Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
Détails
ID Serval
serval:BIB_538BC373D557
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
Périodique
Nature Genetics
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
06/2000
Volume
25
Numéro
2
Pages
141-2
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Research Support, Non-U.S. Gov't --- Old month value: Jun
Résumé
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.
Mots-clé
Abnormalities, Multiple/*genetics
Amino Acid Sequence
Base Sequence
*Carrier Proteins
Chromosomes, Human, Pair 5/genetics
Codon, Terminator/genetics
DNA Mutational Analysis
Exons/genetics
Frameshift Mutation/genetics
Genes, Recessive/genetics
Humans
Introns/genetics
Mutation/*genetics
RNA, Messenger/genetics/metabolism
Serine Proteinase Inhibitors/*genetics
Syndrome
Pubmed
Web of science
Création de la notice
28/01/2008 9:41
Dernière modification de la notice
20/08/2019 15:08