APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

Raymond J. Cho, Ludmil B. Alexandrov, Nicoline Y. den Breems, +40

Science Translational Medicine

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Christos Tziotzios, Christos Petridis, Nick Dand, +70

Nature Communications

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

Ellie Rashidghamat, Tendai Kadiyirire, Salma Ayis, +27

Journal of the American Academy of Dermatology

Melanin distribution in human epidermis affords localized protection against DNA photodamage and concurs with skin cancer incidence difference in extreme phototypes

Damilola Fajuyigbe, Su M. Lwin, Brian Diffey, +4

The FASEB Journal

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

Su M. Lwin, Farhatullah Syed, Wei‐Li Di, +38

JCI Insight

Early Efficacy OutcomesImmunologyPathologyDermatologySkin Regeneration +17

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, +18

Matrix Biology

Mendelian DisorderGenetic DisorderLysyl Hydroxylase 3PathologyDermatology +3

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB

Christos Georgiadis, Farhatullah Syed, Anastasia Petrova, +13

Journal of Investigative Dermatology

Tissue EngineeringEngineeringImmunologyMolecular BiologyBiofabrication +20

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in <i>CARD14</i>

Su M. Lwin, Chao‐Kai Hsu, L. Liu, +3

British Journal of Dermatology

New Missense MutationImmunodeficienciesImmunologyPathologyDermatology +22

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

Wei‐Li Di, Su M. Lwin, Anastasia Petrova, +19

Human Gene Therapy

Ichthyosis Prematurity Syndrome

Su M. Lwin, Chao‐Kai Hsu, James R. McMillan, +2

JAMA Dermatology