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Human Gene Therapy. Clinical Development|October 22, 2013
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton SyndromeWei-Li Di, Jemima E Mellerio, Catina Bernadis, et al.
JID Innovations : Skin Science From Molecules to Population Health|May 22, 2023
Cytosine Deaminase Base Editing to Restore <i>COL7A1</i> in Dystrophic Epidermolysis Bullosa Human: Murine Skin ModelGaetano Naso, Soragia Athina Gkazi, Christos Georgiadis, et al.
Human Gene Therapy. Clinical Development|December 17, 2013
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndromeWei-Li Di, Jemima E Mellerio, Catina Bernadis, et al.
Stem Cells and Development|July 28, 2016
Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in TrichohyalinAnastasia Petrova, Antonio Capalbo, Laureen Jacquet, et al.
The Journal of Investigative Dermatology|January 15, 2016
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEBChristos Georgiadis, Farhatullah Syed, Anastasia Petrova, et al.
The Journal of Allergy and Clinical Immunology|December 4, 2016
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 dermatitisAishath S Naeem, Cristina Tommasi, Christian Cole, et al.
The New England Journal of Medicine|October 21, 2011
Inflammatory skin and bowel disease linked to ADAM17 deletionDiana C Blaydon, Paolo Biancheri, Wei-Li Di, et al.
Frontiers in Immunology|December 20, 2023
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibitionAlice Burleigh, Elena Moraitis, Eman Al Masroori, et al.
Human Gene Therapy|July 11, 2019
Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 TrialWei-Li Di, Su M Lwin, Anastasia Petrova, et al.
The Journal of Investigative Dermatology|April 24, 2025
Cholesterol pathway gene variants and reduced keratinocyte cholesterol support a final common druggable pathway in hyperproliferative inflammatory skin diseasesMelissa Riachi, Dale Bryant, James Ellis, et al.
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