Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Nature Genetics

Volumn 33, Issue 1, 2003, Pages 21-22

  Roettol, Antonella ^a   Papanikolaou, George ^b   Politou, Marianna ^b   Alberti, Federica ^a   Girelli, Domenico ^c   Christakis, John ^d   Loukopoulos, Dimitris ^b   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c UNIVERSITY OF VERONA   (Italy)

^d THEAGENIO CANCER HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIINFECTIVE AGENT; COMPLEMENTARY DNA; GUANINE; HEPCIDIN; MUTANT PROTEIN; PEPTIDE; RNA; TRANSFERRIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CHROMOSOME 19Q; CHROMOSOME 1Q; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEMOCHROMATOSIS; HUMAN; HUMAN EXPERIMENT; HYPOGONADISM; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER FIBROSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENTIAL ANALYSIS; STOP CODON;

AMINO ACID SEQUENCE; ANTIMICROBIAL CATIONIC PEPTIDES; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HEMOCHROMATOSIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

ANIMALIA; MAMMALIA;

EID: 20244388240     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1053     Document Type: Article

References (15)

1. Feder, J. N. et al. Nat. Genet. 13, 399-408 (1996).
2. Camaschella, C. et al. Nat. Genet, 25, 14-15 (2000).
3. Roetto, A. et al. Blood 97, 2555-2560 (2001).
4. Montosi, G. et al. J. Clin. Invest. 108, 619-623 (2001).
5. Njajou, O.T. et al. Nat. Genet. 28, 213-214 (2001).
6. Camaschella, C. et al. Eur. J. Hum. Genet. 5, 371-375 (1997).
7. De Gobbi, M. et al. Br. J. Haematol. 117, 973-979 (2002).
8. Roetto, A. et al. Am. J. Hum. Genet. 64, 1388-1393 (1999).
9. Papanikolaou, G. et al. Blood Cells Mol. Dis, 29, 168-173 (2002).
10. Nicolas, G. et al. Proc. Natl. Acad. Sci. USA 98, 8780-8785 (2001).
11. Nicolas, G. et al. Proc. Natl. Acad. Sci. USA 99, 4596-4601 (2002).
12. Park, C.H., Valore, E.V., Waring, A.J. & Ganz, T. J. Biol. Chem. 276, 7806-7810 (2001).
13. Krause, A. et al. FEBS Lett. 480, 147-150 (2000).
14. Pigeon, C. et al. J. Biol. Chem. 276, 7811-7819 (2001).
15. Weinstein, D.A, et al. Blood 100, 3776-3781 (2002).