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1.
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Hum Mol Genet
; 31(8): 1308-1324, 2022 04 22.
Article
in English
| MEDLINE | ID: mdl-34740256
2.
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology
; 240(3): 397-413, 2024.
Article
in English
| MEDLINE | ID: mdl-38588653
3.
SARS-CoV-2 infection of thymus induces loss of function that correlates with disease severity.
J Allergy Clin Immunol
; 151(4): 911-921, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36758836
4.
IgE Sensitization Profile in Patients with Netherton Syndrome.
Int Arch Allergy Immunol
; 183(12): 1291-1296, 2022.
Article
in English
| MEDLINE | ID: mdl-36108599
5.
Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway.
J Biomed Sci
; 28(1): 36, 2021 May 09.
Article
in English
| MEDLINE | ID: mdl-33966637
6.
Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.
Pediatr Dermatol
; 37(2): 393-395, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31957133
7.
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Int J Mol Sci
; 21(20)2020 Oct 18.
Article
in English
| MEDLINE | ID: mdl-33081034
8.
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
Int J Mol Sci
; 21(4)2020 Feb 20.
Article
in English
| MEDLINE | ID: mdl-32093196
9.
Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
Int J Mol Sci
; 20(22)2019 Nov 14.
Article
in English
| MEDLINE | ID: mdl-31739489
10.
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
Acta Derm Venereol
; 98(4): 411-415, 2018 Apr 16.
Article
in English
| MEDLINE | ID: mdl-29182795
11.
A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease.
Acta Derm Venereol
; 99(1): 115-116, 2019 Jan 01.
Article
in English
| MEDLINE | ID: mdl-30085326
12.
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.
Acta Derm Venereol
; 99(2): 238-239, 2019 02 01.
Article
in English
| MEDLINE | ID: mdl-30226531
13.
Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa.
J Invest Dermatol
; 144(7): 1522-1533.e10, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38237731
14.
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.
Front Immunol
; 13: 929286, 2022.
Article
in English
| MEDLINE | ID: mdl-35967298
15.
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Biomedicines
; 10(6)2022 Jun 20.
Article
in English
| MEDLINE | ID: mdl-35740480
16.
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.
Orphanet J Rare Dis
; 17(1): 275, 2022 07 19.
Article
in English
| MEDLINE | ID: mdl-35854363
17.
Combination Treatment with Hydroxytyrosol and Vitamin E Improves NAFLD-Related Fibrosis.
Nutrients
; 14(18)2022 Sep 14.
Article
in English
| MEDLINE | ID: mdl-36145170
18.
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
Genes (Basel)
; 12(3)2021 02 26.
Article
in English
| MEDLINE | ID: mdl-33652762
19.
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
Genes (Basel)
; 12(5)2021 05 11.
Article
in English
| MEDLINE | ID: mdl-34064633
20.
Non-coding landscapes of colorectal cancer.
World J Gastroenterol
; 21(41): 11709-39, 2015 Nov 07.
Article
in English
| MEDLINE | ID: mdl-26556998