메뉴 건너뛰기




Volumn 17, Issue , 2011, Pages 1011-1015

Hematologic biomarkers in childhood cataracts

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

EID: 79955610741     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (20)
  • 2
    • 0030012892 scopus 로고    scopus 로고
    • Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei
    • PMID: 8670754
    • Al-Ghoul KJ, Costello MJ. Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei. Curr Eye Res 1996; 15:533-542. [PMID: 8670754]
    • (1996) Curr Eye Res , vol.15 , pp. 533-542
    • Al-Ghoul, K.J.1    Costello, M.J.2
  • 3
    • 0037862721 scopus 로고    scopus 로고
    • Molecular biology and inherited disorders of the eye lens
    • In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW et al., editors, New York: McGraw Hill
    • Hejtmancik JF, Kaiser-Kupfer MI, Piatigorsky J. Molecular biology and inherited disorders of the eye lens. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW et al., editors. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw Hill; 2001. p. 6033-6062.
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 6033-6062
    • Hejtmancik, J.F.1    Kaiser-Kupfer, M.I.2    Piatigorsky, J.3
  • 4
    • 79955577839 scopus 로고    scopus 로고
    • Congenital cataracts associated with multisystem diseases
    • 2nd ed. New York: Tailor and Francis Group
    • Merin S. Congenital cataracts associated with multisystem diseases. In: Inherited eye diseases diagnosis and management, 2nd ed. New York: Tailor and Francis Group; 2005. p. 139-166.
    • (2005) Inherited Eye Diseases Diagnosis and Management , pp. 139-166
    • Merin, S.1
  • 5
    • 9644275422 scopus 로고    scopus 로고
    • A nationwide Danish study of 1027 cases of congenital/ infantile cataracts: Etiological and clinical classifications
    • PMID: 15582089
    • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/ infantile cataracts: etiological and clinical classifications. Ophthalmology 2004; 111:2292-2298. [PMID: 15582089]
    • (2004) Ophthalmology , vol.111 , pp. 2292-2298
    • Haargaard, B.1    Wohlfahrt, J.2    Fledelius, H.C.3    Rosenberg, T.4    Melbye, M.5
  • 6
    • 0004081969 scopus 로고
    • 2nd ed. Montgomery Scientific Publications Durham, NC
    • Judd WJ. Methods in Immunohematolog. 2nd ed. Montgomery Scientific Publications Durham, NC; 1994. p. 224-226.
    • (1994) Methods In Immunohematolog , pp. 224-226
    • Judd, W.J.1
  • 7
    • 0018839260 scopus 로고
    • The measurement and interpretation of serum ferritin
    • PMID: 7004332
    • Forman DT, Parker SL. The measurement and interpretation of serum ferritin. Ann Clin Lab Sci 1980; 10:345-350. [PMID: 7004332]
    • (1980) Ann Clin Lab Sci , vol.10 , pp. 345-350
    • Forman, D.T.1    Parker, S.L.2
  • 8
    • 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")
    • PMID: 7492760
    • Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. 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; 86:4050-4053. [PMID: 7492760]
    • (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    Gasparini, P.7
  • 10
    • 0034210637 scopus 로고    scopus 로고
    • Translational pathophysiology: A novel molecular mechanism of human disease
    • PMID: 10828006
    • Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000; 95:3280-3288. [PMID: 10828006]
    • (2000) Blood , vol.95 , pp. 3280-3288
    • Cazzola, M.1    Skoda, R.C.2
  • 11
    • 0032995924 scopus 로고    scopus 로고
    • Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia cataract syndrome
    • PMID: 10366790
    • Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia cataract syndrome. Haematologica 1999; 84:489-492. [PMID: 10366790]
    • (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
    • 33344478786 scopus 로고    scopus 로고
    • Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin
    • PMID: 16518306
    • Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nürnberg P, Singh D, Sperling K, Singh JR. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis 2006; 12:93-99. [PMID: 16518306]
    • (2006) Mol Vis , vol.12 , pp. 93-99
    • Vanita, V.1    Hejtmancik, J.F.2    Hennies, H.C.3    Guleria, K.4    Nürnberg, P.5    Singh, D.6    Sperling, K.7    Singh, J.R.8
  • 13
    • 0031975341 scopus 로고    scopus 로고
    • A point mutation in the bulge of the the L-ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
    • PMID: 9414300
    • Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the the L-ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91:319-323. [PMID: 9414300]
    • (1998) Blood , vol.91 , pp. 319-323
    • Martin, M.E.1    Fargion, S.2    Brissot, P.3    Pellat, B.4    Beaumont, C.5
  • 14
    • 0033543569 scopus 로고    scopus 로고
    • Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
    • PMID: 10473603
    • Allerson CR, Cazzola M, Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. J Biol Chem 1999; 274:26439-26447. [PMID: 10473603]
    • (1999) J Biol Chem , vol.274 , pp. 26439-26447
    • Allerson, C.R.1    Cazzola, M.2    Rouault, T.A.3
  • 15
    • 0025317127 scopus 로고
    • Structural requirements of ironresponsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA posttranscriptional regulation
    • PMID: 2336358
    • Leibold EA, Laudano A, Yu Y. Structural requirements of ironresponsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA posttranscriptional regulation. Nucleic Acids Res 1990; 18:1819-1824. [PMID: 2336358]
    • (1990) Nucleic Acids Res , vol.18 , pp. 1819-1824
    • Leibold, E.A.1    Laudano, A.2    Yu, Y.3
  • 16
    • 0027439334 scopus 로고
    • The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure
    • PMID: 8233801
    • Jaffrey SR, Haile DJ, Klausner RD, Harford JB. The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. Nucleic Acids Res 1993; 21:4627-4631. [PMID: 8233801]
    • (1993) Nucleic Acids Res , vol.21 , pp. 4627-4631
    • Jaffrey, S.R.1    Haile, D.J.2    Klausner, R.D.3    Harford, J.B.4
  • 17
    • 0036050644 scopus 로고    scopus 로고
    • Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin
    • PMID: 12200611
    • Campagnoli MF, Pimazzoni R, Bosio S, Zecchina G, DeGobbi M, Bosso P, Oldani B, Ramenghi U. Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin. Eur J Pediatr 2002; 161:499-502. [PMID: 12200611]
    • (2002) Eur J Pediatr , vol.161 , pp. 499-502
    • Campagnoli, M.F.1    Pimazzoni, R.2    Bosio, S.3    Zecchina, G.4    Degobbi, M.5    Bosso, P.6    Oldani, B.7    Ramenghi, U.8
  • 18
    • 3042580045 scopus 로고    scopus 로고
    • A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2):Association with autosomal recessive congenital cataracts
    • PMID: 15161861
    • Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2):association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004; 45:1940-1945. [PMID: 15161861]
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1940-1945
    • Pras, E.1    Raz, J.2    Yahalom, V.3    Frydman, M.4    Garzozi, H.J.5    Pras, E.6    Hejtmancik, J.F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.