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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
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- Article
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.
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- International Journal of Dermatology, 2014, v. 53, n. 12, p. 1478, doi. 10.1111/ijd.12569
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- Publication type:
- Article
Deciphering the microbiology of hidradenitis suppurativa: a step forward towards understanding an enigmatic inflammatory skin disease.
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- Experimental Dermatology, 2015, v. 24, n. 10, p. 736, doi. 10.1111/exd.12830
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- Publication type:
- Article
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.
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- Experimental Dermatology, 2014, v. 23, n. 1, p. 60, doi. 10.1111/exd.12292
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- Article
Poikiloderma of Theresa Kindler: Report of a Case with Ultrastructural Study, and Review of the Literature.
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- Pediatric Dermatology, 1989, v. 6, n. 2, p. 82, doi. 10.1111/j.1525-1470.1989.tb01003.x
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- Article
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
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- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4187, doi. 10.1093/hmg/dds243
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- Publication type:
- Article
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
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- Human Molecular Genetics, 2006, v. 15, n. 21, p. 3083, doi. 10.1093/hmg/ddl249
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- Article
The Microbiological Landscape of Anaerobic Infections in Hidradenitis Suppurativa: A Prospective Metagenomic Study.
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- Clinical Infectious Diseases, 2017, v. 65, n. 2, p. 282, doi. 10.1093/cid/cix285
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- Publication type:
- Article
Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology.
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- Prenatal Diagnosis, 2012, v. 32, n. 5, p. 498, doi. 10.1002/pd.3839
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- Article
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
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- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471
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- Publication type:
- Article
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417
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- 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.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 293, doi. 10.1038/sj.ejhg.5200292
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- Article
Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis.
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- 2006
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- Publication type:
- Letter
Corneodesmosomal Cadherins Are Preferential Targets of Stratum Corneum Trypsin- and Chymotrypsin-like Hyperactivity in Netherton Syndrome.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 7, p. 1622, doi. 10.1038/sj.jid.5700284
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- Publication type:
- Article
Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 773, doi. 10.1038/sj.jid.5700154
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- Publication type:
- Article
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, v. 126, n. 2, p. 315, doi. 10.1038/sj.jid.5700015
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- Publication type:
- Article
LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum.
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- Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 360, doi. 10.1111/j.0022-202X.2004.23583.x
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- Publication type:
- Article
Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1and Effect of Missense Mutation A528P on ProteinExpression Levels.
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- Journal of Investigative Dermatology, 2004, v. 123, n. 1, p. 67, doi. 10.1111/j.0022-202X.2004.22713.x
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- Article
Novel ABCC6 Mutations in Pseudoxanthoma Elasticum.
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- Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 608, doi. 10.1111/j.0022-202X.2004.22312.x
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- Publication type:
- Article
ORIGINAL ARTICLE Impaired Trafficking of the Desmoplakins in Cultured Darier's Disease Keratinocytes.
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- Journal of Investigative Dermatology, 2003, v. 121, n. 6, p. 1349, doi. 10.1046/j.1523-1747.2003.12557.x
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- Publication type:
- Article
Mutations in the Sarcoplasmic/Endoplasmic Reticulum Ca<sup>2+</sup> ATPase Isoform Cause Darier's Disease.
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- Journal of Investigative Dermatology, 2003, v. 121, n. 3, p. 486, doi. 10.1046/j.1523-1747.2003.12410.x
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- Publication type:
- Article
Acrokeratosis Verruciformis of Hopf is Caused by Mutation in ATP2A2: Evidence That it is Allelic to Darier's Disease.
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- Journal of Investigative Dermatology, 2003, v. 120, n. 2, p. 229, doi. 10.1046/j.1523-1747.2003.t01-1-12045.x
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- Article
Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 352, doi. 10.1046/j.1523-1747.2002.01603.x
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- Publication type:
- Article
Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 338, doi. 10.1046/j.0022-202x.2001.01675.x
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- Publication type:
- Article
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, v. 117, n. 2, p. 179, doi. 10.1046/j.1523-1747.2001.01389.x
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- Article
Mosaicism for ATP2A2 Mutations Causes Segmental Darier's Disease.
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- Journal of Investigative Dermatology, 2000, v. 115, n. 6, p. 1144, doi. 10.1046/j.1523-1747.2000.00182.x
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- Article
Role of Sp1 Response Element in Transcription of the Human Transglutaminase 1 Gene.
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- Journal of Investigative Dermatology, 2000, v. 115, n. 1, p. 113, doi. 10.1046/j.1523-1747.2000.00027.x
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- Article
Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11‐q12.1 with Evidence for Multiple Independent Mutations.
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- Journal of Investigative Dermatology, 1998, v. 111, n. 1, p. 83, doi. 10.1046/j.1523-1747.1998.00245.x
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- Publication type:
- Article
DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence.
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- Journal of Investigative Dermatology, 1995, v. 104, n. 4, p. 456, doi. 10.1111/1523-1747.ep12605893
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- Publication type:
- Article
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
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- Nature Genetics, 2005, v. 37, n. 1, p. 56, doi. 10.1038/ng1493
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- Article
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.
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- PLoS Genetics, 2015, v. 11, n. 9, p. 1, doi. 10.1371/journal.pgen.1005389
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- Article
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition.
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- Cell & Tissue Research, 2013, v. 351, n. 2, p. 289, doi. 10.1007/s00441-013-1558-1
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- Article
SIN Retroviral Vectors Expressing COL7A1 Under Human Promoters for Ex Vivo Gene Therapy of Recessive Dystrophic Epidermolysis Bullosa.
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- Molecular Therapy, 2010, v. 18, n. 8, p. 1509, doi. 10.1038/mt.2010.91
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- Publication type:
- Article
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
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- 2016
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- Publication type:
- journal article
Genetics of atopic dermatitis: beyond filaggrin-the role of thymic stromal lymphopoietin in disease persistence.
- Published in:
- 2014
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- Publication type:
- commentary
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
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- Publication type:
- Article
Genetics of Atopic Dermatitis.
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- JAMA Dermatology, 2014, v. 150, n. 3, p. 248, doi. 10.1001/jamadermatol.2013.7994
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- Publication type:
- Article
Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis.
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- Pediatric Dermatology, 2019, v. 36, n. 1, p. 132, doi. 10.1111/pde.13722
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- Publication type:
- Article
Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome.
- Published in:
- 2020
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- Publication type:
- Letter
Gene polymorphism in Netherton and common atopic disease.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 175, doi. 10.1038/ng728
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- Publication type:
- Article
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
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- Nature Genetics, 2000, v. 25, n. 2, p. 141, doi. 10.1038/75977
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- Publication type:
- Article
Mutations in ATP2A2, encoding a Ca<sup>2+</sup> pump, cause Darier disease.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 271, doi. 10.1038/6784
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- Publication type:
- Article
Evaluation of a crystallographic surrogate for kallikrein 5 in the discovery of novel inhibitors for Netherton syndrome.
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- Acta Crystallographica: Section F, Structural Biology Communications, 2019, v. 75, n. 5, p. 385, doi. 10.1107/S2053230X19003169
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- Publication type:
- Article
Olmsted syndrome: clinical, molecular and therapeutic aspects.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0246-5
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- Publication type:
- Article
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
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- 2011
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- 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
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- Publication type:
- journal article
Harlequin ichthyosis unmasked: a defect of lipid transport.
- Published in:
- 2005
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- Publication type:
- journal article
Mechanistic insight from murine models of Netherton syndrome.
- Published in:
- Biological Chemistry, 2016, v. 397, n. 12, p. 1223, doi. 10.1515/hsz-2016-0203
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- Publication type:
- Article
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy.
- Published in:
- Biological Chemistry, 2014, v. 395, n. 9, p. 945, doi. 10.1515/hsz-2014-0137
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- Publication type:
- Article
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
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- Publication type:
- Article