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Volumn 88, Issue 10, 2003, Pages 1110-1116

Identification of two novel mutations in the 5′untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning

Author keywords

Denaturing HPLC; DNA variations; Ferritin; Hyperferritinemia; Iron metabolism

Indexed keywords

DNA; FERRITIN; H FERRITIN; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 0242267566     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (27)

References (20)
  • 1
    • 0029758487 scopus 로고    scopus 로고
    • Molecular cortrol of vertebrate iron metabolism: mRNA based regulatory circuits operated by iron, nitric oxide, and oxidative stress
    • Hentze MW, Kuhn LC. Molecular cortrol of vertebrate iron metabolism: mRNA based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci USA 1996;93:8175-82.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 8175-8182
    • Hentze, M.W.1    Kuhn, L.C.2
  • 2
    • 0030608152 scopus 로고    scopus 로고
    • The ferritins: Molecular properties, iron storage function and cellular regulation
    • Harriso PM, Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta 1996;1275:161-203.
    • (1996) Biochim Biophys Acta , vol.1275 , pp. 161-203
    • Harriso, P.M.1    Arosio, P.2
  • 3
    • 0036430202 scopus 로고    scopus 로고
    • Hereditary hyperferritinaemia/cataract syndrome
    • Cazzola, M. Hereditary hyperferritinaemia/cataract syndrome. Best Prac Res Clinical Haematol 2002;15:385-98.
    • (2002) Best Prac Res Clinical Haematol , vol.15 , pp. 385-398
    • Cazzola, M.1
  • 4
    • 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 Gen 1995;11:444-6.
    • (1995) Nat Gen , 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
  • 5
    • 0030921671 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene
    • Girelli D, Corrocher R, Bisceglia L, Olivieri O, Zelante L, Panozzo G, et al. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood 1997;90:2084-8.
    • (1997) Blood , vol.90 , pp. 2084-2088
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3    Olivieri, O.4    Zelante, L.5    Panozzo, G.6
  • 6
    • 0032100487 scopus 로고    scopus 로고
    • Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome
    • Levi S, Girelli D, Perrone F, Pasti M, Beaumont C, Corrocher R, et al. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. Blood 1998;91:4180-7.
    • (1998) Blood , vol.91 , pp. 4180-4187
    • Levi, S.1    Girelli, D.2    Perrone, F.3    Pasti, M.4    Beaumont, C.5    Corrocher, R.6
  • 7
    • 0345419053 scopus 로고    scopus 로고
    • Scanning mutations of the 5′ UTR regulatory sequence of L ferritin by denaturing HPLC, comparison with DGDGGE
    • Cremonesi L, Paroni R, Foglieni B, Galbiati S, Fermo I, Soriani N, et al. Scanning mutations of the 5′ UTR regulatory sequence of L ferritin by denaturing HPLC, comparison with DGDGGE. Br J Haematol 2003;121:173-9.
    • (2003) Br J Haematol , vol.121 , pp. 173-179
    • Cremonesi, L.1    Paroni, R.2    Foglieni, B.3    Galbiati, S.4    Fermo, I.5    Soriani, N.6
  • 9
    • 0034964604 scopus 로고    scopus 로고
    • A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
    • Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001;69:191-7.
    • (2001) Am J Hum Genet , vol.69 , pp. 191-197
    • Kato, J.1    Fujikawa, K.2    Kanda, M.3    Fukuda, N.4    Sasaki, K.5    Takayama, T.6
  • 10
    • 0030660482 scopus 로고    scopus 로고
    • Structure and dynamics of the iron responsive element RNA: Implications for binding of the RNA by iron regulatory binding proteins
    • Addess KJ, Basilion JP, Klausner RD, Rouault TA, Pardi A. Structure and dynamics of the iron responsive element RNA: implications for binding of the RNA by iron regulatory binding proteins. J Mol Biol 1997;274:72-83.
    • (1997) J Mol Biol , vol.274 , pp. 72-83
    • Addess, K.J.1    Basilion, J.P.2    Klausner, R.D.3    Rouault, T.A.4    Pardi, A.5
  • 11
    • 0035437188 scopus 로고    scopus 로고
    • H ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload
    • Ferreira C, Santambrogio P, Martin ME, Andrieu V, Feldmann G, Henin D, et al. H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload. Blood 2001; 98:525-32.
    • (2001) Blood , vol.98 , pp. 525-532
    • Ferreira, C.1    Santambrogio, P.2    Martin, M.E.3    Andrieu, V.4    Feldmann, G.5    Henin, D.6
  • 13
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001;17:439-74.
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2
  • 15
    • 0034682761 scopus 로고    scopus 로고
    • Overexpression of wild type and mutated human ferritin H-chain in HeLa cells: In vivo role of ferritin ferroxidase activity
    • Cozzi A, Corsi B, Levi S, Santambrogio P, Albertini A, Arosio P. Overexpression of wild type and mutated human ferritin H-chain in HeLa cells: in vivo role of ferritin ferroxidase activity. J Biol Chem 2000;275:25122-9.
    • (2000) J Biol Chem , vol.275 , pp. 25122-25129
    • Cozzi, A.1    Corsi, B.2    Levi, S.3    Santambrogio, P.4    Albertini, A.5    Arosio, P.6
  • 16
    • 0035103330 scopus 로고    scopus 로고
    • Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemiacataract syndrome: Identification of the new mutation C14G
    • Cremonesi L, Fumagalli A, Soriani N, Ferrari M, Levi S, Belloli S, et al. Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemiacataract syndrome: identification of the new mutation C14G. Clin Chem 2001;47:491-7.
    • (2001) Clin Chem , vol.47 , pp. 491-497
    • Cremonesi, L.1    Fumagalli, A.2    Soriani, N.3    Ferrari, M.4    Levi, S.5    Belloli, S.6
  • 17
    • 0036183225 scopus 로고    scopus 로고
    • A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome
    • Cazzola M, Foglieni B, Bergamaschi G, Levi S, Lazzarino M, Arosio P. A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. Br J Haematol 2002;116:667-70.
    • (2002) Br J Haematol , vol.116 , pp. 667-670
    • Cazzola, M.1    Foglieni, B.2    Bergamaschi, G.3    Levi, S.4    Lazzarino, M.5    Arosio, P.6
  • 18
    • 0028928738 scopus 로고
    • Induction of ferritin synthesis by oxidative stress. Transcriptional and post-transcriptional regulation by expansion of the "free" iron pool
    • Cairo G, Tacchini L, Pogliaghi, G, Anzon, E, Tomasi A, Bernelli-Zazzera A. Induction of ferritin synthesis by oxidative stress. Transcriptional and post-transcriptional regulation by expansion of the "free" iron pool. J Biol Chem 1995;270 700-3.
    • (1995) J Biol Chem , pp. 270
    • Cairo, G.1    Tacchini, L.2    Pogliaghi, G.3    Anzon, E.4    Tomasi, A.5    Bernelli-Zazzera, A.6
  • 19
    • 0030060705 scopus 로고    scopus 로고
    • Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution
    • Picard V, Renaudie F, Porcher C, Hentze MW, Grandchamp B, Beaumont C. Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution. Blood 1996;87:2057-64.
    • (1996) Blood , vol.87 , pp. 2057-2064
    • Picard, V.1    Renaudie, F.2    Porcher, C.3    Hentze, M.W.4    Grandchamp, B.5    Beaumont, C.6
  • 20
    • 0033591465 scopus 로고    scopus 로고
    • Expanded sequence dependence of thermodynamic parameters provides robust prediction of RNA secondary structure
    • Mathews DH, Sabina J, Zuker M, Turner DH. Expanded sequence dependence of thermodynamic parameters provides robust prediction of RNA secondary structure. J Mol Biol 1999;288:911-40.
    • (1999) J Mol Biol , vol.288 , pp. 911-940
    • Mathews, D.H.1    Sabina, J.2    Zuker, M.3    Turner, D.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.