Detalhe da pesquisa
1.
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
Hum Mol Genet
; 26(10): 1787-1800, 2017 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28369476
2.
Activography reveals aberrant proteolysis in desquamating diseases of differing backgrounds.
Exp Dermatol
; 28(1): 86-89, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30390391
3.
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies.
J Clin Immunol
; 42(8): 1810, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35870030
4.
Counterregulation between thymic stromal lymphopoietin- and IL-23-driven immune axes shapes skin inflammation in mice with epidermal barrier defects.
J Allergy Clin Immunol
; 138(1): 150-161.e13, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26993035
5.
Mice deficient for the epidermal dermokine ß and γ isoforms display transient cornification defects.
J Cell Sci
; 127(Pt 13): 2862-72, 2014 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24794495
6.
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Acta Derm Venereol
; 96(4): 473-8, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26581228
7.
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.
Acta Derm Venereol
; 100(4)2020 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31633189
8.
Analysis of protein-protein interaction between late cornified envelope proteins and corneodesmosin.
Exp Dermatol
; 23(10): 769-71, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25078048
9.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
Nat Genet
; 34(2): 151-3, 2003 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12754508
10.
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
Acta Derm Venereol
; 97(3): 387-388, 2017 03 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27722766
11.
Epidermal 1-O-acylceramides appear with the establishment of the water permeability barrier in mice and are produced by maturating keratinocytes.
Lipids
; 57(3): 183-195, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35318678
12.
A large-scale multi-technique approach identifies forty-nine new players of keratinocyte terminal differentiation in human epidermis.
Exp Dermatol
; 20(2): 113-8, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21255089
13.
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
Eur J Dermatol
; 21 Suppl 2: 35-42, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21628128
14.
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Front Genet
; 12: 719624, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34956305
15.
Increased expression of caspase-1 and interleukin-18 in peeling skin disease, and a novel mutation of corneodesmosin.
Acta Derm Venereol
; 95(8): 1019-21, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26014679
16.
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.
Acta Derm Venereol
; 94(5): 591-2, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24531573
17.
Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.
Int J Dermatol
; 2024 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38581117
18.
The Cornified Envelope: A Versatile Contributor to the Epidermal Barrier.
J Invest Dermatol
; 143(8): 1335-1337, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37149811
19.
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
J Dermatol Sci
; 112(3): 166-169, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37923657
20.
A 4.2 kb upstream region of the human corneodesmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice.
J Invest Dermatol
; 122(3): 730-8, 2004 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15086560