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

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Serval ID
serval:BIB_538BC373D557
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
Journal
Nature Genetics
Author(s)
Chavanas  S., Bodemer  C., Rochat  A., Hamel-Teillac  D., Ali  M., Irvine  A. D., Bonafe  J. L., Wilkinson  J., Taieb  A., Barrandon  Y., Harper  J. I., de Prost  Y., Hovnanian  A.
ISSN
1061-4036 (Print)
Publication state
Published
Issued date
06/2000
Volume
25
Number
2
Pages
141-2
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Abstract
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.
Keywords
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
OAI-PMH
oai:serval.unil.ch:BIB_538BC373D557
DOI
10.1038/75977
Pubmed
10835624
Web of science
000087459200008
Create date
28/01/2008 9:41
Last modification date
20/08/2019 15:08
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