Detalhe da pesquisa
1.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32554502
2.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genet Med
; 23(9): 1636-1647, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34145395
3.
Ex vivo gene modification therapy for genetic skin diseases-recent advances in gene modification technologies and delivery.
Exp Dermatol
; 30(7): 887-896, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33657662
4.
Persistent kallikrein 5 activation induces atopic dermatitis-like skin architecture independent of PAR2 activity.
J Allergy Clin Immunol
; 140(5): 1310-1322.e5, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28238749
5.
A mechanistic target of rapamycin complex 1/2 (mTORC1)/V-Akt murine thymoma viral oncogene homolog 1 (AKT1)/cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in patients with atopic dermatitis.
J Allergy Clin Immunol
; 139(4): 1228-1241, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27913303
6.
Expanding the scope of N â S acyl transfer in native peptide sequences.
Org Biomol Chem
; 13(27): 7469-76, 2015 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-26066020
7.
Inflammatory skin and bowel disease linked to ADAM17 deletion.
N Engl J Med
; 365(16): 1502-8, 2011 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-22010916
8.
Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.
Cell Tissue Res
; 351(2): 281-8, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22864982
9.
Short-Term Treatment with Rho-Associated Kinase Inhibitor Preserves Keratinocyte Stem Cell Characteristics In Vitro.
Cells
; 12(3)2023 01 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36766688
10.
Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model.
JID Innov
; 3(3): 100191, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37213713
11.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Front Immunol
; 14: 1287258, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38115997
12.
Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.
Mol Ther
; 19(2): 408-16, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20877344
13.
New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI.
J Proteome Res
; 9(8): 4289-94, 2010 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-20533828
14.
Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.
J Invest Dermatol
; 140(1): 121-131.e6, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31326396
15.
Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome.
Mol Ther Methods Clin Dev
; 18: 280-290, 2020 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32637457
16.
Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
J Invest Dermatol
; 140(5): 1035-1044.e7, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31705875
17.
Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Hum Gene Ther
; 30(9): 1067-1078, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31288584
18.
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
JCI Insight
; 4(11)2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31167965
19.
Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.
J Invest Dermatol
; 137(10): 2120-2130, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28634034
20.
Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold - A Potential Therapeutic Intervention for Skin Diseases.
PLoS One
; 11(11): e0166268, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27824929