Associated Papers
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
Revertant Mosaicism in Epidermolysis Bullosa.
Meyer-Mueller C et al.
Biomedicines, 2022
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Hoffmann J et al.
Acta Dermato-venereologica, 2019
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
New versatile monoclonal antibodies against type XVII collagen endodomain for diagnosis and subtyping COL17A1-associated junctional epidermolysis bullosa.
Yuen WY et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Amelioration of junctional epidermolysis bullosa due to exon skipping.
Kowalewski C et al.
The British Journal of Dermatology, 2016
Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.
Umegaki-Arao N et al.
Science Translational Medicine, 2014
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.
Pasmooij AM et al.
The Journal of Investigative Dermatology, 2012
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