相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis
Paola Fortugno et al.
HUMAN MOLECULAR GENETICS (2012)
Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations
Matthieu Lacroix et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2012)
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
Kate Bennett et al.
JOURNAL OF PROTEOMICS (2012)
Association of SPINK5 gene polymorphisms with atopic dermatitis in Northeast China
L. P. Zhao et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2012)
A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report
Maria G. Alpigiani et al.
PEDIATRIC DERMATOLOGY (2012)
New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome
K. Fong et al.
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
Lionel Fontao et al.
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
Adrienne L. K. Li et al.
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
Wei-Li Di et al.
MOLECULAR THERAPY (2011)
The Safety and Efficacy of Pimecrolimus, 1%, Cream for the Treatment of Netherton Syndrome
Albert C. Yan et al.
ARCHIVES OF DERMATOLOGY (2010)
Isolation of SPINK6 in Human Skin SELECTIVE INHIBITOR OF KALLIKREIN-RELATED PEPTIDASES
Ulf Meyer-Hoffert et al.
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
Chrystelle Bonnart et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Par2 Inactivation Inhibits Early Production of TSLP, but Not Cutaneous Inflammation, in Netherton Syndrome Adult Mouse Model
Anais Briot et al.
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
Kate Bennett et al.
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
Roman Szabo et al.
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
Anais Briot et al.
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
Ulf Meyer-Hoffert et al.
PLOS ONE (2009)
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
Stephan Weidinger et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2008)
An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation
Cathy A. Macknet et al.
PEDIATRIC DERMATOLOGY (2008)
Hypothyroidism in Netherton syndrome
Ben Zion Garty et al.
PEDIATRIC DERMATOLOGY (2008)
LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control I desquamation through a pH-dependent interaction
Celine Deraison et al.
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
Carla A. Borgono et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome
Y. Mizuno et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2006)
Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome
Jean-Pierre Hachem et al.
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
Alessandro Tartaglia-Polcini et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Netherton syndrome: A case report and review of the literature
Joannie D. Sun et al.
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
E Andre et al.
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
A Jayakumar et al.
PROTEIN EXPRESSION AND PURIFICATION (2004)
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
M Raghunath et al.
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.
DERMATOLOGY (2003)
Squamous cell carcinoma in a patient with Netherton's syndrome
S Saghari et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY (2002)
LEKTI:: a multidomain serine proteinase inhibitor with pathophysiological relevance
HJ Mägert et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2002)
Netherton syndrome:: Disease expression and spectrum of SPINK5 mutations in 21 families
E Bitoun et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2002)
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis
E Bitoun et al.
PRENATAL DIAGNOSIS (2002)
Gene polymorphism in Netherton and common atopic disease
AJ Walley et al.
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
E Sprecher et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2001)
Human papillomavirus infection in Netherton's syndrome
F Weber et al.
BRITISH JOURNAL OF DERMATOLOGY (2001)
Clinico-immunological heterogeneity in Comel-Netherton syndrome
D Van Gysel et al.
DERMATOLOGY (2001)
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
S Chavanas et al.
NATURE GENETICS (2000)