Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 141-142

  Chavanas, Stéphane ^a   Bodemer, Christine ^b   Rochat, Ariane ^g   Hamel Teillac, Dominique ^b   Ali, Mohsin ^c   Irvine, Alan D ^d   Bonafé, Jean Louis ^e   Wilkinson, John ^c   Taïeb, Alain ^f   Barrandon, Yann ^g   Harper, John I ^d   De Prost, Yves ^b   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c AMERSHAM HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e CHU RANGUEIL   (France)

^f HÔPITAL SAINT ANDRÉ   (France)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEINASE INHIBITOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DATA BASE; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR WEIGHT; NETHERTON DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEINASE INHIBITION; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 5; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; INTRONS; MUTATION; RNA, MESSENGER; SERINE PROTEINASE INHIBITORS; SYNDROME;

EID: 0034120666     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75977     Document Type: Article

References (15)

1. Traupe, H. The Ichthyosis. A Guide To Clinical Diagnosis, Genetic Counselling, And Therapy (Springer, Berlin, 1989).
2. Chavanas, S. et al. Am. J. Hum. Genet. 66, 914-921 (2000).
3. Magert, H.J. et al. J. Biol. Chem. 274, 21499-21502 (1999).
4. Werb, Z. Cell 91, 439-442 (1997).
5. Lentsch, A. et al. Am. J. Pathol. 154, 239-247 (1999).
6. Rossi, A., Elia, G. & Santoro, M.G. J. Biol. Chem. 273, 16446-16452 (1998).
7. Culbertson, M.R. Trends Genet. 15, 74-80 (1999).
8. Toomes, C. et al. Nature Genet. 23, 421-424 (1999).
9. Fartasch, M., Williams, M.L. & Elias, P.M. Arch. Dermatol. 135, 823-832 (1999).
10. Oettgen, H.C. & Geha, R.S. J. Clin. Invest. 104, 829-835 (1999).
11. Ober, C. et al. Am. J. Hum. Genet. 66, 517-526 (2000).
12. Hershey, G.K., Friedrich, M.F., Esswein, L.A., Thomes, M.L. & Chatila, T.A. N. Engl. J. Med. 337, 1720-1725 (1997).
13. Heinzmann, A. et al. Hum. Mol. Genet. 9, 549-559 (2000).
14. Villa, A. et al. Cell 93, 885-896 (1998).
15. Grand, R.J.A., Turnell, A.S. & Grabham, P.W. Biochem. J. 313, 353-368 (1996).