메뉴 건너뛰기




Volumn 53, Issue 12, 2007, Pages 2060-2069

Global sequencing approach for characterizing the molecular background of hereditary iron disorders

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; HEPCIDIN; TRANSFERRIN RECEPTOR 2;

EID: 36649003076     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.090605     Document Type: Article
Times cited : (31)

References (41)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class Hike gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class Hike 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    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 2
    • 0031213527 scopus 로고    scopus 로고
    • Compound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease?
    • Aguilar-Martinez P, Biron C, Blanc F, Masmejean C, Jeanjean P, Michel H, et al. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease? Blood Cells Mol Dis 1997;23:269-76.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 269-276
    • Aguilar-Martinez, P.1    Biron, C.2    Blanc, F.3    Masmejean, C.4    Jeanjean, P.5    Michel, H.6
  • 4
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
    • (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
  • 5
    • 19144362107 scopus 로고    scopus 로고
    • The evaluation of hyperferritinemia: An updated strategy based on advances in detecting genetic abnormalities
    • Aguilar-Martinez P, Schved JF, Brissot P. The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Am J Gastroenterol 2005;100:1185-94.
    • (2005) Am J Gastroenterol , vol.100 , pp. 1185-1194
    • Aguilar-Martinez, P.1    Schved, J.F.2    Brissot, P.3
  • 6
    • 33645112972 scopus 로고    scopus 로고
    • Molecular insights into the pathogenesis of hereditary haemochromatosis
    • Pietrangelo A. Molecular insights into the pathogenesis of hereditary haemochromatosis. Gut 2006;55:564-8.
    • (2006) Gut , vol.55 , pp. 564-568
    • Pietrangelo, A.1
  • 11
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum Mol Genet 2004;13:1913-8.
    • (2004) Hum Mol Genet , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3    Gourlaouen, I.4    Bryckaert, L.5    Jacolot, S.6
  • 13
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
    • Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-6.
    • (1995) Nat Genet , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuve, P.2    Devaux, I.3    Scoazec, J.Y.4    Berthier, M.5    Loiseau, M.N.6
  • 14
    • 0028788201 scopus 로고
    • Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
    • Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-3.
    • (1995) Blood , vol.86 , pp. 4050-4053
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3    Olivieri, O.4    De Franceschi, L.5    Zelante, L.6
  • 15
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3    Garuti, C.4    Pignatti, E.5    Cassanelli, S.6
  • 17
  • 20
    • 33749346050 scopus 로고    scopus 로고
    • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of Cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
    • Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of Cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 2006;43:763-8.
    • (2006) J Med Genet , vol.43 , pp. 763-768
    • Roux, A.F.1    Faugere, V.2    Le Guedard, S.3    Pallares-Ruiz, N.4    Vielle, A.5    Chambert, S.6
  • 21
    • 0029923481 scopus 로고    scopus 로고
    • High and low annealing temperatures increase both specificity and yield in touchdown and stepdown PCR
    • Hecker KH, Roux KH. High and low annealing temperatures increase both specificity and yield in touchdown and stepdown PCR. Biotechniques 1996;20:478-85.
    • (1996) Biotechniques , vol.20 , pp. 478-485
    • Hecker, K.H.1    Roux, K.H.2
  • 25
    • 0344514886 scopus 로고    scopus 로고
    • Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
    • Biasiotto G, Belloli S, Ruggeri G, Zanella I, Gerardi G, Corrado M, et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin Chem 2003;49:1981-8.
    • (2003) Clin Chem , vol.49 , pp. 1981-1988
    • Biasiotto, G.1    Belloli, S.2    Ruggeri, G.3    Zanella, I.4    Gerardi, G.5    Corrado, M.6
  • 26
    • 32544459576 scopus 로고    scopus 로고
    • Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism
    • Ferrari F, Foglieni B, Arosio P, Camaschella C, Daraio F, Levi S, et al. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. Hum Mutat 2006;27:201-8.
    • (2006) Hum Mutat , vol.27 , pp. 201-208
    • Ferrari, F.1    Foglieni, B.2    Arosio, P.3    Camaschella, C.4    Daraio, F.5    Levi, S.6
  • 27
    • 0031748051 scopus 로고    scopus 로고
    • Determination of angiotensin-converting enzyme gene polymorphisms: Stepdown PCR increases detection of heterozygotes
    • Chiang FT, Hsu KL, Chen WM, Tseng CD, Tseng YZ. Determination of angiotensin-converting enzyme gene polymorphisms: stepdown PCR increases detection of heterozygotes. Clin Chem 1998;44:1353-6.
    • (1998) Clin Chem , vol.44 , pp. 1353-1356
    • Chiang, F.T.1    Hsu, K.L.2    Chen, W.M.3    Tseng, C.D.4    Tseng, Y.Z.5
  • 30
    • 0036024851 scopus 로고    scopus 로고
    • Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
    • Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, et al. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002;20:218-26.
    • (2002) Hum Mutat , vol.20 , pp. 218-226
    • Casilli, F.1    Di Rocco, Z.C.2    Gad, S.3    Tournier, I.4    Stoppa-Lyonnet, D.5    Frebourg, T.6
  • 31
    • 0031744522 scopus 로고    scopus 로고
    • Proof of "disease causing" mutation
    • Cotton RG, Scriver CR. Proof of "disease causing" mutation. Hum Mutat 1998;12:1-3.
    • (1998) Hum Mutat , vol.12 , pp. 1-3
    • Cotton, R.G.1    Scriver, C.R.2
  • 32
    • 24144454235 scopus 로고    scopus 로고
    • The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein
    • Ka C, Le Gac G, Dupradeau FY, Rochette J, Ferec C. The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. Hum Genet 2005;117:467-75.
    • (2005) Hum Genet , vol.117 , pp. 467-475
    • Ka, C.1    Le Gac, G.2    Dupradeau, F.Y.3    Rochette, J.4    Ferec, C.5
  • 33
    • 0036461322 scopus 로고    scopus 로고
    • A previously undescribed nonsense mutation of the HFE gene
    • Beutler E, Griffin MJ, Gelbart T, West C. A previously undescribed nonsense mutation of the HFE gene. Clin Genet 2002;61:40-2.
    • (2002) Clin Genet , vol.61 , pp. 40-42
    • Beutler, E.1    Griffin, M.J.2    Gelbart, T.3    West, C.4
  • 34
    • 3042553275 scopus 로고    scopus 로고
    • A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote
    • Barton JC, West C, Lee PL, Beutler E. A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote. Clin Genet 2004;66:214-6.
    • (2004) Clin Genet , vol.66 , pp. 214-216
    • Barton, J.C.1    West, C.2    Lee, P.L.3    Beutler, E.4
  • 36
    • 34247648126 scopus 로고    scopus 로고
    • Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl
    • Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J. Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. Haematologica 2007;92:421-2.
    • (2007) Haematologica , vol.92 , pp. 421-422
    • Aguilar-Martinez, P.1    Lok, C.Y.2    Cunat, S.3    Cadet, E.4    Robson, K.5    Rochette, J.6
  • 37
    • 0030811101 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
    • Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood 1997;90:814-21.
    • (1997) Blood , vol.90 , pp. 814-821
    • Cazzola, M.1    Bergamaschi, G.2    Tonon, L.3    Arbustini, E.4    Grasso, M.5    Vercesi, E.6
  • 38
    • 0031975341 scopus 로고    scopus 로고
    • A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
    • Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood 1998;91:319-23.
    • (1998) Blood , vol.91 , pp. 319-323
    • Martin, M.E.1    Fargion, S.2    Brissot, P.3    Pellat, B.4    Beaumont, C.5
  • 39
    • 0031214035 scopus 로고    scopus 로고
    • New diallelic markers in the HLA region of chromosome 6
    • Beutler E, West C. New diallelic markers in the HLA region of chromosome 6. Blood Cells Mol Dis 1997;23:219-29.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 219-229
    • Beutler, E.1    West, C.2
  • 41
    • 0036133044 scopus 로고    scopus 로고
    • AliBaba2: Context specific identification of transcription factor binding sites
    • Grabe N. AliBaba2: context specific identification of transcription factor binding sites. In Silico Biol 2002;2:S1-15.
    • (2002) In Silico Biol , vol.2
    • Grabe, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.