Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region

Clinical Biochemistry

Volumn 42, Issue 9, 2009, Pages 911-914

  Faniello, Maria Concetta ^a   Di Sanzo, Maddalena ^a   Quaresima, Barbara ^a   Nisticò, Antonia ^b   Fregola, Annalisa ^a   Grosso, Michela ^c   Cuda, Giovanni ^a   Costanzo, Francesco ^a  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b PUGLIESE CIACCIO HOSPITAL   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Bilateral cataract; Ferritin; Gene promoter; Transcriptional regulation

Indexed keywords

FERRITIN; L FERRITIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; CATARACT; CLINICAL EVALUATION; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; ITALY; MAJOR CLINICAL STUDY; MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION;

CATARACT; FERRITINS; HELA CELLS; HUMANS; ITALY; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 67349095719     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.02.013     Document Type: Article

References (9)

1. Arosio P., Adelman T.G., and Drysdale J.W. On ferritin heterogeneity. J. Biol. Chem. 253 (1978) 4451-4458
2. Ruggeri G., Iacobello C., Albertini A., Brocchi E., Levi S., Gabri E., and Arosio P. Ferritins and isoferritins as biochemical markers. In: Albertini A., Arosio P., Chiancone E., and Drysdale J.W. (Eds). Studies of Human Isoferritins in Tissues and Body Fluids (1984), Elsevier, Amsterdam 67-78
3. Aziz N., and Munro N. Iron regulates ferritin mRNA translation through a segment of its 5′ untranslated region. Proc. Natl. Acad. Sci. 84 (1987) 478-8482
4. D'Agostino P., Faniello M.C., Quaresima B., Bevilacqua M.A., Tiano M.T., Ammendola R., Cimino F., and Costanzo F. Negative and positive elements in the promoter region of the human apoferritin L gene. Bioch. and. Bioph. Res. Communic. 215 (1995) 329-337
5. Graham F.L., and van der Eb A.J. A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology 52 (1973) 456-467
6. Oliner J.D., Pietenpol J.A., Thiagalingam S., Gyuris J., Kinzler K.W., and Vogelstein B. Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53. Nature 362 (1993) 857-860
7. Livak K.J., and Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(- Delta Delta C(T). Methods 25 (2001) 402-408
8. Quaresima B., Grandinetti C., Baudi F., Tassone P., Barbieri V., Conforti S., Avvedimento E.V., Costanzo F., and Venuta S. Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. Online. Hum. Mutat. 12 (1998) 433
9. Cazzola M. Hereditary hyperferritinaemia/cataract syndrome. Best. Pract. Res. Clin. Haematol. 2 (2002) 385-398