Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
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Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessingEvolutionary families of peptidase inhibitorsEpidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- miceMatriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndromeThe SPINK gene family and celiac disease susceptibilitySpink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivityMatriptase deletion initiates a Sjögren's syndrome-like disease in mice.Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.Inhibition of transcription factor specificity protein 1 alters the gene expression profile of keratinocytes leading to upregulation of kallikrein-related peptidases and thymic stromal lymphopoietin.Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyosesHuman involucrin promoter mediates repression-resistant and compartment-specific LEKTI expressionThe immunogenetics of asthma and eczema: a new focus on the epithelium.Stratum corneum defensive functions: an integrated view.KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype.Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centreNetherton syndrome: a case report and review of the literature.Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings.The Arid Melancholy-Netherton Syndrome With Protein Energy MalnutritionIchthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disordersBiochemical and structural insights into mesotrypsin: an unusual human trypsin.The matriptase-prostasin proteolytic cascade in epithelial development and pathology.A practical approach to ichthyoses with systemic manifestations.Netherton Syndrome: A Genotype-Phenotype Review.Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton SyndromeAsymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTISensing and responding to allergic response cytokines through a genetically encoded circuit.Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.Expression and regulation of murine SPINK12, a potential orthologue of human LEKTI2.Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.Topical pimecrolimus: a novel therapeutic option for Netherton syndrome.Inhibition of human kallikreins 5 and 7 by the serine protease inhibitor lympho-epithelial Kazal-type inhibitor (LEKTI).Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.Netherton Syndrome: A Case Report and Review of Literature
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P2860
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
description
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Februar 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: February 2002)
@en
vedecký článok (publikovaný 2002-02)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd in 2002-02)
@nl
наукова стаття, опублікована в лютому 2002
@uk
مقالة علمية (نشرت في فبراير 2002)
@ar
name
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
@ast
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
type
label
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
@ast
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
prefLabel
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
@ast
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
P2093
P50
P1476
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
@en
P2093
Alain Taïeb
Christine Bodemer
Dominique Hamel-Teillac
Emmanuelle Bitoun
Giovanna Zambruno
John I Harper
Lorne Lonie
Mauro Paradisi
Yoshihiko Mitsuhashi
Yves de Prost
P304
P356
10.1046/J.1523-1747.2002.01603.X
P407
P577
2002-02-01T00:00:00Z
P5875
P6179
1021692304