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Secukinumab Therapy for Netherton Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genetics of atopic dermatitis: beyond filaggrin-the role of thymic stromal lymphopoietin in disease persistence.
- Published in:
- 2014
- By:
- Publication type:
- commentary
Genetics of Atopic Dermatitis.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 3, p. 248, doi. 10.1001/jamadermatol.2013.7994
- By:
- Publication type:
- Article
A New TRPV3 Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 3, p. 303, doi. 10.1001/jamadermatol.2013.8709
- By:
- Publication type:
- Article
Olmsted syndrome: clinical, molecular and therapeutic aspects.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0246-5
- By:
- Publication type:
- Article
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Harlequin ichthyosis unmasked: a defect of lipid transport.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Evaluation of a crystallographic surrogate for kallikrein 5 in the discovery of novel inhibitors for Netherton syndrome.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2019, v. 75, n. 5, p. 385, doi. 10.1107/S2053230X19003169
- By:
- Publication type:
- Article
Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea.
- Published in:
- Nature Medicine, 2007, v. 13, n. 8, p. 975, doi. 10.1038/nm1616
- By:
- Publication type:
- Article
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
- Published in:
- Nature Genetics, 2005, v. 37, n. 1, p. 56, doi. 10.1038/ng1493
- By:
- Publication type:
- Article
Gene polymorphism in Netherton and common atopic disease.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 175, doi. 10.1038/ng728
- By:
- Publication type:
- Article
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 141, doi. 10.1038/75977
- By:
- Publication type:
- Article
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2023, v. 62, n. 4, p. 210, doi. 10.1002/gcc.23112
- By:
- Publication type:
- Article
Deciphering the microbiology of hidradenitis suppurativa: a step forward towards understanding an enigmatic inflammatory skin disease.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 10, p. 736, doi. 10.1111/exd.12830
- By:
- Publication type:
- Article
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.
- Published in:
- Experimental Dermatology, 2014, v. 23, n. 1, p. 60, doi. 10.1111/exd.12292
- By:
- Publication type:
- Article
Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
- Published in:
- Archives of Dermatological Research, 2014, v. 306, n. 4, p. 405, doi. 10.1007/s00403-013-1421-y
- By:
- Publication type:
- Article
A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 2, p. 300, doi. 10.1093/bjd/ljae143
- By:
- Publication type:
- Article
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 12, p. 1478, doi. 10.1111/ijd.12569
- By:
- Publication type:
- Article
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Cancers, 2024, v. 16, n. 13, p. 2476, doi. 10.3390/cancers16132476
- By:
- Publication type:
- Article
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417
- By:
- Publication type:
- Article
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471
- By:
- Publication type:
- Article
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 293, doi. 10.1038/sj.ejhg.5200292
- By:
- Publication type:
- Article
Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 1, p. 132, doi. 10.1111/pde.13722
- By:
- Publication type:
- Article
Poikiloderma of Theresa Kindler: Report of a Case with Ultrastructural Study, and Review of the Literature.
- Published in:
- Pediatric Dermatology, 1989, v. 6, n. 2, p. 82, doi. 10.1111/j.1525-1470.1989.tb01003.x
- By:
- Publication type:
- Article
Diagnosis of Epidermolysis Bullosa Acquisita: Multicentre Comparison of Different Assays for Serum Anti-type VII Collagen Reactivity.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 3, p. 1, doi. 10.2340/00015555-3774
- By:
- Publication type:
- Article
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
- Published in:
- 2024
- By:
- Publication type:
- Letter
Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Letter
The Microbiological Landscape of Anaerobic Infections in Hidradenitis Suppurativa: A Prospective Metagenomic Study.
- Published in:
- Clinical Infectious Diseases, 2017, v. 65, n. 2, p. 282, doi. 10.1093/cid/cix285
- By:
- Publication type:
- Article
Erythrokeratodermia Variabilis et Progressiva Allelic to Oculo-Dento-Digital Dysplasia.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 6, p. 1475, doi. 10.1038/jid.2014.535
- By:
- Publication type:
- Article
SERCA2 Dysfunction in Darier Disease Causes Endoplasmic Reticulum Stress and Impaired Cell-to-Cell Adhesion Strength: Rescue by Miglustat.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 7, p. 1961, doi. 10.1038/jid.2014.8
- By:
- Publication type:
- Article
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 5, p. 1238, doi. 10.1038/jid.2013.517
- By:
- Publication type:
- Article
Systemic Protein Therapy for Recessive Dystrophic Epidermolysis Bullosa: How Far Are We from Clinical Translation?
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1719, doi. 10.1038/jid.2013.137
- By:
- Publication type:
- Article
siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 6, p. 1741, doi. 10.1038/jid.2012.11
- By:
- Publication type:
- Article
Nicastrin Mutations in French Families with Hidradenitis Suppurativa.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 6, p. 1728, doi. 10.1038/jid.2012.23
- By:
- Publication type:
- Article
Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 1, p. 575, doi. 10.1038/jid.2011.366
- By:
- Publication type:
- Article
When Activity Requires Breaking Up: LEKTI Proteolytic Activation Cascade for Specific Proteinase Inhibition.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2169, doi. 10.1038/jid.2011.295
- By:
- Publication type:
- Article
A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli- Franceschetti- Jadassohn Syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Induced Pluripotent Stem Cells from Individuals with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 4, p. 848, doi. 10.1038/jid.2010.346
- By:
- Publication type:
- Article
Par2 Inactivation Inhibits Early Production of TSLP, but Not Cutaneous Inflammation, in Netherton Syndrome Adult Mouse Model.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 12, p. 2736, doi. 10.1038/jid.2010.233
- By:
- Publication type:
- Article
Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism.
- Published in:
- 2009
- By:
- Publication type:
- Letter
DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 568, doi. 10.1038/sj.jid.5700617
- By:
- Publication type:
- Article
Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Corneodesmosomal Cadherins Are Preferential Targets of Stratum Corneum Trypsin- and Chymotrypsin-like Hyperactivity in Netherton Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 7, p. 1622, doi. 10.1038/sj.jid.5700284
- By:
- Publication type:
- Article
Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 773, doi. 10.1038/sj.jid.5700154
- By:
- Publication type:
- Article
SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 2, p. 315, doi. 10.1038/sj.jid.5700015
- By:
- Publication type:
- Article