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About:
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
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scientific article (publication date: February 2002)
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rdf:type
Item
description
artículu científicu espublizáu en 2002
(ast)
vědecký článek publikovaný v roce 2002
(cs)
наукова стаття, опублікована в лютому 2002
(uk)
2002 թվականի փետրվարին հրատարակված գիտական հոդված
(hy)
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
(hyw)
مقالة علمية (نشرت في فبراير 2002)
(ar)
vedecký článok (publikovaný 2002-02)
(sk)
wetenschappelijk artikel (gepubliceerd in 2002-02)
(nl)
article scientifique publié en 2002
(fr)
scientific article (publication date: February 2002)
(en)
im Februar 2002 veröffentlichter wissenschaftlicher Artikel
(de)
publication date
wds:Q28200896-4CBC7360-1D76-49DE-AE66-26521F31EA3C
publication date
2002-02-01 00:00:00Z
(
xsd:dateTime
)
language of work or name
wds:Q28200896-3A4CC528-A50F-461E-AAA0-F5C98D0129DD
language of work or name
English
exact match
wds:Q28200896-79C21685-99E0-48C3-997A-E1C9AA804A8D
exact match
https://scigraph.springernature.com/pub.10.1046/j.1523-1747.2002.01603.x
author name string
wds:Q28200896-1EB1BA02-CB61-4ACF-853F-047E9047731C
wds:Q28200896-7056175B-8F75-4A96-B1E2-42D7256A10F2
wds:Q28200896-B7EC51D3-F332-4B95-BED8-0FA5BFAD7B96
wds:Q28200896-CF1BFECA-84FD-49CD-9C78-F73319412E76
wds:Q28200896-D6D38E94-19DE-4B51-A65C-4AD4E6E9D707
wds:Q28200896-DAF6370A-7C24-4FAA-B3B9-2F7FBBC6D1F9
wds:Q28200896-EF44C877-52FE-4725-9F6A-72CC0D91004E
wds:Q28200896-F8A65D47-7891-4968-9784-2B8ED2922ACF
wds:Q28200896-FE900E35-4FCF-44DF-A106-4848188F9194
author name string
Alain Taïeb
Emmanuelle Bitoun
Giovanna Zambruno
Mauro Paradisi
Dominique Hamel-Teillac
Yves de Prost
Yoshihiko Mitsuhashi
John I Harper
Lorne Lonie
rdfs:label
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(en)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(nl)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(ast)
skos:prefLabel
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(en)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(nl)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(ast)
name
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(en)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(nl)
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(ast)
author
wds:Q28200896-216221CB-3057-4350-9E21-12D294C7F9C8
wds:Q28200896-3C66C3D4-FDAC-437D-BB89-FB0698EAC332
wds:Q28200896-CBD4D60C-B159-44AD-A753-C59C241C4490
wds:Q28200896-E6684B2F-9D52-4F89-B461-87431F8F648B
wds:Q28200896-F2C4849A-88E9-449D-850D-91DBBA5C22D1
author
Alain Hovnanian
Christine Bodemer
Alan D. Irvine
Shin-ichi Ansai
Stephane Chavanas
title
wds:Q28200896-0AF83421-7CD4-4B30-9696-01D7CD19F059
title
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
(en)
page(s)
wds:Q28200896-C0141F2C-7BCA-48F3-B7EC-BEEB397EE3A9
page(s)
352-361
instance of
wds:Q28200896-34CE6A0C-9053-4C33-910B-76516427D99E
instance of
scholarly article
main subject
wds:Q28200896-52829A9F-8F2F-49CA-8B3A-3B5AC5F04F0E
main subject
Netherton syndrome
PubMed ID
wds:Q28200896-DB31E44D-2C96-4C13-84F1-5BC2ECF5C03A
PubMed ID
http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11841556
PubMed ID
11841556
published in
wds:Q28200896-24CFFE08-AEF3-4242-9EA1-77CAA7AF5080
published in
Journal of Investigative Dermatology
issue
wds:Q28200896-D5E4E10A-7E03-4755-8363-1A1BDD517130
volume
wds:Q28200896-03784C17-B1C5-4FE8-B9FD-7AA9E41788E6
issue
2
volume
118
DOI
wds:Q28200896-64B0CA3B-1E88-4011-ABDC-ED24EEA2F6B1
DOI
http://dx.doi.org/10.1046/J.1523-1747.2002.01603.X
DOI
10.1046/J.1523-1747.2002.01603.X
ResearchGate publication ID
wds:Q28200896-DB7DBBE4-97BE-4377-904A-4EAB7824113E
ResearchGate publication ID
11518670
Dimensions Publication ID
wds:Q28200896-49D05165-1A7A-47DF-8219-F802DA3AA267
Dimensions Publication ID
1021692304
is
owl:sameAs
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Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
is
about
of
https://www.wikidata.org/wiki/Special:EntityData/Q28200896
is
cites work
of
Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome
Netherton syndrome: a case report and review of the literature
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome
Stratum corneum defensive functions: an integrated view
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum
Intercellular skin barrier lipid composition and organization in Netherton syndrome patients.
Biochemical and structural insights into mesotrypsin: an unusual human trypsin.
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article
The matriptase-prostasin proteolytic cascade in epithelial development and pathology
Evolutionary families of peptidase inhibitors
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
Matriptase deletion initiates a Sjögren's syndrome-like disease in mice
Homologous proteins with different folds: the three-dimensional structures of domains 1 and 6 of the multiple Kazal-type inhibitor LEKTI
The immunogenetics of asthma and eczema: a new focus on the epithelium
Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders
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