메뉴 건너뛰기




Volumn 5, Issue , 2014, Pages

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

(69)  Benyamin, Beben a,b   Esko, Tonu c,d   Ried, Janina S e   Radhakrishnan, Aparna f   Vermeulen, Sita H g   Traglia, Michela h,i   Gögele, Martin j   Anderson, Denise k   Broer, Linda l   Podmore, Clara m   Luan, Jian'An m   Kutalik, Zoltan n,o   Sanna, Serena p   Van Der Meer, Peter q   Tanaka, Toshiko r   Wang, Fudi s   Westra, Harm Jan q   Franke, Lude q   Mihailov, Evelin c,t   Milani, Lili c   more..


Author keywords

[No Author keywords available]

Indexed keywords

ABO PROTEIN; ARYLAMINE ACETYLTRANSFERASE; BIOCHEMICAL MARKER; C REACTIVE PROTEIN; CD71 ANTIGEN; FATTY ACID DESATURASE 2; HFE PROTEIN; IRON; LIPOPROTEIN; SERINE PROTEINASE; SOLUTE CARRIER FAMILY 40; TEX14 PROTEIN; TRANSCRIPTION FACTOR ARNTL; TRANSFERRIN; TRANSFERRIN RECEPTOR; TRANSFERRIN RECEPTOR 2; TRANSMEMBRANE PROTEASE SERINE 6; UNCLASSIFIED DRUG; FERRITIN; LIPID;

EID: 84923272209     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms5926     Document Type: Article
Times cited : (213)

References (70)
  • 1
    • 84879753159 scopus 로고    scopus 로고
    • Iron deficiency anemia: A common and curable disease
    • Miller, J. L. Iron deficiency anemia: a common and curable disease. Cold Spring Harb. Perspect. Med. 3, a011866 (2013).
    • (2013) Cold Spring Harb. Perspect. Med. , vol.3 , pp. a011866
    • Miller, J.L.1
  • 2
    • 78649319060 scopus 로고    scopus 로고
    • Iron and immunity: Immunological consequences of iron deficiency and overload
    • Cherayil, B. J. Iron and immunity: immunological consequences of iron deficiency and overload. Arch. Immunol. Ther. Exp. (Warsz) 58, 407-415 (2010).
    • (2010) Arch. Immunol. Ther. Exp. (Warsz) , vol.58 , pp. 407-415
    • Cherayil, B.J.1
  • 3
    • 34147096320 scopus 로고    scopus 로고
    • An overview of evidence for a causal relation between iron deficiency during development and deficits in cognitive or behavioral function
    • McCann, J. C. & Ames, B. N. An overview of evidence for a causal relation between iron deficiency during development and deficits in cognitive or behavioral function. Am. J. Clin. Nutr. 85, 931-945 (2007).
    • (2007) Am. J. Clin. Nutr. , vol.85 , pp. 931-945
    • McCann, J.C.1    Ames, B.N.2
  • 4
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Genetic complexity and new diagnostic approaches
    • Swinkels, D. W., Janssen, M. C., Bergmans, J. & Marx, J. J. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin. Chem. 52, 950-968 (2006).
    • (2006) Clin. Chem. , vol.52 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3    Marx, J.J.4
  • 5
    • 78249231390 scopus 로고    scopus 로고
    • Iron overload in thalassemia and related conditions: Therapeutic goals and assessment of response to chelation therapies
    • Porter, J. B. & Shah, F. T. Iron overload in thalassemia and related conditions: therapeutic goals and assessment of response to chelation therapies. Hematol. Oncol. Clin. North Am. 24, 1109-1130 (2010).
    • (2010) Hematol. Oncol. Clin. North Am. , vol.24 , pp. 1109-1130
    • Porter, J.B.1    Shah, F.T.2
  • 6
    • 34648830569 scopus 로고    scopus 로고
    • Role of iron in hepatic fibrosis: One piece in the puzzle
    • Philippe, M. A., Ruddell, R. G. & Ramm, G. A. Role of iron in hepatic fibrosis: one piece in the puzzle. World J. Gastroenterol. 13, 4746-4754 (2007).
    • (2007) World J. Gastroenterol. , vol.13 , pp. 4746-4754
    • Philippe, M.A.1    Ruddell, R.G.2    Ramm, G.A.3
  • 7
    • 79952996094 scopus 로고    scopus 로고
    • Iron promotes the toxicity of amyloid beta peptide by impeding its ordered aggregation
    • Liu, B. et al. Iron promotes the toxicity of amyloid beta peptide by impeding its ordered aggregation. J. Biol. Chem. 286, 4248-4256 (2011).
    • (2011) J. Biol. Chem. , vol.286 , pp. 4248-4256
    • Liu, B.1
  • 8
    • 79953894390 scopus 로고    scopus 로고
    • Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability
    • Liu, Y. et al. Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. J. Biol. Chem. 286, 13161-13170 (2011).
    • (2011) J. Biol. Chem. , vol.286 , pp. 13161-13170
    • Liu, Y.1
  • 9
    • 79955492902 scopus 로고    scopus 로고
    • HFE gene variants affect iron in the brain
    • Nandar, W. & Connor, J. R. HFE gene variants affect iron in the brain. J. Nutr. 141, 729S-739S (2011).
    • (2011) J. Nutr. , vol.141 , pp. 729S-739S
    • Nandar, W.1    Connor, J.R.2
  • 10
    • 84877325970 scopus 로고    scopus 로고
    • Ferritin levels and risk of type 2 diabetes mellitus: An updated systematic review and meta-analysis of prospective evidence
    • Kunutsor, S. K., Apekey, T. A., Walley, J. & Kain, K. Ferritin levels and risk of type 2 diabetes mellitus: an updated systematic review and meta-analysis of prospective evidence. Diabetes Metab. Res. Rev. 29, 308-318 (2013).
    • (2013) Diabetes Metab. Res. Rev. , vol.29 , pp. 308-318
    • Kunutsor, S.K.1    Apekey, T.A.2    Walley, J.3    Kain, K.4
  • 11
    • 84875292271 scopus 로고    scopus 로고
    • Iron and diabetes risk
    • Simcox, J. A. & McClain, D. A. Iron and diabetes risk. Cell Metab. 17, 329-341 (2013).
    • (2013) Cell Metab. , vol.17 , pp. 329-341
    • Simcox, J.A.1    McClain, D.A.2
  • 12
    • 84891819034 scopus 로고    scopus 로고
    • Total mortality by elevated transferrin saturation in patients with diabetes
    • Ellervik, C. et al. Total mortality by elevated transferrin saturation in patients with diabetes. Diabetes Care 36, 2646-2654 (2013).
    • (2013) Diabetes Care , vol.36 , pp. 2646-2654
    • Ellervik, C.1
  • 13
    • 79952215851 scopus 로고    scopus 로고
    • Total mortality by Transferrin saturation levels: Two general population studies and a meta-analysis
    • Ellervik, C., Tybjaerg-Hansen, A. & Nordestgaard, B. G. Total mortality by Transferrin saturation levels: two general population studies and a meta-analysis. Clin. Chem. 57, 459-466 (2011).
    • (2011) Clin. Chem. , vol.57 , pp. 459-466
    • Ellervik, C.1    Tybjaerg-Hansen, A.2    Nordestgaard, B.G.3
  • 14
    • 84879529900 scopus 로고    scopus 로고
    • Serum iron levels and the risk of Parkinson disease: A mendelian randomization study
    • Pichler, I. et al. Serum iron levels and the risk of Parkinson disease: a mendelian randomization study. PLoS Med. 10, e1001462 (2013).
    • (2013) PLoS Med. , vol.10 , pp. e1001462
    • Pichler, I.1
  • 15
    • 84886403956 scopus 로고    scopus 로고
    • Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin
    • Rhodes, S. L. et al. Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin. Neurobiol. Dis. 62C, 172-178 (2013).
    • (2013) Neurobiol. Dis. , vol.62 C , pp. 172-178
    • Rhodes, S.L.1
  • 16
    • 0033927849 scopus 로고    scopus 로고
    • Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
    • Whitfield, J. B. et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am. J. Hum. Genet. 66, 1246-1258 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1246-1258
    • Whitfield, J.B.1
  • 17
    • 70449597270 scopus 로고    scopus 로고
    • Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes
    • Traglia, M. et al. Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS ONE 4, e7554 (2009).
    • (2009) PLoS ONE , vol.4 , pp. e7554
    • Traglia, M.1
  • 18
    • 70350628958 scopus 로고    scopus 로고
    • Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    • Benyamin, B. et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat. Genet. 41, 1173-1175 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1173-1175
    • Benyamin, B.1
  • 19
    • 79952016793 scopus 로고    scopus 로고
    • Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
    • Pichler, I. et al. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum. Mol. Genet. 20, 1232-1240 (2011).
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1232-1240
    • Pichler, I.1
  • 20
    • 70350646902 scopus 로고    scopus 로고
    • Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
    • Ganesh, S. K. et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat. Genet. 41, 1191-1198 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1191-1198
    • Ganesh, S.K.1
  • 21
    • 70350638919 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
    • Chambers, J. C. et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat. Genet. 41, 1170-1172 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1170-1172
    • Chambers, J.C.1
  • 22
    • 70350644759 scopus 로고    scopus 로고
    • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    • Soranzo, N. et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet. 41, 1182-1190 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1182-1190
    • Soranzo, N.1
  • 23
    • 77954249308 scopus 로고    scopus 로고
    • Two to tango: Regulation of mammalian iron metabolism
    • Hentze, M. W., Muckenthaler, M. U., Galy, B. & Camaschella, C. Two to tango: regulation of mammalian iron metabolism. Cell 142, 24-38 (2010).
    • (2010) Cell , vol.142 , pp. 24-38
    • Hentze, M.W.1    Muckenthaler, M.U.2    Galy, B.3    Camaschella, C.4
  • 24
    • 45149108420 scopus 로고    scopus 로고
    • Mapping the genetic architecture of gene expression in human liver
    • Schadt, E. E. et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 6, e107 (2008).
    • (2008) PLoS Biol. , vol.6 , pp. e107
    • Schadt, E.E.1
  • 25
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst, P. et al. Seventy-five genetic loci influencing the human red blood cell. Nature 492, 369-375 (2012).
    • (2012) Nature , vol.492 , pp. 369-375
    • Van Der Harst, P.1
  • 26
    • 84887099827 scopus 로고    scopus 로고
    • Discovery and refinement of loci associated with lipid levels
    • Global Lipids Genetics C et al. Discovery and refinement of loci associated with lipid levels. Nat. Genet. 45, 1274-1283 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1274-1283
    • Global Lipids Genetics, C.1
  • 27
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams, P. C. et al. Hemochromatosis and iron-overload screening in a racially diverse population. New Engl. J. Med. 352, 1769-1778 (2005).
    • (2005) New Engl. J. Med. , vol.352 , pp. 1769-1778
    • Adams, P.C.1
  • 28
    • 0025271562 scopus 로고
    • Serum transferrin receptor: A quantitative measure of tissue iron deficiency
    • Skikne, B. S., Flowers, C. H. & Cook, J. D. Serum transferrin receptor: a quantitative measure of tissue iron deficiency. Blood 75, 1870-1876 (1990).
    • (1990) Blood , vol.75 , pp. 1870-1876
    • Skikne, B.S.1    Flowers, C.H.2    Cook, J.D.3
  • 29
    • 33846494990 scopus 로고    scopus 로고
    • Correlation between serum ferritin levels and liver iron concentration determined by MR imaging: Impact of hematologic disease and inflammation
    • Olthof, A. W. et al. Correlation between serum ferritin levels and liver iron concentration determined by MR imaging: impact of hematologic disease and inflammation. Magn. Reson. Imaging 25, 228-231 (2007).
    • (2007) Magn. Reson. Imaging , vol.25 , pp. 228-231
    • Olthof, A.W.1
  • 30
    • 79952069515 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association studies in 480 000 subjects identifies multiple loci for C-reactive protein levels
    • Dehghan, A. et al. Meta-analysis of genome-wide association studies in 480 000 subjects identifies multiple loci for C-reactive protein levels. Circulation 123, 731-738 (2011).
    • (2011) Circulation , vol.123 , pp. 731-738
    • Dehghan, A.1
  • 31
    • 77952510546 scopus 로고    scopus 로고
    • Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes
    • Qi, L. et al. Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. Hum. Mol. Genet. 19, 1856-1862 (2010).
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 1856-1862
    • Qi, L.1
  • 32
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich, T. M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1
  • 33
    • 79953204259 scopus 로고    scopus 로고
    • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    • Schunkert, H. et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat. Genet. 43, 333-338 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 333-338
    • Schunkert, H.1
  • 34
    • 84872053875 scopus 로고    scopus 로고
    • Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins
    • Yu, J. et al. Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins. J. Biol. Chem. 288, 79-88 (2013).
    • (2013) J. Biol. Chem. , vol.288 , pp. 79-88
    • Yu, J.1
  • 35
    • 78650037490 scopus 로고    scopus 로고
    • Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis
    • Forejtnikova, H. et al. Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. Blood 116, 5357-5367 (2010).
    • (2010) Blood , vol.116 , pp. 5357-5367
    • Forejtnikova, H.1
  • 36
    • 77957353318 scopus 로고    scopus 로고
    • Influences of sleep and the circadian rhythm on iron-status indices
    • Ridefelt, P., Larsson, A., Rehman, J. U. & Axelsson, J. Influences of sleep and the circadian rhythm on iron-status indices. Clin. Biochem. 43, 1323-1328 (2010).
    • (2010) Clin. Biochem. , vol.43 , pp. 1323-1328
    • Ridefelt, P.1    Larsson, A.2    Rehman, J.U.3    Axelsson, J.4
  • 37
    • 58649108784 scopus 로고    scopus 로고
    • Diurnal cycle influences peripheral and brain iron levels in mice
    • Unger, E. L., Earley, C. J. & Beard, J. L. Diurnal cycle influences peripheral and brain iron levels in mice. J. Appl. Physiol. (1985) 106, 187-193 (2009).
    • (2009) J. Appl. Physiol. (1985) , vol.106 , pp. 187-193
    • Unger, E.L.1    Earley, C.J.2    Beard, J.L.3
  • 38
    • 84874640525 scopus 로고    scopus 로고
    • Diurnal rhythm rather than dietary iron mediates daily hepcidin variations
    • Schaap, C. C. et al. Diurnal rhythm rather than dietary iron mediates daily hepcidin variations. Clin. Chem. 59, 527-535 (2013).
    • (2013) Clin. Chem. , vol.59 , pp. 527-535
    • Schaap, C.C.1
  • 39
    • 77955361748 scopus 로고    scopus 로고
    • Circadian rhythm of transferrin receptor 1 gene expression controlled by c-Myc in colon cancer-bearing mice
    • Okazaki, F. et al. Circadian rhythm of transferrin receptor 1 gene expression controlled by c-Myc in colon cancer-bearing mice. Cancer Res. 70, 6238-6246 (2010).
    • (2010) Cancer Res. , vol.70 , pp. 6238-6246
    • Okazaki, F.1
  • 40
    • 80052398214 scopus 로고    scopus 로고
    • Human metabolic individuality in biomedical and pharmaceutical research
    • Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54-60 (2011).
    • (2011) Nature , vol.477 , pp. 54-60
    • Suhre, K.1
  • 41
    • 58149163149 scopus 로고    scopus 로고
    • Common variants at 30 loci contribute to polygenic dyslipidemia
    • Kathiresan, S. et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41, 56-65 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 56-65
    • Kathiresan, S.1
  • 42
    • 79960947310 scopus 로고    scopus 로고
    • Genetic loci associated with plasma phospholipid n-3 fatty acids: A meta-analysis of genome-wide association studies from the CHARGE Consortium
    • Lemaitre, R. N. et al. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. PLoS Genet. 7, e1002193 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1002193
    • Lemaitre, R.N.1
  • 43
    • 77953624808 scopus 로고    scopus 로고
    • Genetic variation in lipid desaturases and its impact on the development of human disease
    • Merino, D. M., Ma, D. W. & Mutch, D. M. Genetic variation in lipid desaturases and its impact on the development of human disease. Lipids Health Dis. 9, 63 (2010).
    • (2010) Lipids Health Dis. , vol.9 , pp. 63
    • Merino, D.M.1    Ma, D.W.2    Mutch, D.M.3
  • 44
    • 75749086085 scopus 로고    scopus 로고
    • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    • Dupuis, J. et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat. Genet. 42, 105-116 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 105-116
    • Dupuis, J.1
  • 45
    • 77951858557 scopus 로고    scopus 로고
    • Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans
    • Ingelsson, E. et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes 59, 1266-1275 (2010).
    • (2010) Diabetes , vol.59 , pp. 1266-1275
    • Ingelsson, E.1
  • 46
    • 80055024880 scopus 로고    scopus 로고
    • Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
    • Chambers, J. C. et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat. Genet. 43, 1131-1138 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 1131-1138
    • Chambers, J.C.1
  • 47
    • 78149245489 scopus 로고    scopus 로고
    • Genetic variants influencing circulating lipid levels and risk of coronary artery disease
    • Waterworth, D. M. et al. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler. Thromb. Vasc. Biol. 30, 2264-2276 (2010).
    • (2010) Arterioscler. Thromb. Vasc. Biol. , vol.30 , pp. 2264-2276
    • Waterworth, D.M.1
  • 48
    • 33847635269 scopus 로고    scopus 로고
    • Hypocholesterolemia in chronic anemias with increased erythropoietic activity
    • Shalev, H., Kapelushnik, J., Moser, A., Knobler, H. & Tamary, H. Hypocholesterolemia in chronic anemias with increased erythropoietic activity. Am. J. Hematol. 82, 199-202 (2007).
    • (2007) Am. J. Hematol. , vol.82 , pp. 199-202
    • Shalev, H.1    Kapelushnik, J.2    Moser, A.3    Knobler, H.4    Tamary, H.5
  • 49
    • 84856225143 scopus 로고    scopus 로고
    • Pharmacological suppression of hepcidin increases macrophage cholesterol efflux and reduces foam cell formation and atherosclerosis
    • Saeed, O. et al. Pharmacological suppression of hepcidin increases macrophage cholesterol efflux and reduces foam cell formation and atherosclerosis. Arterioscler. Thromb. Vasc. Biol. 32, 299-307 (2012).
    • (2012) Arterioscler. Thromb. Vasc. Biol. , vol.32 , pp. 299-307
    • Saeed, O.1
  • 50
    • 84855346179 scopus 로고    scopus 로고
    • Hemoglobin directs macrophage differentiation and prevents foam cell formation in human atherosclerotic plaques
    • Finn, A. V. et al. Hemoglobin directs macrophage differentiation and prevents foam cell formation in human atherosclerotic plaques. J. Am. Coll. Cardiol. 59, 166-177 (2012).
    • (2012) J. Am. Coll. Cardiol. , vol.59 , pp. 166-177
    • Finn, A.V.1
  • 51
    • 84867733827 scopus 로고    scopus 로고
    • Interactions between hepatic iron and lipid metabolism with possible relevance to steatohepatitis
    • Ahmed, U., Latham, P. S. & Oates, P. S. Interactions between hepatic iron and lipid metabolism with possible relevance to steatohepatitis. World J. Gastroenterol. 18, 4651-4658 (2012).
    • (2012) World J. Gastroenterol. , vol.18 , pp. 4651-4658
    • Ahmed, U.1    Latham, P.S.2    Oates, P.S.3
  • 52
    • 84859778293 scopus 로고    scopus 로고
    • MTOR signaling in growth control and disease
    • Laplante, M. & Sabatini, D. M. mTOR signaling in growth control and disease. Cell 149, 274-293 (2012).
    • (2012) Cell , vol.149 , pp. 274-293
    • Laplante, M.1    Sabatini, D.M.2
  • 53
    • 84897568295 scopus 로고    scopus 로고
    • Unbiased RNAi screen for hepcidin regulators links hepcidin suppression to the proliferative Ras/RAF and the nutrient-dependent mTOR signaling pathways
    • Mleczko-Sanecka, K. et al. Unbiased RNAi screen for hepcidin regulators links hepcidin suppression to the proliferative Ras/RAF and the nutrient-dependent mTOR signaling pathways. Blood 123, 1574-1585 (2014).
    • (2014) Blood , vol.123 , pp. 1574-1585
    • Mleczko-Sanecka, K.1
  • 54
    • 78751695016 scopus 로고    scopus 로고
    • Diagnosis and management of hereditary haemochromatosis
    • van Bokhoven, M. A., van Deursen, C. T. & Swinkels, D. W. Diagnosis and management of hereditary haemochromatosis. BMJ 342, c7251 (2011).
    • (2011) BMJ , vol.342 , pp. c7251
    • Van Bokhoven, M.A.1    Van Deursen, C.T.2    Swinkels, D.W.3
  • 55
    • 33746830877 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: A systematic review for the U.S. Preventive Services Task Force
    • Whitlock, E. P., Garlitz, B. A., Harris, E. L., Beil, T. L. & Smith, P. R. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann. Intern. Med. 145, 209-223 (2006).
    • (2006) Ann. Intern. Med. , vol.145 , pp. 209-223
    • Whitlock, E.P.1    Garlitz, B.A.2    Harris, E.L.3    Beil, T.L.4    Smith, P.R.5
  • 56
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G-4 A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler, E., Felitti, V. J., Koziol, J. A., Ho, N. J. & Gelbart, T. Penetrance of 845G-4 A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359, 211-218 (2002).
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 57
    • 44249111861 scopus 로고    scopus 로고
    • Iron-overload-related disease in HFE hereditary hemochromatosis
    • Allen, K. J. et al. Iron-overload-related disease in HFE hereditary hemochromatosis. New Engl. J. Med. 358, 221-230 (2008).
    • (2008) New Engl. J. Med. , vol.358 , pp. 221-230
    • Allen, K.J.1
  • 58
    • 14944345916 scopus 로고    scopus 로고
    • Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes
    • Pietrangelo, A. et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 128, 470-479 (2005).
    • (2005) Gastroenterology , vol.128 , pp. 470-479
    • Pietrangelo, A.1
  • 59
    • 79952428930 scopus 로고    scopus 로고
    • Mass spectrometry analysis of hepcidin peptides in experimental mouse models
    • Tjalsma, H. et al. Mass spectrometry analysis of hepcidin peptides in experimental mouse models. PLoS ONE 6, e16762 (2011).
    • (2011) PLoS ONE , vol.6 , pp. e16762
    • Tjalsma, H.1
  • 60
    • 73149083742 scopus 로고    scopus 로고
    • Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload
    • Wallace, D. F. et al. Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload. Hepatology 50, 1992-2000 (2009).
    • (2009) Hepatology , vol.50 , pp. 1992-2000
    • Wallace, D.F.1
  • 61
    • 33749393565 scopus 로고    scopus 로고
    • Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
    • Goswami, T. & Andrews, N. C. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J. Biol. Chem. 281, 28494-28498 (2006).
    • (2006) J. Biol. Chem. , vol.281 , pp. 28494-28498
    • Goswami, T.1    Andrews, N.C.2
  • 62
    • 60649103774 scopus 로고    scopus 로고
    • Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
    • Gao, J. et al. Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab. 9, 217-227 (2009).
    • (2009) Cell Metab. , vol.9 , pp. 217-227
    • Gao, J.1
  • 63
    • 0037818787 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation
    • Scotet, V. et al. Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am. J. Epidemiol. 158, 129-134 (2003).
    • (2003) Am. J. Epidemiol. , vol.158 , pp. 129-134
    • Scotet, V.1
  • 64
    • 75049084543 scopus 로고    scopus 로고
    • Genetic mechanisms and modifying factors in hereditary hemochromatosis
    • Weiss, G. Genetic mechanisms and modifying factors in hereditary hemochromatosis. Nat. Rev. Gastroenterol. Hepatol. 7, 50-58 (2010).
    • (2010) Nat. Rev. Gastroenterol. Hepatol. , vol.7 , pp. 50-58
    • Weiss, G.1
  • 65
    • 84896735777 scopus 로고    scopus 로고
    • A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis
    • Casanovas, G., Banerji, A., d'Alessio, F., Muckenthaler, M. U. & Legewie, S. A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis. PLoS Comput. Biol. 10, e1003421 (2014).
    • (2014) PLoS Comput. Biol. , vol.10 , pp. e1003421
    • Casanovas, G.1    Banerji, A.2    D'Alessio, F.3    Muckenthaler, M.U.4    Legewie, S.5
  • 66
    • 84891373826 scopus 로고    scopus 로고
    • Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation
    • Crespo, A. C. et al. Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation. Neurobiol. Aging 35, 777-785 (2014).
    • (2014) Neurobiol. Aging , vol.35 , pp. 777-785
    • Crespo, A.C.1
  • 67
    • 77955894071 scopus 로고    scopus 로고
    • METAL: Fast and efficient meta-analysis of genomewide association scans
    • Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 68
    • 58249124501 scopus 로고    scopus 로고
    • Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies
    • Duggal, P., Gillanders, E. M., Holmes, T. N. & Bailey-Wilson, J. E. Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies. BMC Genomics 9, 516 (2008).
    • (2008) BMC Genomics , vol.9 , pp. 516
    • Duggal, P.1    Gillanders, E.M.2    Holmes, T.N.3    Bailey-Wilson, J.E.4
  • 69
    • 77955064853 scopus 로고    scopus 로고
    • A versatile gene-based test for genome-wide association studies
    • Liu, J. Z. et al. A versatile gene-based test for genome-wide association studies. Am. J. Hum. Genet. 87, 139-145 (2010).
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 139-145
    • Liu, J.Z.1
  • 70
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra, H. J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238-1243 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1238-1243
    • Westra, H.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.