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Volumn 41, Issue 1, 2004, Pages 6-10

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

Author keywords

[No Author keywords available]

Indexed keywords

IRON;

EID: 9144251568     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.008805     Document Type: Article
Times cited : (30)

References (62)
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 4
    • 0030732164 scopus 로고    scopus 로고
    • 2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • 2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A 1997;94:12384-9.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3
  • 5
    • 0030712463 scopus 로고    scopus 로고
    • Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
    • Parkkila S, Waheed A, Britton RS, et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci U S A 1997;94:13198-202.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 13198-13202
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3
  • 6
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DN, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998;95:1472-7.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.N.2    Irrinki, A.3
  • 7
    • 0033574075 scopus 로고    scopus 로고
    • Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
    • Waheed A, Parkkila S, Saarnio J, et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc Natl Acad Sci U S A 1999;96:1579-84.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 1579-1584
    • Waheed, A.1    Parkkila, S.2    Saarnio, J.3
  • 8
    • 0033585129 scopus 로고    scopus 로고
    • The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor
    • Lebrón JA, West Jr AP, Bjorkman PJ. The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor. J Mol Biol 1999;294(1):239-45.
    • (1999) J Mol Biol , vol.294 , Issue.1 , pp. 239-245
    • Lebrón, J.A.1    West Jr., A.P.2    Bjorkman, P.J.3
  • 9
    • 0034610781 scopus 로고    scopus 로고
    • Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
    • Bennett MJ, Lébron JA, Bjorkman PJ. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 2000;403:46-53.
    • (2000) Nature , vol.403 , pp. 46-53
    • Bennett, M.J.1    Lébron, J.A.2    Bjorkman, P.J.3
  • 11
    • 0005600868 scopus 로고    scopus 로고
    • A simple genetic test identifies 90% of UK patients with haemochromatosis
    • Worwood M, Shearman JD, Wallace DF, et al. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41:841-4.
    • (1997) Gut , vol.41 , pp. 841-844
    • Worwood, M.1    Shearman, J.D.2    Wallace, D.F.3
  • 13
    • 0031047769 scopus 로고    scopus 로고
    • Mutations in the MHC class I-like gene for hemochromatosis in French patients
    • Borot N, Roth M-P, Malfroy L, et al. Mutations in the MHC class I-like gene for hemochromatosis in French patients. Immunogenetics 1997;45:320-4.
    • (1997) Immunogenetics , vol.45 , pp. 320-324
    • Borot, N.1    Roth, M.-P.2    Malfroy, L.3
  • 15
    • 0030884018 scopus 로고    scopus 로고
    • Homozygosity for the predominant Cys282Tyr mutation and the absence of disease expression in hereditary haemochromatosis
    • Rhodes DA, Raha-Chowdhury R, Cox TM, et al. Homozygosity for the predominant Cys282Tyr mutation and the absence of disease expression in hereditary haemochromatosis. J Med Genet 1997;34:761-4.
    • (1997) J Med Genet , vol.34 , pp. 761-764
    • Rhodes, D.A.1    Raha-Chowdhury, R.2    Cox, T.M.3
  • 16
    • 0031839335 scopus 로고    scopus 로고
    • The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
    • Merryweather-Clarke AT, Worwood M, Parkinson L, et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. B J Haematol 1998;101:369-73.
    • (1998) B J Haematol , vol.101 , pp. 369-373
    • Merryweather-Clarke, A.T.1    Worwood, M.2    Parkinson, L.3
  • 17
    • 0034883430 scopus 로고    scopus 로고
    • HFE mutations, iron deficiency and overload in 10,500 blood donors
    • Jackson HA, Carter K, Darke C, et al. HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol 2001;114:474-84.
    • (2001) Br J Haematol , vol.114 , pp. 474-484
    • Jackson, H.A.1    Carter, K.2    Darke, C.3
  • 18
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G->A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G->A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-18.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3
  • 19
    • 18544376989 scopus 로고    scopus 로고
    • Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis. A study of 9396 French people
    • Deugnier Y, Jouanolle A-M, Chaperon J, et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis. A study of 9396 French people. Br J Haematol 2002;118:1170-8.
    • (2002) Br J Haematol , vol.118 , pp. 1170-1178
    • Deugnier, Y.1    Jouanolle, A.-M.2    Chaperon, J.3
  • 20
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH. Modifier genes in mice and humans. Nat Rev Genet 2001;2:165-74.
    • (2001) Nat Rev Genet , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 21
    • 0035956992 scopus 로고    scopus 로고
    • Mouse strain differences determine severity of iron accumulation in HFE knockout model of hereditary hemochromatosis
    • Fleming RE, Holden CC, Tomatsu S, et al. Mouse strain differences determine severity of iron accumulation in HFE knockout model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 2001;98:2707-11.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 2707-2711
    • Fleming, R.E.1    Holden, C.C.2    Tomatsu, S.3
  • 22
    • 0034062537 scopus 로고    scopus 로고
    • Genes that modify the hemochromatosis phenotype in mice
    • Levy JE, Montross LK, Andrewes NC. Genes that modify the hemochromatosis phenotype in mice. J Clin Invest 2000;105:1209-16.
    • (2000) J Clin Invest , vol.105 , pp. 1209-1216
    • Levy, J.E.1    Montross, L.K.2    Andrewes, N.C.3
  • 23
    • 0036182842 scopus 로고    scopus 로고
    • Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains
    • Dupic F, Fruchon S, Bensaid M, et al. Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains. Gastroenterology 2002;122:745-51.
    • (2002) Gastroenterology , vol.122 , pp. 745-751
    • Dupic, F.1    Fruchon, S.2    Bensaid, M.3
  • 24
    • 0037847496 scopus 로고    scopus 로고
    • Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
    • Nicolas G, Viatte L, Lou D-Q, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003;34:97-101.
    • (2003) Nat Genet , vol.34 , pp. 97-101
    • Nicolas, G.1    Viatte, L.2    Lou, D.-Q.3
  • 25
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003;12:2241-7.
    • (2003) Hum Mol Genet , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 26
    • 0032515555 scopus 로고    scopus 로고
    • Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria
    • Fellman V, Rapola J, Pihko H, et al. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 1998;351:490-3.
    • (1998) Lancet , vol.351 , pp. 490-493
    • Fellman, V.1    Rapola, J.2    Pihko, H.3
  • 27
    • 0023688937 scopus 로고
    • Deletion of blood mitochondrial DNA in pancytopenia
    • Rotig A, Colonna M, Blanche S, et al. Deletion of blood mitochondrial DNA in pancytopenia. Lancet 1988;2(8610):576-8.
    • (1988) Lancet , vol.2 , Issue.8610 , pp. 576-578
    • Rotig, A.1    Colonna, M.2    Blanche, S.3
  • 28
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulpnur protein deficiency in Friedreich ataxia
    • Rotig A, de Lonlay P, Chretian D, et al. Aconitase and mitochondrial iron-sulpnur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-17.
    • (1997) Nat Genet , vol.17 , pp. 215-217
    • Rotig, A.1    De Lonlay, P.2    Chretian, D.3
  • 29
    • 0031467871 scopus 로고    scopus 로고
    • Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome C oxidase in two patients with acquired idiopathic sideroblastic anemia
    • Gattermann N, Retzlaff S, Wang Y-L, et al. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome C oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 1997;90:4961-72.
    • (1997) Blood , vol.90 , pp. 4961-4972
    • Gattermann, N.1    Retzlaff, S.2    Wang, Y.-L.3
  • 30
    • 0033039405 scopus 로고    scopus 로고
    • A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment
    • McDonnell SM, Preston BL, Jewell SA, et al. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 1999;106:619-24.
    • (1999) Am J Med , vol.106 , pp. 619-624
    • McDonnell, S.M.1    Preston, B.L.2    Jewell, S.A.3
  • 31
    • 0023003310 scopus 로고
    • The clinical features of mitochondrial myopathy
    • Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915-38.
    • (1986) Brain , vol.109 , pp. 915-938
    • Petty, R.K.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 32
    • 0033619178 scopus 로고    scopus 로고
    • Muscle, fatigue, and mitochondropathies
    • Griggs RC, Karpati G. Muscle, fatigue, and mitochondropathies. N Engl J Med 1999;341:1077-8.
    • (1999) N Engl J Med , vol.341 , pp. 1077-1078
    • Griggs, R.C.1    Karpati, G.2
  • 33
    • 15644370476 scopus 로고    scopus 로고
    • A common mitochondrial DNA variant is associated with insulin resistance in adult life
    • Poulton J, Scott Brown M, Cooper A, et al. A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 1998;41:54-8.
    • (1998) Diabetologia , vol.41 , pp. 54-58
    • Poulton, J.1    Scott Brown, M.2    Cooper, A.3
  • 34
    • 0031731693 scopus 로고    scopus 로고
    • Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype?
    • Poulton J. Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype? Trends in Genetics 1998;14:387-9.
    • (1998) Trends in Genetics , vol.14 , pp. 387-389
    • Poulton, J.1
  • 35
    • 0037096760 scopus 로고    scopus 로고
    • Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
    • Poulton J, Luan J, Macaulay V, et al. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet 2002;11:1581-3.
    • (2002) Hum Mol Genet , vol.11 , pp. 1581-1583
    • Poulton, J.1    Luan, J.2    Macaulay, V.3
  • 36
    • 0005952452 scopus 로고    scopus 로고
    • Is the 16189 mitochondrial DNA variant the thrifty gene? Evidence from a population comparison in New Zealand
    • Poulton J, Bednarz A, Scott-Brown M, et al. Is the 16189 mitochondrial DNA variant the thrifty gene? Evidence from a population comparison in New Zealand. Diabet Med 1999;16:68.
    • (1999) Diabet Med , vol.16 , pp. 68
    • Poulton, J.1    Bednarz, A.2    Scott-Brown, M.3
  • 37
    • 0034680825 scopus 로고    scopus 로고
    • The role of mitochondria in the regulation of hypoxia-inducible factor 1 expression during hypoxia
    • Agani FH, Pichiule P, Chavez JC, et al. The role of mitochondria in the regulation of hypoxia-inducible factor 1 expression during hypoxia. J Biol Chem 2000;275:35863-7.
    • (2000) J Biol Chem , vol.275 , pp. 35863-35867
    • Agani, F.H.1    Pichiule, P.2    Chavez, J.C.3
  • 38
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-51.
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 39
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-70.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 40
    • 0037318638 scopus 로고    scopus 로고
    • A targetted approach significantly increases the identification rate of patients with undiagnosed hoemochromotosis
    • Cadet E, Capron D, Perez AS, et al. A targetted approach significantly increases the identification rate of patients with undiagnosed hoemochromotosis. J Intern Med 2003;253:217-24.
    • (2003) J Intern Med , vol.253 , pp. 217-224
    • Cadet, E.1    Capron, D.2    Perez, A.S.3
  • 42
    • 0008266874 scopus 로고    scopus 로고
    • Polymorphism in infron 4 of HFE does not compromise haemochromatosis mutation results
    • Merryweather-Clarke AT, Pointon JJ, Shearman JD, et al. Polymorphism in infron 4 of HFE does not compromise haemochromatosis mutation results. Nat Genet 1999;23:271.
    • (1999) Nat Genet , vol.23 , pp. 271
    • Merryweather-Clarke, A.T.1    Pointon, J.J.2    Shearman, J.D.3
  • 43
    • 0000865751 scopus 로고    scopus 로고
    • A single tube heteroduplex PCR for the common HFE genotypes
    • Worwood M, Jackson HA, Feeney GP, et al. A single tube heteroduplex PCR for the common HFE genotypes. Blood 1999;94:405a.
    • (1999) Blood , vol.94
    • Worwood, M.1    Jackson, H.A.2    Feeney, G.P.3
  • 44
    • 0029881588 scopus 로고    scopus 로고
    • Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
    • Marchington DR, Poulton J, Sellar A, et al. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet 1996;5:473-9.
    • (1996) Hum Mol Genet , vol.5 , pp. 473-479
    • Marchington, D.R.1    Poulton, J.2    Sellar, A.3
  • 45
    • 0031671129 scopus 로고    scopus 로고
    • Phylogeography of mitochondrial DNA in Western Europe
    • Richards MB, Macaulay VA, Bandelt HJ, et al. Phylogeography of mitochondrial DNA in Western Europe. Ann Hum Genet 1998;62:241-60.
    • (1998) Ann Hum Genet , vol.62 , pp. 241-260
    • Richards, M.B.1    Macaulay, V.A.2    Bandelt, H.J.3
  • 46
    • 0033764821 scopus 로고    scopus 로고
    • Tracing European founder lineages in the near Eastern mtDNA pool
    • Richards M, Macoulay V, Hickey E, et al. Tracing European founder lineages in the near Eastern mtDNA pool. Am J Hum Genet 2000;67:1251-76.
    • (2000) Am J Hum Genet , vol.67 , pp. 1251-1276
    • Richards, M.1    Macoulay, V.2    Hickey, E.3
  • 47
    • 0033135836 scopus 로고    scopus 로고
    • Mitochondrial 16189 variant, thinness at birth and type-2 diabetes, ALSPAC study team
    • Casteels K, Ong K, Phillips D, et al. Mitochondrial 16189 variant, thinness at birth and type-2 diabetes, ALSPAC study team. Lancet 1999;353:1499-1500.
    • (1999) Lancet , vol.353 , pp. 1499-1500
    • Casteels, K.1    Ong, K.2    Phillips, D.3
  • 48
    • 0027496282 scopus 로고
    • The application of mitochondrial DNA typing to the study of while Caucasian genetic identification
    • Piercy R, Sullivan KM, Benson N, et al. The application of mitochondrial DNA typing to the study of while Caucasian genetic identification. Int J Legal Med 1993;106:85-90.
    • (1993) Int J Legal Med , vol.106 , pp. 85-90
    • Piercy, R.1    Sullivan, K.M.2    Benson, N.3
  • 49
    • 0029906933 scopus 로고    scopus 로고
    • A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region
    • Miller KW, Dawson JL, Hagelberg E. A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region. Int J Legal Med 1996;109:107-13.
    • (1996) Int J Legal Med , vol.109 , pp. 107-113
    • Miller, K.W.1    Dawson, J.L.2    Hagelberg, E.3
  • 50
    • 0030792094 scopus 로고    scopus 로고
    • Oxygen-regulated transferrin expression is mediated by hypoxia-inducible factor-1
    • Rolfs A, Kvietikova I, Gassmann M, et al. Oxygen-regulated transferrin expression is mediated by hypoxia-inducible factor-1. J Biol Chem 1997;272:20055-62.
    • (1997) J Biol Chem , vol.272 , pp. 20055-20062
    • Rolfs, A.1    Kvietikova, I.2    Gassmann, M.3
  • 51
    • 0033588021 scopus 로고    scopus 로고
    • Transferrin receptor induction by hypoxia HIF-1-mediated transcriptional activation and cell-specific post-transcriptional regulation
    • Tacchini L, Bianchi L, Bernelli-Zazzera A, et al. Transferrin receptor induction by hypoxia HIF-1-mediated transcriptional activation and cell-specific post-transcriptional regulation. J Biol Chem 1999;274:24142-6.
    • (1999) J Biol Chem , vol.274 , pp. 24142-24146
    • Tacchini, L.1    Bianchi, L.2    Bernelli-Zazzera, A.3
  • 52
    • 0029029016 scopus 로고
    • Hypoxia alters iron homeostasis and induces ferritin synthesis in oligodendrocytes
    • Qi Y, Jamindar TM, Dawson G. Hypoxia alters iron homeostasis and induces ferritin synthesis in oligodendrocytes. J Neurochem 1995;64:2458-64.
    • (1995) J Neurochem , vol.64 , pp. 2458-2464
    • Qi, Y.1    Jamindar, T.M.2    Dawson, G.3
  • 53
    • 0034647742 scopus 로고    scopus 로고
    • Role of hypoxia-inducible factor-1 transcriptional activation of ceruloplasmin by iron deficiency
    • Mukhopadhyay CK, Mazumder B, Fox PL. Role of hypoxia-inducible factor-1 transcriptional activation of ceruloplasmin by iron deficiency. J Biol Chem 2000;275:21048-54.
    • (2000) J Biol Chem , vol.275 , pp. 21048-21054
    • Mukhopadhyay, C.K.1    Mazumder, B.2    Fox, P.L.3
  • 54
    • 0033952364 scopus 로고    scopus 로고
    • Induction of heme oxygenase-1 hypoxia and free radicals in human dermal fibroblasts
    • Panchenko MV, Farber HW, Korn JH. Induction of heme oxygenase-1 hypoxia and free radicals in human dermal fibroblasts. Am J Physiol Cell Physiol 2000;278:C92-C101.
    • (2000) Am J Physiol Cell Physiol , vol.278
    • Panchenko, M.V.1    Farber, H.W.2    Korn, J.H.3
  • 55
    • 0036791486 scopus 로고    scopus 로고
    • The gene encoding the iron regulatory peptide hepcidin is regulated by anemia
    • Nicolas G, Chauvet C, Viatte L, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia. J Clin Invest 2002;110:1037-44.
    • (2002) J Clin Invest , vol.110 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viatte, L.3
  • 56
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis
    • Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis. Lancet 2003;361:669-73.
    • (2003) Lancet , vol.361 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 57
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile haemochromatosis
    • Roetto A, Papanikoloau G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile haemochromatosis. Nat Genet 2003;33:21-2.
    • (2003) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikoloau, G.2    Politou, M.3
  • 58
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
    • Nemeth E, Valore EV, Territo M, et al. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003;101:2461-3.
    • (2003) Blood , vol.101 , pp. 2461-2463
    • Nemeth, E.1    Valore, E.V.2    Territo, M.3
  • 59
    • 0035313402 scopus 로고    scopus 로고
    • What regulates mitochondrial DNA copy number in animal cells?
    • Moraes CT. What regulates mitochondrial DNA copy number in animal cells? Trends in Genetics 2001;17:199-205.
    • (2001) Trends in Genetics , vol.17 , pp. 199-205
    • Moraes, C.T.1
  • 60
    • 0032481297 scopus 로고    scopus 로고
    • Multiple protein-binding sites in the TAS region of human and rat mitochondrial DNA
    • Roberti M, Musicco C, Polosa PL, et al. Multiple protein-binding sites in the TAS region of human and rat mitochondrial DNA. Biochem Biophys Res Commun 1998;243:36-40.
    • (1998) Biochem Biophys Res Commun , vol.243 , pp. 36-40
    • Roberti, M.1    Musicco, C.2    Polosa, P.L.3
  • 61
    • 1642508654 scopus 로고    scopus 로고
    • The 16189 variant of mtDNA in type 2 diabetes: Towards a molecular medicine
    • Morten K, Jen C, Poulton J. The 16189 variant of mtDNA in type 2 diabetes: towards a molecular medicine. Diabet Med 2003;20(suppl 2):13.
    • (2003) Diabet Med , vol.20 , Issue.2 SUPPL. , pp. 13
    • Morten, K.1    Jen, C.2    Poulton, J.3
  • 62
    • 0037082142 scopus 로고    scopus 로고
    • The role of heme and iron-sulfur clusters in mitochondrial biogenesis, maintenance, and decay with age
    • Atomna H, Walter PB, Ames BN. The role of heme and iron-sulfur clusters in mitochondrial biogenesis, maintenance, and decay with age. Arch Biochem Biophys 2002;397:345-53.
    • (2002) Arch Biochem Biophys , vol.397 , pp. 345-353
    • Atomna, H.1    Walter, P.B.2    Ames, B.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.