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HUMAN MOLECULAR GENETICS (2012)
Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations
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The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome
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JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2012)
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New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome
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CLINICAL AND EXPERIMENTAL DERMATOLOGY (2011)
rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients
Daniela Roedl et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2011)
Proteolytic Activation Cascade of the Netherton Syndrome-Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis
Paola Fortugno et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
When Activity Requires Breaking Up: LEKTI Proteolytic Activation Cascade for Specific Proteinase Inhibition
Laetitia Furio et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
Surgical management of a giant condyloma of Buschke-Lowenstein in a patient with Netherton syndrome using the pedicled anterolateral thigh flap - a case report
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JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY (2011)
Ex-vivo Gene Therapy Restores LEKTI Activity and Corrects the Architecture of Netherton Syndrome-derived Skin Grafts
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MOLECULAR THERAPY (2011)
The Safety and Efficacy of Pimecrolimus, 1%, Cream for the Treatment of Netherton Syndrome
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ARCHIVES OF DERMATOLOGY (2010)
Isolation of SPINK6 in Human Skin SELECTIVE INHIBITOR OF KALLIKREIN-RELATED PEPTIDASES
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JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
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JOURNAL OF CLINICAL INVESTIGATION (2010)
Par2 Inactivation Inhibits Early Production of TSLP, but Not Cutaneous Inflammation, in Netherton Syndrome Adult Mouse Model
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
New Role for LEKTI in Skin Barrier Formation: Label-Free Quantitative Proteomic Identification of Caspase 14 as a Novel Target for the Protease Inhibitor LEKTI
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JOURNAL OF PROTEOME RESEARCH (2010)
'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome
E. Goujon et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2010)
Elastase 2, a key player in the integrity of the epidermal barrier and in Netherton syndrome
Chrystelle Bonnart et al.
M S-MEDECINE SCIENCES (2010)
Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality
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AMERICAN JOURNAL OF PATHOLOGY (2009)
Abnormal skin barrier in the etiopathogenesis of atopic dermatitis
Peter M. Elias et al.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Comel-Netherton syndrome defined as primary immunodeficiency
Ellen D. Renner et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
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JOURNAL OF EXPERIMENTAL MEDICINE (2009)
Identification of Lympho-Epithelial Kazal-Type Inhibitor 2 in Human Skin as a Kallikrein-Related Peptidase 5-Specific Protease Inhibitor
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Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk
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JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2008)
An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation
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PEDIATRIC DERMATOLOGY (2008)
Hypothyroidism in Netherton syndrome
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PEDIATRIC DERMATOLOGY (2008)
LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control I desquamation through a pH-dependent interaction
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MOLECULAR BIOLOGY OF THE CELL (2007)
Netherton syndrome: mutation analysis of two Taiwanese families
Shuan-Pei Lin et al.
ARCHIVES OF DERMATOLOGICAL RESEARCH (2007)
A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation
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JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome
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CLINICAL AND EXPERIMENTAL DERMATOLOGY (2006)
Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
Pascal Descargues et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI Isoforms derived from alternative pre-mRNA processing
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Netherton syndrome: A case report and review of the literature
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INTERNATIONAL JOURNAL OF DERMATOLOGY (2006)
hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6
T Egelrud et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
Acute pancreatitis in a young girl with the Netherton syndrome -: art. no. E69
K Söreide et al.
JOURNAL OF PEDIATRIC SURGERY (2005)
Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene:: immunohistochemical studies of LEKTI and other epidermal molecules
Y Shimomura et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
Inhibition of human kallikreins 5 and 7 by the serine protease inhibitor lympho-epithelial Kazal-type inhibitor (LEKTI)
NM Schechter et al.
BIOLOGICAL CHEMISTRY (2005)
Topical pimecrolimus: a novel therapeutic option for Netherton syndrome
V Oji et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene
Y Mizuno et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis
T Kusunoki et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2005)
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome
DR Hewett et al.
HUMAN MOLECULAR GENETICS (2005)
Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases
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ARCHIVES DE PEDIATRIE (2005)
Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5
SC Chao et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
Expression of LEKTI domains 6-9′ in the baculovirus expression system:: recombinant LEKTI domains 6-9′ inhibit trypsin and subtilisin A
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Recombinant production, purification and biochemical characterization of domain 6 of LEKTI:: a temporary Kazal-type-related serine proteinase inhibitor
P Kreutzmann et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2004)
Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample
M Kabesch et al.
CLINICAL AND EXPERIMENTAL ALLERGY (2004)
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma:: molecular testing as a helpful diagnostic tool for Netherton syndrome
E Sprecher et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2004)
SPINK5 and Netherton syndrome:: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome
C Ong et al.
BRITISH JOURNAL OF DERMATOLOGY (2004)
Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice
T Yang et al.
GENES & DEVELOPMENT (2004)
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
E Bitoun et al.
HUMAN MOLECULAR GENETICS (2003)
Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese
Y Nishio et al.
GENES AND IMMUNITY (2003)
Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: A kinetic analysis
K Mitsudo et al.
BIOCHEMISTRY (2003)
Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population
A Kato et al.
BRITISH JOURNAL OF DERMATOLOGY (2003)
Early development of multiple epithelial neoplasms in Netherton syndrome
K Krasagakis et al.
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Squamous cell carcinoma in a patient with Netherton's syndrome
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INTERNATIONAL JOURNAL OF DERMATOLOGY (2002)
LEKTI:: a multidomain serine proteinase inhibitor with pathophysiological relevance
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INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2002)
Netherton syndrome:: Disease expression and spectrum of SPINK5 mutations in 21 families
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Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis
E Bitoun et al.
PRENATAL DIAGNOSIS (2002)
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NATURE GENETICS (2001)
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2001)
Human papillomavirus infection in Netherton's syndrome
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