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Volumn 121, Issue 1, 2003, Pages 173-179

Scanning mutations of the 5′UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: Identification of new mutations

Author keywords

Denaturing HPLC; DNA variations; Ferritin; Hereditary hyperferritinaemia cataract syndrome; Iron metabolism

Indexed keywords

CYTOSINE; DNA; FERRITIN; GUANINE; LEVO FERRITIN; UNCLASSIFIED DRUG;

EID: 0345419053     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04253.x     Document Type: Article
Times cited : (31)

References (21)
  • 1
    • 0033543569 scopus 로고    scopus 로고
    • Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
    • Allerson, C.R., Cazzola, M. & Rouault, T.A. (1999) Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. Journal of Biological Chemistry, 274, 26439-26447.
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 26439-26447
    • Allerson, C.R.1    Cazzola, M.2    Rouault, T.A.3
  • 2
    • 0033055320 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the L-ferritin gene
    • Arosio, C., Fossati, L., Vigano, M., Trombini, P., Cazzaniga, G. & Piperno, A. (1999) Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. Haematologica, 84, 560-561.
    • (1999) Haematologica , vol.84 , pp. 560-561
    • Arosio, C.1    Fossati, L.2    Vigano, M.3    Trombini, P.4    Cazzaniga, G.5    Piperno, A.6
  • 3
    • 0033151541 scopus 로고    scopus 로고
    • Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family
    • Balas, A., Aviles, M.J., Garcia-Sanchez, F. & Vicario, J.L. (1999) Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. Blood, 93, 4020-4021.
    • (1999) Blood , vol.93 , pp. 4020-4021
    • Balas, A.1    Aviles, M.J.2    Garcia-Sanchez, F.3    Vicario, J.L.4
  • 5
    • 0034117221 scopus 로고    scopus 로고
    • A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins
    • Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P. & Levi, S. (2000) A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins. British Journal of Haematology, 108, 480-482.
    • (2000) British Journal of Haematology , vol.108 , pp. 480-482
    • Camaschella, C.1    Zecchina, G.2    Lockitch, G.3    Roetto, A.4    Campanella, A.5    Arosio, P.6    Levi, S.7
  • 8
    • 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., Barosi, G., Bianchi, P.E., Cairo, G. & Arosio, P. (1997) Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood, 90, 814-821.
    • (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    Barosi, G.7    Bianchi, P.E.8    Cairo, G.9    Arosio, P.10
  • 9
    • 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. (2002) A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. British Journal of Haematology, 116, 667-670.
    • (2002) British Journal of Haematology , vol.116 , pp. 667-670
    • Cazzola, M.1    Foglieni, B.2    Bergamaschi, G.3    Levi, S.4    Lazzarino, M.5    Arosio, P.6
  • 10
    • 0032995924 scopus 로고    scopus 로고
    • Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome
    • Cicilano, M., Zecchina, G., Roetto, A., Bosio, S., Infelise, V., Stefani, S., Mazza, U. & Camaschella, C. (1999) Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. Haematologica, 84, 489-492.
    • (1999) Haematologica , vol.84 , pp. 489-492
    • Cicilano, M.1    Zecchina, G.2    Roetto, A.3    Bosio, S.4    Infelise, V.5    Stefani, S.6    Mazza, U.7    Camaschella, C.8
  • 12
    • 0035103330 scopus 로고    scopus 로고
    • Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: Identification of the new mutation C14G
    • Cremonesi, L., Fumagalli, A., Soriani, N., Ferrari, M., Levi, S., Belloli, S., Ruggeri, G. & Arosio, P. (2001) Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G. Clinical Chemistry, 47, 491-497.
    • (2001) Clinical Chemistry , vol.47 , pp. 491-497
    • Cremonesi, L.1    Fumagalli, A.2    Soriani, N.3    Ferrari, M.4    Levi, S.5    Belloli, S.6    Ruggeri, G.7    Arosio, P.8
  • 14
    • 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. & Gasparini, P. (1997) Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood, 90, 2084-2088.
    • (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    Gasparini, P.7
  • 16
    • 0003217939 scopus 로고    scopus 로고
    • L-Ferritin Baltimore-1: A novel mutation in the iron responsive element (C32G) as a cause of hyperferritinemia-cataract syndrome
    • Kato, G.J. & Casella, F. (1999) L-Ferritin Baltimore-1: a novel mutation in the iron responsive element (C32G) as a cause of hyperferritinemia-cataract syndrome. Blood, 94, 407a.
    • (1999) Blood , vol.94
    • Kato, G.J.1    Casella, F.2
  • 17
    • 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., Albertini, A. & Arosio, P. (1998) Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. Blood, 91, 4180-4187.
    • (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    Albertini, A.7    Arosio, P.8
  • 18
    • 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, M.E., Fargion, S., Brissot, P., Pellat, B. & Beaumont, C. (1998) 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, 91, 319-323.
    • (1998) Blood , vol.91 , pp. 319-323
    • Martin, M.E.1    Fargion, S.2    Brissot, P.3    Pellat, B.4    Beaumont, C.5
  • 19
    • 0031965464 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
    • Mumford, A.D., Vulliamy, T., Lindsay, J. & Watson, A. (1998) Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. Blood, 91, 367-368.
    • (1998) Blood , vol.91 , pp. 367-368
    • Mumford, A.D.1    Vulliamy, T.2    Lindsay, J.3    Watson, A.4
  • 21
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao, W. & Oefner, P.J. (2001) Denaturing high-performance liquid chromatography: a review. Human Mutation, 17, 439-474.
    • (2001) Human Mutation , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.