dominant juvenile hemochromatosis , 2004, Clinical genetics.
[13] P. Grammatico,et al. HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis , 2004, Human mutation.
[14] C. Férec,et al. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. , 2004, Blood.
[15] M. Cazzola,et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). , 2004, Blood.
[16] G. Ruggeri,et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. , 2003, Clinical chemistry.
[17] R. Kittles,et al. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. , 2003, Blood cells, molecules & diseases.
[18] C. Vulpe,et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. , 2003, Blood cells, molecules & diseases.
[19] C. Beaumont,et al. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. , 2003, Blood.
[20] R. Chapman,et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. , 2003, Human molecular genetics.
[21] P. Fergelot,et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. , 2003, Journal of hepatology.
[22] G. Anderson,et al. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient , 2003, Gut.
[23] P. Gasparini,et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. , 2003, Haematologica.
[24] P. Brissot. The discovery of the new haemochromatosis gene , 2003 .
[25] Ai Harashima,et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. , 2003, Hepatology research : the official journal of the Japan Society of Hepatology.
[26] M. Hentze,et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis , 2003, Nature Genetics.
[27] N. Andrews,et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis , 2003, Nature Genetics.
[28] D. Purdie,et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis , 2003, The Lancet.
[29] A. Bomford. Genetics of haemochromatosis , 2002, The Lancet.
[30] M. Loda,et al. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. , 2002, Blood.
[31] M. Cazzola,et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) , 2002, British journal of haematology.
[32] V. Felitti,et al. Penetrance of hemochromatosis. , 2002, Blood cells, molecules & diseases.
[33] Gaël Nicolas,et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. , 2002, The Journal of clinical investigation.
[34] Andrew T McKie,et al. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. , 2002, Gastroenterology.
[35] M. Marra,et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. , 2002, Blood.
[36] W. Hofmann,et al. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. , 2002, Blood.
[37] W. Sly,et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[38] L. Powell,et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. , 2002, Blood.
[39] Jennifer J. Pointon,et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. , 2002, Blood.
[40] M. Worwood,et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). , 2002, Blood.
[41] M. De Gobbi,et al. Genetic haemochromatosis: genes and mutations associated with iron loading. , 2002, Best practice & research. Clinical haematology.
[42] M. Worwood. HFE Mutations as risk factors in disease. , 2002, Best practice & research. Clinical haematology.
[43] D. Girelli,et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. , 2002, Gastroenterology.
[44] J. Koziol,et al. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA , 2002, The Lancet.
[45] A. Donovan,et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. , 2001, The Journal of clinical investigation.
[46] C. Beaumont,et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[47] Cornelia M. van Duijn,et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis , 2001, Nature Genetics.
[48] M. Gobbi,et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. , 2001, Blood.
[49] Christina H. Park,et al. Hepcidin, a Urinary Antimicrobial Peptide Synthesized in the Liver* , 2001, The Journal of Biological Chemistry.
[50] Bruno Turlin,et al. A New Mouse Liver-specific Gene, Encoding a Protein Homologous to Human Antimicrobial Peptide Hepcidin, Is Overexpressed during Iron Overload* , 2001, The Journal of Biological Chemistry.
[51] D. Girelli,et al. Haemochromatosis in patients with β‐thalassaemia trait , 2000, British journal of haematology.
[52] Peter Schulz-Knappe,et al. LEAP‐1, a novel highly disulfide‐bonded human peptide, exhibits antimicrobial activity , 2000, FEBS letters.
[53] Hiroshi Kawabata,et al. Transferrin Receptor 2-α Supports Cell Growth Both in Iron-chelated Cultured Cells and in Vivo * , 2000, The Journal of Biological Chemistry.
[54] Paolo Gasparini,et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 , 2000, Nature Genetics.
[55] W. Sly,et al. Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[56] A. Brownlie,et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter , 2000, Nature.
[57] 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.
[58] H. Koeffler,et al. Molecular Cloning of Transferrin Receptor 2 , 1999, The Journal of Biological Chemistry.
[59] 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.
[60] G. McLachlan,et al. GASTROENTEROLOGY 1998;114:543–549 Distribution of Transferrin Saturation in an Australian Population: Relevance to the Early Diagnosis , 2022 .
[61] M. C. Ellis,et al. A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis , 1996, Nature Genetics.
[62] R. Fauchet,et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. , 1987, American journal of human genetics.
[63] R. Fauchet,et al. [Letter: Idiopathic hemochromatosis associated with HL-A 3 tissular antigen]. , 1975, La Nouvelle presse medicale.
[64] J. Said,et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. , 2005, Blood.
[65] A. Piga,et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. , 2004, Haematologica.
[66] Marie-Pierre Dubé,et al. Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis , 2004, Nature Genetics.
[67] G. Papanikolaou,et al. Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. , 2004, Haematologica.
[68] A. Pietrangelo. The ferroportin disease. , 2004, Blood cells, molecules & diseases.
[69] D. Girelli,et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis , 2003, Nature Genetics.
[70] Haile Dj. Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization. , 2000 .