Jon Cogan
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View article: Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial
Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial Open
Background Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable widespread blistering skin disorder caused by mutations in the gene encoding for type VII collagen (C7), the major component of anchoring fibrils. Objectives To e…
View article: Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants
Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants Open
ClinicalTrials.gov Identifiers: NCT03526159 and NCT04140786.
View article: Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa
Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa Open
View article: Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations
Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations Open
Generalized severe junctional epidermolysis bullosa (GS-JEB) is an incurable and fatal autosomal recessively inherited blistering skin disease caused by mutations in the LAMA3, LAMB3, or LAMC2 genes. Most of these mutations are nonsense mu…
View article: 594 Gentamicin therapy induces functional laminin 332 and improves wound healing in junctional epidermolysis bullosa patients harboring nonsense mutations
594 Gentamicin therapy induces functional laminin 332 and improves wound healing in junctional epidermolysis bullosa patients harboring nonsense mutations Open
View article: 1021 Intravenous gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations
1021 Intravenous gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations Open
View article: Gentamicin induces<i>LAMB3</i>nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
Gentamicin induces<i>LAMB3</i>nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa Open
Significance Premature termination codons (PTCs) generated by nonsense mutations produce abnormal, short, or diminished proteins. Eighty-three percent of patients with Herlitz junctional epidermolysis bullosa (H-JEB), an inherited, incurab…
View article: 425 Optimization of gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations
425 Optimization of gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations Open
View article: Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients Open
Epidermolysis Bullosa Research Partnership, Epidermolysis Bullosa Medical Research Foundation, NIH, and VA Merit Award.
View article: 299 Gentamicin therapy induced functional type VII collagen in recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations
299 Gentamicin therapy induced functional type VII collagen in recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations Open
View article: 389 Pirfenidone inhibits RDEB fibrosis and scarring
389 Pirfenidone inhibits RDEB fibrosis and scarring Open
View article: Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice
Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice Open