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Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway.
- Published in:
- Journal of Biomedical Science, 2021, v. 28, n. 1, p. 1, doi. 10.1186/s12929-021-00732-8
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- Publication type:
- Article
A Novel LAMA3 Mutation in a Newborn with Junctional Epidermolysis Bullosa Herlitz Type.
- Published in:
- Neonatology (16617800), 2011, v. 99, n. 3, p. 188, doi. 10.1159/000314076
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- Publication type:
- Article
Ichthyosis with confetti: clinics, molecular genetics and management.
- Published in:
- 2015
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- Publication type:
- journal article
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7707, doi. 10.3390/ijms21207707
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- Publication type:
- Article
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1426, doi. 10.3390/ijms21041426
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- Publication type:
- Article
Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5707, doi. 10.3390/ijms20225707
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- Publication type:
- Article
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.929286
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- Publication type:
- Article
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 5, p. 311, doi. 10.1038/jhg.2012.22
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- Publication type:
- Article
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
- Published in:
- Experimental Dermatology, 2016, v. 25, n. 7, p. 568, doi. 10.1111/exd.13011
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- Publication type:
- Article
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
- Published in:
- 2019
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- Publication type:
- journal article
IgE Sensitization Profile in Patients with Netherton Syndrome.
- Published in:
- International Archives of Allergy & Immunology, 2022, v. 183, n. 12, p. 1291, doi. 10.1159/000526409
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- Publication type:
- Article
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
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- Publication type:
- Article
Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 4, p. 568, doi. 10.1093/bjd/ljae225
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- Publication type:
- Article
Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy.
- Published in:
- Cancers, 2024, v. 16, n. 2, p. 471, doi. 10.3390/cancers16020471
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- Publication type:
- Article
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18
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- Publication type:
- Article
COL7A1 Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only.
- Published in:
- Dermatology (10188665), 2011, v. 222, n. 1, p. 10, doi. 10.1159/000322619
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- Publication type:
- Article
Early Immunopathological Diagnosis of Ichthyosis with Confetti in Two Sporadic Cases with New Mutations in Keratin 10.
- Published in:
- Acta Dermato-Venereologica, 2014, v. 94, n. 5, p. 579, doi. 10.2340/00015555-1796
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- Publication type:
- Article
T-lymphocytes are Directly Involved in the Clinical Expression of Migratory Circinate Erythema in Epidermolysis Bullosa Simplex Patients.
- Published in:
- Acta Dermato-Venereologica, 2014, v. 94, n. 3, p. 307, doi. 10.2340/00015555-1691
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- Publication type:
- Article
Long-term Follow-up of a Spontaneously Improving Patient with Junctional Epidermolysis Bull Associated with ITGB4 c.3977-19T>A Splicing Mutation.
- Published in:
- 2013
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- Publication type:
- Letter
Family Burden in Epidermolysis Bullosa is High Independent of Disease Type/Subtype.
- Published in:
- Acta Dermato-Venereologica, 2010, v. 90, n. 6, p. 607, doi. 10.2340/00015555-0947
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- Publication type:
- Article
A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome.
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- Acta Dermato-Venereologica, 2010, v. 90, n. 1, p. 95, doi. 10.2340/00015555-0769
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- Publication type:
- Article
A previously unrecognized Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family.
- Published in:
- European Journal of Haematology, 2019, v. 103, n. 5, p. 523, doi. 10.1111/ejh.13311
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- Publication type:
- Article
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
- Published in:
- 2022
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- Publication type:
- journal article
A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.
- Published in:
- 2021
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- Publication type:
- journal article
The Increase in Maternal Expression of axin1 and axin2 Contribute to the Zebrafish Mutant Ichabod Ventralized Phenotype.
- Published in:
- Journal of Cellular Biochemistry, 2015, v. 116, n. 3, p. 418, doi. 10.1002/jcb.24993
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- Publication type:
- Article
Recessive Bullous Dermolysis of the Newborn in Preterm Siblings with a Missense Mutation in Type VII Collagen.
- Published in:
- Pediatric Dermatology, 2015, v. 32, n. 2, p. e42, doi. 10.1111/pde.12513
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- Publication type:
- Article
Lethal Netherton Syndrome Due to Homozygous p. Arg371 X Mutation in SPINK5.
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- Pediatric Dermatology, 2013, v. 30, n. 4, p. e65, doi. 10.1111/pde.12076
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- Publication type:
- Article
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 6, p. 1, doi. 10.2340/00015555-3822
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- Publication type:
- Article
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1192, doi. 10.2340/00015555-3291
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- Publication type:
- Article
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 831, doi. 10.2340/00015555-3216
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- Publication type:
- Article
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.
- Published in:
- 2018
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- Publication type:
- Case Study
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
- Published in:
- Acta Dermato-Venereologica, 2018, v. 98, n. 4, p. 411, doi. 10.2340/00015555-2851
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- Publication type:
- Article
Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.
- Published in:
- 2017
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- Publication type:
- Case Study
Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 954, doi. 10.2340/00015555-2439
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- Publication type:
- Article
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 6, p. 784, doi. 10.2340/00015555-2364
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- Publication type:
- Article
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
- Published in:
- Acta Dermato-Venereologica, 2015, v. 95, n. 6, p. 720, doi. 10.2340/00015555-2075
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- Publication type:
- Article
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2146, doi. 10.1038/jid.2014.119
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- Publication type:
- Article
Impaired Keratinocyte Proliferative and Clonogenic Potential in Transgenic Mice Overexpressing 14-3-3σ in the Epidermis.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 9, p. 1821, doi. 10.1038/jid.2011.137
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- Publication type:
- Article
Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 Gene.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1776, doi. 10.1038/sj.jid.5700339
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- Publication type:
- Article
Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 123, n. 4, p. 639, doi. 10.1111/j.0022-202X.2004.23302.x
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- Publication type:
- Article
Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 6, p. 1456, doi. 10.1046/j.1523-1747.2002.19606.x
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- Publication type:
- Article
High-Frequency Microsatellite Instability is Associated with Defective DNA Mismatch Repair in Human Melanoma.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 1, p. 79, doi. 10.1046/j.0022-202x.2001.01611.x
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- Publication type:
- Article
Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 3, p. 731, doi. 10.1046/j.0022-202x.2001.01453.x
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- Publication type:
- Article
A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 116, n. 1, p. 182, doi. 10.1046/j.1523-1747.2001.00229.x
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- Publication type:
- Article
Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 744, doi. 10.1046/j.1523-1747.1998.00397.x
- By:
- Publication type:
- Article
RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046
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- Publication type:
- Article
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3907, doi. 10.1093/hmg/ddu102
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- Publication type:
- Article
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.
- Published in:
- Journal of Dermatology, 2015, v. 42, n. 8, p. 786, doi. 10.1111/1346-8138.12913
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- Publication type:
- Article