Netherton Syndrome: A Genotype-Phenotype Review

A compound synonymous mutation c.474G>A with p.Arg578X mutation inSPINK5causes splicing disorder and mild phenotype in Netherton syndrome

(2016) Sanae Numata et al.   EXPERIMENTAL DERMATOLOGY

Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment

(2016) Necip Ozan Tiryakioğlu et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and FinnishSPINK5Founder Mutation

(2016) Katariina Hannula-Jouppi et al.   JAMA Dermatology

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome

(2015) L Guerra et al.   ACTA DERMATO-VENEREOLOGICA

A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels

(2015) Arzu Didem Yalcin   IMMUNOPHARMACOLOGY AND IMMUNOTOXICOLOGY

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations ofSPINK5c.375_376delAT

(2015) Katsuhiko Itoh et al.   JOURNAL OF DERMATOLOGY

Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

(2014) Shirli Israeli et al.   DERMATOLOGY

Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome

(2014) Tomoko Konishi et al.   JOURNAL OF DERMATOLOGY

Toward the First Class of Suicide Inhibitors of Kallikreins Involved in Skin Diseases

(2014) Xiao Tan et al.   JOURNAL OF MEDICINAL CHEMISTRY

Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level

(2013) Arisa Akagi et al.   JOURNAL OF DERMATOLOGY

Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome

(2013) Sanae Numata et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Netherton Syndrome Associated with Growth Hormone Deficiency

(2013) Banu Küçükemre Aydın et al.   PEDIATRIC DERMATOLOGY

Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

(2013) Andrea Diociaiuti et al.   PEDIATRIC DERMATOLOGY

Phase I Study Protocol for Ex Vivo Lentiviral Gene Therapy for the Inherited Skin Disease, Netherton Syndrome

(2013) Wei-Li Di et al.   Human Gene Therapy Clinical Development

Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome

(2012) I. Maatouk et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Two Infants

(2012) Joel L. Gallagher et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

(2012) Paola Fortugno et al.   JOURNAL OF HUMAN GENETICS

Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI

(2012) Zhang Xi-Bao et al.   INDIAN JOURNAL OF DERMATOLOGY

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article

(2011) Banu Bingol et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Proteolytic Activation Cascade of the Netherton Syndrome–Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis

(2011) Paola Fortugno et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations

(2011) Matthieu Lacroix et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report

(2011) Maria G. Alpigiani et al.   PEDIATRIC DERMATOLOGY

A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome

(2010) B Tüysüz et al.   ACTA DERMATO-VENEREOLOGICA

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

(2010) K. Fong et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients

(2010) Daniela Roedl et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A heterozygous null mutation combined with the G1258A polymorphism ofSPINK5causes impaired LEKTI function and abnormal expression of skin barrier proteins

(2009) W-L. Di et al.   BRITISH JOURNAL OF DERMATOLOGY

Comèl-Netherton syndrome defined as primary immunodeficiency

(2009) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Kallikrein 5 induces atopic dermatitis–like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome

(2009) Anaïs Briot et al.   JOURNAL OF EXPERIMENTAL MEDICINE

‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome

(2009) E Goujon et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation

(2008) Cathy A. Macknet et al.   PEDIATRIC DERMATOLOGY

Correlation between SPINK5 Gene Mutations and Clinical Manifestations in Netherton Syndrome Patients

(2007) Nahoko Komatsu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY