Genomes and Genes
transferrin receptor 2
Gene Symbol: transferrin receptor 2
Description: transferrin receptor 2
Alias: HFE3, TFRC2, transferrin receptor protein 2
Publications147 found, 100 shown here
- Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutationAndre Mattman
Genes, Elements, and Metabolism Program, Children and Women s Hospital of British Columbia, Vancouver, British Columbia, Canada
Blood 100:1075-7. 2002..Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome...
- The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22C Camaschella
Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera S Luigi, Orbassano Torino, Italy
Nat Genet 25:14-5. 2000..A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found ..
- Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overloadE H Barton
Immunogenetics Program, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
Blood Cells Mol Dis 27:279-84. 2001....
- H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?Carles de Diego
Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain
Eur J Haematol 78:66-71. 2007..Homozygosity for the H63D mutation is associated with increased transferrin saturation (TS) and ferritin levels. Our objective was to find out if the homozygosity of H63D mutation was the primary cause of iron overload...
- New mutations inactivating transferrin receptor 2 in hemochromatosis type 3A Roetto
Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera S Luigi, Orbassano and Dipartimento di Pediatria, OIRM S Anna, Turin, Italy
Blood 97:2555-60. 2001..Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X)...
- Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensingTapasree Goswami
Harvard Medical School, Children s Hospital Boston, Division of Hematology Oncology and Howard Hughes Medical Institute, Boston, Massachusetts 02115 5737, USA
J Biol Chem 281:28494-8. 2006HFE and transferrin receptor 2 (TFR2) are membrane proteins integral to mammalian iron homeostasis and associated with human hereditary hemochromatosis...
- Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expressionJunwei Gao
Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
Cell Metab 9:217-27. 2009..The response was abolished when endogenous transferrin receptor 2 (TfR2) was suppressed or in primary hepatocytes lacking either functional TfR2 or HFE...
- Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosisP Aguilar-Martinez
Laboratory of Hematology, CHU de Montpellier, Montpellier, France
Blood Cells Mol Dis 27:290-3. 2001..Concurrently, none of the 18 hereditary hemochromatosis patients who had their TFR2 gene sequenced had any deleterious mutation. Thus, TFR2 mutations are not responsible for hemochromatosis in non-C282Y homozygous patients of our area...
- Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosisR E Fleming
Department of Pediatrics, Saint Louis University School of Medicine, St Louis, MO 63104, USA
Proc Natl Acad Sci U S A 97:2214-9. 2000....
- Transferrin receptor gene expression and transferrin-bound iron uptake are increased during postischemic rat liver reperfusionLorenza Tacchini
Istituto di Patologia Generale, e Centro di Studio sulla Patologia Cellulare CNR, Universita di Milano, Via Mangiagalli 31, 20133 Milan, Italy
Hepatology 36:103-11. 2002..TfR-mediated entry of the metal into liver cells may represent a source of catalytically active iron, which may play a role in reperfusion damage...
- Predominantly post-transcriptional regulation of activation molecules in chronic lymphocytic leukemia: the case of transferrin receptorsIoanna Chiotoglou
Laboratory of Cytogenetics and Molecular Genetics, School of Medicine, University of Thessaly, 41222 Larissa, Greece
Blood Cells Mol Dis 41:203-9. 2008..This type of control appears to be especially suited for modulation of genes implicated in proliferation of activated cells, like CLL malignant B cells...
- Transferrin receptor 2 is frequently expressed in human cancer cell linesAlessia Calzolari
Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
Blood Cells Mol Dis 39:82-91. 2007..Furthermore, our studies indicate that, at least in tumor cells, TfR2 expression is modulated by iron through different biochemical mechanisms, whose molecular basis remains to be determined...
- Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overloadDaniel F Wallace
Membrane Transport Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Hepatology 50:1992-2000. 2009Hepcidin is a central regulator of iron homeostasis. HFE and transferrin receptor 2 (TFR2) are mutated in adult-onset forms of hereditary hemochromatosis and regulate the expression of hepcidin in response to iron...
- Transferrin-directed internalization and cycling of transferrin receptor 2Juxing Chen
Department of Cell and Developmental Biology L215, Oregon Health and Science University, Portland, OR 97239, USA
Traffic 10:1488-501. 2009b>Transferrin receptor 2 (TfR2) is a homologue of transferrin receptor 1 (TfR1) but has distinct functions from TfR1 in iron homeostasis...
- Expression and polarized localization of the hemochromatosis gene product HFE in retinal pigment epitheliumPamela M Martin
Department of Biochemistry, Medical College of Georgia, Augusta, GA 30912, USA
Invest Ophthalmol Vis Sci 47:4238-44. 2006..Expression of HFE has not been investigated in the retina. In the present study, the expression of HFE and the HFE-interacting proteins TfR1, TfR2, and beta2M were analyzed in mouse retina...
- Genotypic and phenotypic heterogeneity of African Americans with primary iron overloadJames C Barton
Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
Blood Cells Mol Dis 31:310-9. 2003..HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients...
- [Hereditary and acquired iron overload]Jean Dominique de Korwin
Service de médecine interne H, CHU de Nancy, Hopital Central, 29, Avenue du Marechal de Lattre de Tassigny, 54035 Nancy
Nephrol Ther 2:S304-12. 2006....
- Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screeningJames C Barton
Southern Iron Disorders Center, Birmingham, Alabama, USA
Am J Hematol 83:126-32. 2008..Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire...
- [Non-HFE-related hereditary iron overload]Patricia Aguilar-Martinez
Laboratoire d Hematologie, CHU Montpellier, Hopital Saint Eloi
Presse Med 36:1279-91. 2007..Other causes of non-HFE-related hereditary iron overload are usually associated with recognizable clinical manifestations, such as anemia or neurological disorders...
- Hereditary hemochromatosis: pathogenesis, diagnosis, and treatmentAntonello Pietrangelo
2nd Division of Internal Medicine and Centre for Hemochromatosis, University Hospital of Modena, Modena, Italy
Gastroenterology 139:393-408, 408.e1-2. 2010..mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2), and hemojuvelin (Hjv) (which all sense the accumulation of iron that hepcidin corrects) or ..
- The role of Hfe in transferrin-bound iron uptake by hepatocytesAnita C G Chua
School of Medicine and Pharmacology, The University of Western Australia, Fremantle Hospital, Western Australia, Australia
Hepatology 47:1737-44. 2008..Diferric transferrin increased hepatocyte Tfr2 protein expression, resulting in a small increase in transferrin but not iron uptake by the Tfr1-independent pathway...
- Global sequencing approach for characterizing the molecular background of hereditary iron disordersSeverine Cunat
Laboratory of Haematology, CHU of Montpellier, Montpellier, France
Clin Chem 53:2060-9. 2007..This study aimed to develop a rapid automated method for sequencing the main genes involved...
- Linkage to chromosome 1q in Greek families with juvenile hemochromatosisG Papanikolaou
First Department of Medicine, University of Athens, Laikon Hospital, Greece
Blood Cells Mol Dis 27:744-9. 2001..hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
- [Iron overload disease: recent findings]Anna Licata
Istituto di Clinica Medica I, Universita degli Studi di Palermo
Ann Ital Med Int 19:145-54. 2004....
- Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) geneJames C Barton
Southern Iron Disorders Center, Birmingham, AL 35209, USA
Blood Cells Mol Dis 34:226-8. 2005..The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations...
- Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four casesJames C Barton
Southern Iron Disorders Center, Birmingham, Alabama, USA
Am J Hematol 81:760-7. 2006..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload...
- Ultrastructural study of a tetratrichomonad species isolated from prepucial smegma of virgin bullsEduardo Rubén Cobo
Consejo Nacional de Investigaciones Cientificas y Tecnicas, CONICET, Argentina
Vet Parasitol 117:195-211. 2003..The observations presented here show the importance of the correct diagnostic when investigating samples obtained from the urogenital tract of cattle. We also suggest that this flagellate belongs to the species Tetratrichomonas buttreyi...
- Changes of gene expression of iron regulatory proteins during turpentine oil-induced acute-phase response in the ratNadeem Sheikh
Division of Gastroenterology and Endocrinology, Department of Internal Medicine, Georg August University, Gottingen, Germany
Lab Invest 87:713-25. 2007..Under acute-phase conditions, acute-phase cytokines (eg IL-6) may modulate the gene expression of such proteins not only in the liver but also in other organs...
- Modulation of iron-regulatory genes in human hepatocellular carcinoma and its physiological consequencesMichelle Guet Khim Tan
Department of Clinical Research, Singapore General Hospital, Singapore 169608
Exp Biol Med (Maywood) 234:693-702. 2009..Expression for most of the iron-regulatory genes, including hepcidin, transferrin receptor 2 (TfR2), transferrin (Tf), ceruloplasmin (Cp) and iron regulatory protein 1 (IRP1), were significantly down-..
- HFE gene mutations and iron status of Brazilian blood donorsP C J L Santos
Departamento de Analises Clinicas e Toxicologicas, Faculdade de Ciencias Farmaceuticas, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
Braz J Med Biol Res 43:107-14. 2010..The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner...
- Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5M D Wilson
Department of Biology, Centre for Environmental Health, PO Box 3020, University of Victoria, Victoria, British Columbia V8W 3N5, Canada
Nucleic Acids Res 29:1352-65. 2001..Our mouse-human comparison can be viewed at http://web.uvic.ca/~bioweb/laj.html. Laj is available at http://bio.cse.psu.edu/, along with online documentation and additional examples of annotated genomic regions...
- Advances in understanding the molecular basis for the regulation of dietary iron absorptionRobert E Fleming
Saint Louis University School of Medicine, 1465 South Grand Avenue, Saint Louis, Missouri 63104, USA
Curr Opin Gastroenterol 21:201-6. 2005....
- Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561GNorman L Sussman
Department of Medicine, Baylor College of Medicine, Houston, Tex, USA
Acta Haematol 120:168-73. 2008..X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent...
- Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinomaJames C Barton
Southern Iron Disorders Center, Birmingham, AL 35209, USA
Blood Cells Mol Dis 36:342-6. 2006..Possible explanations for the disparate red blood cell and iron phenotypes of the proband and his family members are discussed...
- Rapid mutation of endogenous zebrafish genes using zinc finger nucleases made by Oligomerized Pool ENgineering (OPEN)Jonathan E Foley
Molecular Pathology Unit, Center for Cancer Research, and Center for Computational and Integrative Biology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America
PLoS ONE 4:e4348. 2009..The Consortium has previously used this new method (known as OPEN for Oligomerized Pool ENgineering) to generate high quality ZFN pairs that function in human and plant cells...
- The macrophage cell surface glyceraldehyde-3-phosphate dehydrogenase is a novel transferrin receptorChaaya Iyengar Raje
Institute of Microbial Technology, Sector 39 A, Chandigarh 160036, India
J Biol Chem 282:3252-61. 2007..Thus, we propose an entirely new avenue for investigation with respect to transferrin uptake and regulation mechanisms in macrophages...
- Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donorsR Mariani
Clinical Medicine and Transfusion Service, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy
Dig Liver Dis 35:479-81. 2003..We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza)...
- Transferrin-a modulates hepcidin expression in zebrafish embryosPaula G Fraenkel
Division of Hematology Oncology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
Blood 113:2843-50. 2009..Embryos with transferrin-a or transferrin receptor 2 (TfR2) deficiency exhibited low levels of hepcidin expression, however anemia, in the absence of a defect ..
- Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient miceKanji Yamamoto
The Third Department of Medicine, Shinshu University School of Medicine, Matsumoto 390 8621, Japan
Biochim Biophys Acta 1588:195-202. 2002..This result supports the hypothesis that CP mainly acts to release iron from cells in the liver...
- Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descentR C Murugan
Department of Medicine, Brookdale University Hospital and Medical Center, Brooklyn, NY, USA
Clin Genet 74:88-92. 2008..We conclude that homozygosity for HJV R54X accounts for his severe, early age-of-onset hemochromatosis; his phenotype was probably modified by serial phlebotomy therapy...
- Multiple loci influence erythrocyte phenotypes in the CHARGE ConsortiumSanthi K Ganesh
National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA
Nat Genet 41:1191-8. 2009..This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures...
- Transferrin receptor 2 is frequently and highly expressed in glioblastomasAlessia Calzolari
Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Rome, Italy
Transl Oncol 3:123-34. 2010Under physiological conditions, transferrin receptor 2 (TfR2) is expressed in the liver and its balance is related to the cell cycle rather than to intracellular iron levels...
- Hepatocyte-targeted HFE and TFR2 control hepcidin expression in miceJunwei Gao
Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR, USA
Blood 115:3374-81. 2010..In addition, these studies show that the use of recombinant AAV vector to deliver genes is a promising approach for studying physiologic consequences of protein complexes...
- Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissuesAntonella Roetto
Department of Clinical and Biological Science, University of Torino, Turin, Italy
Blood 115:3382-9. 2010b>Transferrin receptor 2 (TFR2) is a transmembrane protein that is mutated in hemochromatosis type 3. The TFR2 gene is transcribed in 2 main isoforms: the full-length (alpha) and a shorter form (beta)...
- Regulation of expression of murine transferrin receptor 2H Kawabata
Division of Hematology Oncology, Department of Medicine, Burns and Allen Research Institute, Cedars Sinai Medical Center, University of California Los Angeles School of Medicine, USA
Blood 98:1949-54. 2001Complementary and genomic DNA for the murine transferrin receptor 2 (TfR2) were cloned and mapped to chromosome 5...
- Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6Jaroslav Truksa
Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 103:10289-93. 2006..We investigate the role of Hfe, Tfr2 (transferrin receptor 2), and IL-6 in BMP2-, BMP4-, and BMP9-stimulated up-regulation of murine hepcidin, because these molecules, ..
- Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesisHana Forejtnikovà
Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
Blood 116:5357-67. 2010..Taken together, our results show that TfR2 exhibits a non hepatic function as a component of the EpoR complex and is required for efficient erythropoiesis...
- Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosisHiroshi Kawabata
Division of Hematology Immunology, Cedars Sinai Medical Center, Los Angeles, CA, USA
Blood 105:376-81. 2005b>Transferrin receptor 2 (TfR2) is a membrane glycoprotein that mediates cellular iron uptake from holotransferrin. Homozygous mutations of this gene cause one form of hereditary hemochromatosis in humans...
- Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosisDaniel F Wallace
Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane, QLD 4006, Australia
Am J Physiol Cell Physiol 294:C383-90. 2008b>Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule involved in the regulation of iron homeostasis...
- Pooled analysis of iron-related genes in Parkinson's disease: association with transferrinShannon L Rhodes
Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E Young Drive S, Los Angeles, CA 90095 1772, USA Electronic address
Neurobiol Dis 62:172-8. 2014..02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036)...
- Opioid receptor binding and antinociceptive activity of the analogues of endomorphin-2 and morphiceptin with phenylalanine mimics in the position 3 or 4Yanfeng Gao
Department of Biochemistry and Molecular Biology, School of Life Sciences, Lanzhou University, Lanzhou 730000, China
Bioorg Med Chem Lett 16:3688-92. 2006..Opioid receptor binding affinities were determined. Two analogues, [Hfe3]EM-2 and [Phg4] (EM-2/morphiceptin), showed different but potent antinociceptive activity in mouse hot-plate test, ..
- Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiationB Acikyol
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia
Neuroscience 235:119-28. 2013..reverse transcription polymerase chain reaction (RT-PCR) to assess brain transcriptome profiles of transferrin receptor 2 mutant mice (Tfr2(mut)), a model of a rare type of hereditary hemochromatosis, relative to wildtype ..
- The iron metabolism of neoplastic cells: alterations that facilitate proliferation?Juliana C Kwok
The Iron Metabolism and Chelation Group, The Heart Research Institute, 145 Missenden Road, Camperdown, Sydney, NSW 2050, Australia
Crit Rev Oncol Hematol 42:65-78. 2002..These molecules include transferrin (Tf), the oestrogen-inducible transferrin receptor-like protein, transferrin receptor 2 (TfR2), melanotransferrin (MTf), ceruloplasmin, and ferritin...
- The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulationFlavia D'Alessio
University of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg, Germany
J Hepatol 57:1052-60. 2012..Here, we investigate whether HFE, TfR2, and HJV physically interact on the surface of hepatocytes...
- Molecular diagnostic and pathogenesis of hereditary hemochromatosisPaulo C J L Santos
Laboratory of Genetics and Molecular Cardiology, Heart Institute InCor, University of Sao Paulo Medical School, SP, 05403 000, Brazil E Mails J E K A C P
Int J Mol Sci 13:1497-511. 2012..In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development ..
- Genetic polymorphisms in bovine transferrin receptor 2 (TFR2) and solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) genes and their association with beef iron contentQ Duan
Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA 50011, USA
Anim Genet 43:115-22. 2012..We hypothesized that genetic polymorphisms in transferrin receptor 2 (TFR2) and solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) could influence ..
- Genetic background of primary iron overload syndromes in JapanHisao Hayashi
Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya
Intern Med 45:1107-11. 2006..In conclusion, the genetic backgrounds of Japanese patients with primary iron overload syndromes were partially clarified, showing some phenotype-genotype correlations...
- Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in miceRoheeth D Delima
School of Medicine and Pharmacology, Fremantle Hospital, University of Western Australia, Fremantle, Western Australia, Australia
Hepatology 56:585-93. 2012Mutations in hemochromatosis protein (HFE) or transferrin receptor 2 (TFR2) cause hereditary hemochromatosis (HH) by impeding production of the liver iron-regulatory hormone, hepcidin (HAMP)...
- TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemiaPeng An
Key Laboratory of Nutrition and Metabolism, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Graduate School of the Chinese Academy of Sciences, Shanghai 200031, China
Hum Mol Genet 21:2124-31. 2012..Our findings suggest that TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and IDA...
- Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6Pauline Lee
The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
Blood Cells Mol Dis 48:173-8. 2012..Furthermore, repression of hepcidin expression by hypoxia was unaffected by the loss of functional Hfe, Tfr2 and Tmprss6...
- Hereditary hemochromatosis and transferrin receptor 2Juxing Chen
Department of Cell and Developmental Biology L215, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Biochim Biophys Acta 1820:256-63. 2012..The identification of the mutations that cause the iron overload disease, hereditary hemochromatosis (HH), or iron-refractory iron-deficiency anemia has revealed many of the proteins used to regulate iron uptake...
- A novel transferrin receptor-targeted hybrid peptide disintegrates cancer cell membrane to induce rapid killing of cancer cellsMegumi Kawamoto
Department of Pharmacoepidemiology, Graduate School of Medicine and Public Health, Kyoto University, Kyoto, Japan
BMC Cancer 11:359. 2011..In this study, we designed TfR binding peptide connected with this novel lytic peptide and assessed the cytotoxic activity in vitro and in vivo...
- The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalitiesPatricia Aguilar-Martinez
Laboratory of Hematology, Montpellier University Hospital, 34295 Montpellier Cedex 5, France
Am J Gastroenterol 100:1185-94. 2005..The proposed strategic approach may change with the identification of other genes involved in iron metabolism...
- In situ proximity ligation assays indicate that hemochromatosis proteins Hfe and transferrin receptor 2 (Tfr2) do not interactGautam Rishi
The Membrane Transport Laboratory, The Queensland Institute of Medical Research, Queensland, Australia Liver Research Centre, School of Medicine, University of Queensland, Brisbane, Queensland, Australia
PLoS ONE 8:e77267. 2013The hemochromatosis associated proteins HFE and Transferrin Receptor 2 (TFR2) have been shown to be important for the proper regulation of hepcidin...
- Juvenile hemochromatosis in a Spanish familyMarco Montes-Cano
Servicio de Inmunologia, Servicio Andaluz de Salud, Sevilla, Spain
Blood Cells Mol Dis 28:297-300. 2002..The only brother with heavy iron deposits in hepatocytes was found to be heterozygous for the JH-associated region and homozygous for the HFE187 gene, suggesting a synergistic effect between both hemochromatosis-associated genes...
- Iron uptake by melanoma cells from the soluble form of the transferrin homologue, melanotransferrinMichael R Food
The Heart Research Institute, The Iron Metabolism and Chelation Group, Camperdown, Sydney, New South Wales, Australia
Redox Rep 7:279-82. 2002..Indeed, the uptake of sMTf by cells occurred via a non-specific process (e.g. adsorptive pinocytosis)...
- Absence of hepcidin gene mutations in 10 Italian patients with primary iron overloadSilvia Majore
Haematologica 87:221-2. 2002..The sequencing of the whole hepcidin coding region, intron-exon junctions, 5' and partially 3'UTRs, did not reveal any alteration in the studied patients...
- Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genesG Glockner
Department of Genome Analysis, Institute of Molecular Biotechnology IMB, 07745 Jena, Germany
Genome Res 8:1060-73. 1998..The CUTL1 locus, consisting of two splice variants (CDP and CASP), occupies >300 kb. Based on the G, C profile an isochore switch can be defined between the CUTL1 gene and the APS and PMSL12 genes...
- Human platelets express hemochromatosis protein (HFE) and transferrin receptor 2Jokke Hannuksela
Department of Clinical Chemistry, University of Oulu, Oulu, Finland
Eur J Haematol 70:201-6. 2003..HFE, the protein defective in hereditary hemochromatosis, and transferrin receptor 2 (TfR2) are two novel protein candidates that could be involved in mechanisms of iron transport across the ..
- The role of transferrin receptor 1 and 2 in transferrin-bound iron uptake in human hepatoma cellsCarly E Herbison
The Univ of Western Australia, Fremantle Hospital, Australia
Am J Physiol Cell Physiol 297:C1567-75. 2009..This shows for the first time that TFR-mediated TBI uptake is mediated primarily via TFR1 but not TFR2 and that a high-capacity TFR-independent pathway exists in hepatoma cells...
- Hemochromatosis due to mutations in transferrin receptor 2Antonella Roetto
Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
Blood Cells Mol Dis 29:465-70. 2002..The gene responsible is Transferrin Receptor 2 (TFR2), which maps to chromosome 7q22...
- Rare types of genetic hemochromatosisClara Camaschella
Vita Salute University and San Raffaele Scientific Institute, Milan, Italy
Acta Haematol 122:140-5. 2009..The precise diagnosis of the genetic type of hemochromatosis is relevant for the follow-up, treatment, and for family counseling...
- Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factorsMelanie Volke
Department of Nephrology and Hypertension, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
PLoS ONE 4:e7875. 2009..Hypoxia and chemical stabilizers of the hypoxia-inducible transcription factor (HIF) have been shown to suppress hepcidin expression. We therefore investigated the role of HIF in hepcidin regulation...
- Transferrin receptor 2: a new molecule in iron metabolismDebbie Trinder
Department of Medicine, University of Western Australia, Fremantle Hospital, Fremantle, WA 6160, Australia
Int J Biochem Cell Biol 35:292-6. 2003..Recently, a close homologue of human transferrin receptor 1 was cloned and called transferrin receptor 2 (TfR2). A similar molecule has been identified in the mouse...
- [Regulation of the iron metabolism]Berit Borch-Iohnsen
Avdeling for ernaeringsvitenskap, Institutt for medisinske basalfag, Universitet i Oslo, Postboks 1046 Blindern, 0377 Oslo
Tidsskr Nor Laegeforen 129:858-62. 2009..Recent research has given us interesting information on the regulation of the iron metabolism and pathological iron overload; the present article aims at providing an overview of these topics...
- Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?Vivian Chan
University Department of Medicine, Queen Mary Hospital, Hong Kong, SAR China
Blood Cells Mol Dis 30:107-11. 2003..The transferrin receptor 2 (TFR2) and hereditary hemochromatosis (HFE) genes were examined to see if inheritance of these gene ..
- Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overloadMarco De Gobbi
Department of Clinical and Biological Sciences, ASO San Luigi, University of Torino, Italy
Haematologica 88:396-401. 2003..Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin...
- Analysis of hepatic genes involved in the metabolism of fatty acids and iron in nonalcoholic fatty liver diseaseHironori Mitsuyoshi
Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
Hepatol Res 39:366-73. 2009..A oxidase (ACOX), microsomal triglyceride transfer protein (MTP), transferrin receptor 1 (TfR1), transferrin receptor 2 (TfR2) and hepcidin. Twelve samples of human liver RNA were used as controls...
- Iron deficiency can upregulate expression of transferrin receptor at both the mRNA and protein levelXiangjun Tong
Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, UCLA School of Medicine, Los Angeles, CA 90048, USA
Br J Haematol 116:458-64. 2002..In contrast, expression of the transferrin receptor 2 (TfR2), which was also cloned in the same vector and stably expressed in the TRVb-CHO cells, was not ..
- Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genesAna Isabel Mendes
Human Genetics Centre, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal
Ann Hematol 88:229-34. 2009..However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this ..
- [Novel aspects of pathogenesis of hereditary hemochromatosis]Joanna Raszeja-Wyszomirska
Pomorska Akademia Medyczna w Szczecinie, Samodzielna Pracownia Hepatologii Katedry Gastroenterologii i Chorób Wewnetrznych
Pol Merkur Lekarski 24:54-8. 2008..The result of such a wide investigations is OMIM classification of hereditaty hemochromatosis, typing four types of the disease...
- Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytesAn Sheng Zhang
Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
Blood 103:1509-14. 2004..Western blot analysis confirmed this finding. Unexpectedly, HSCs also had high levels of DMT1 and ferroportin, implicating them in either iron sensing or iron cycling...
- Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosisAnita C G Chua
School of Medicine and Pharmacology, University of Western Australia, Fremantle Hospital, Fremantle 6959, Western Australia, Australia
J Hepatol 52:425-31. 2010..TFR2 has been shown to mediate iron transport in vitro and regulate iron homeostasis. The aim of this study was to determine the role of Tfr2 in iron transport in vivo using a Tfr2 mutant mouse...
- Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserumSilvia Deaglio
Laboratory of Immunogenetics, Department of Genetics, Biology, and Biochemistry, the Experimental Medicine Research Center, University of Turin Medical School, Italy
Blood 100:3782-9. 2002..The tissue distribution pattern, the behavior following exposure to iron-loaded TF, and the features of the disease resulting from TFR-2 inactivation support the hypothesis that TFR-2 contributes to body iron sensing...
- Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like familyH Kawabata
Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, University of California Los Angeles School of Medicine, Los Angeles, California 90048, USA
J Biol Chem 274:20826-32. 1999..Also, these cells had a marked increase in Tf-bound (55)Fe uptake. Taken together, TfR2-alpha may be a second transferrin receptor that can mediate cellular iron transport...
- Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptorM J Bennett
Division of Biology, California Institute of Technology, Pasadena 91125, USA
Nature 403:46-53. 2000..The HFE-TfR complex suggests a binding site for transferrin on TfR and sheds light upon the function of HFE in regulating iron homeostasis...
- Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivoH Kawabata
Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, UCLA School of Medicine, Los Angeles, California 90048, USA
J Biol Chem 275:16618-25. 2000..We recently cloned the human transferrin receptor 2 (TfR2) gene, which encodes a second receptor for transferrin (Kawabata, H., Yang, R., Hirama, T., Vuong, P...
- Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?P Aguilar-Martinez
Laboratory of Haematology, CHU of Montpellier, 34295 Montpellier, France
Gut 48:836-42. 2001..But few H63D homozygotes with clinical manifestations of hereditary haemochromatosis (HH) have been reported. Concurrently, an increasing number of genes have been shown to interact with HFE in iron metabolism...
- Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cellsH Kawabata
Division of Hematology Oncology, Department of Medicine, Cedars Sinai Medical Center, Burns and Allen Research Institute, University of California, Los Angeles, School of Medicine, 90048, USA
Blood 98:2714-9. 2001..Recently, transferrin receptor 2 (TfR2), another receptor for transferrin, was cloned...
- The molecular pathogenesis of hereditary hemochromatosisJodie L Babitt
Program in Membrane Biology, Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Semin Liver Dis 31:280-92. 2011..First, genetic studies linked this disorder to mutations in several genes, including HFE, transferrin receptor 2 ( TFR2), hepcidin ( HAMP), ferroportin ( SLC40A1), and hemojuvelin ( HFE2)...
- [Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study]Alejandro del Castillo-Rueda
Unidad de Ferropatología y Radicalosis, Departamento de Medicina Interna, Hospital General Universitario Gregorio Maranon, Facultad de Medicina, Universidad Complutense, Madrid, Espana
Med Clin (Barc) 137:68-72. 2011..Metabolic syndrome is associated with hyperferritinemia and mild iron overload, with no increase in transferrin saturation. We report a family with hyperferritinemia...
- [TfR2 mRNA expression in bone marrow mononuclear cells of children with hyperplastic anemia and its implications]Ting Ting Chen
Department of Emergency, Sichuan University West China Second Hosptial, Chengdu 610041, Sichuan Province, China
Zhongguo Shi Yan Xue Ye Xue Za Zhi 19:439-43. 2011The aim of this study was to investigate the expression of transferrin receptor 2 (TfR2) mRNA in bone marrow mononuclear cells (BMMNC) of children with hyperplastic anemia (HA), to analyze the correlation of TfR2 mRNA expression level ..
- Molecular basis of iron-loading disordersDeepak Darshan
Iron Metabolism Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Expert Rev Mol Med 12:e36. 2010..Recent advances in our understanding of hepcidin and body iron homeostasis provide the potential for a range of new diagnostic and therapeutic tools for haemochromatosis and related conditions...
- Iron metabolism gene expression in human skeletal muscleAikaterini Polonifi
First Department of Medicine, Medical School, National and Kapodistrian University of Athens, Goudi, Athens, Greece
Blood Cells Mol Dis 45:233-7. 2010..65 ± 1.1(p<0.05) and SM/L=1.5 ± 0.06(p<0.05 respectively in q-PCR). The relative expressions of the studied genes in both tissues and their relative contribution in iron homeostasis in different pathways are discussed...
- Iron metabolism in macrophages from HFE hemochromatosis patientsSandrine Jacolot
INSERM U613 Génétique moléculaire et génétique épidémiologique, Etablissement Français du Sang 46 rue Félix Le Dantec, F 29200 Brest, France
Mol Genet Metab 101:258-67. 2010....
- Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulationMaura Poli
Dipartimento Materno Infantile e Tecnologie Biomediche, Facolta di Medicina e Chirurgia, Universita di Brescia, 25123 Brescia, Italy
Haematologica 95:1832-40. 2010Impaired regulation of hepcidin in response to iron is the cause of genetic hemochromatosis associated with defects of HFE and transferrin receptor 2. However, the role of these proteins in the regulation of hepcidin expression is unclear.
- Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMADGuillem Casanovas
Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 153, 69120, Heidelberg, Germany
J Mol Med (Berl) 87:471-80. 2009The hemochromatosis proteins HFE, transferrin receptor 2 (TfR2) and hemojuvelin (HJV, HFE2) positively control expression of the major iron regulatory hormone hepcidin...
- Advancement of the study on iron metabolism and regulation in tumor cellsShu jun Wang
Department of Hematology, Zhongda Hospital, Southeast University Clinical Medicine College, Nanjing, Jiangsu 210009, PR China
Chin J Cancer 29:451-5. 2010....
- Identification of a panel of ten cell surface protein antigens associated with immunotargeting of leukemias and lymphomas by peripheral blood gammadelta T cellsAnita Q Gomes
Unidade de Imunologia Molecular, Instituto de Medicina da Universidade de Lisboa, Moniz, 1649 028 Lisboa, Portugal
Haematologica 95:1397-404. 2010..However, Vgamma9Vdelta2 T-cell based lymphoma clinical trials have suffered from the lack of biomarkers that can be used as prognostic of therapeutic success...
- High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech RepublicK Kratka
Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic
Br J Dermatol 159:585-90. 2008..Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT)...
- Transferrin fails to provide protection against Fas-induced hepatic injury in mice with deletion of functional transferrin-receptor type 2Vladimir Lesnikov
Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D1 100, P O Box 19024, Seattle, WA 98109 1024, USA
Apoptosis 13:1005-12. 2008..Here we show in C57BL6J/129 mice with genetic inactivation of transferrin receptor 2 (TfR2(Y245X)), that Fas-induced hepatotoxicity (apoptosis; rise in plasma aspartate aminotransferase (AST) ..
- Role of Transferrin Receptor 2 in Iron HomeostasisRobert Fleming; Fiscal Year: 2007..This knowledge will increase our understanding of iron homeostasis, and may suggest new approaches to the management of diseases of iron overload and maldistribution. ..
- Hemochromatosis - Epidemiology and Molecular MechanismsPauline L Lee; Fiscal Year: 2010....
- BMP Signaling and Iron MetabolismJodie L Babitt; Fiscal Year: 2010..It is hoped that this work will provide clues leading to new treatment strategies for disorders of iron overload such as hemochromatosis and disorders of iron deficiency such as anemia of chronic disease. ..
- Genomic Instability and Senescence in CancerLynne Elmore; Fiscal Year: 2009..abstract_text> ..
- IRON TRANSPORT IN A MURINE MODEL OF HEMOCHROMATOSISRobert Fleming; Fiscal Year: 2004..We hope the findings suggest novel approaches to prevent iron loading in HH and other diseases with excess dietary iron absorption. ..
- Genetic Analysis of Iron Homeostasis in ZebrafishPaula Fraenkel; Fiscal Year: 2006..These novel genes may become molecular targets for the treatment of iron overload conditions, such as hereditary hemochromatosis. ..