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. 2019 Dec 26;116(52):26147-26149.
doi: 10.1073/pnas.1919347117. Epub 2019 Dec 11.

Toward treatment and cure of epidermolysis bullosa

Jouni Uitto  1   2
Affiliations

Toward treatment and cure of epidermolysis bullosa

Jouni Uitto. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The author declares no competing interest.

Figures

Fig. 1.
Fig. 1.
Schematic representation of the cutaneous basement membrane zone depicting attachment complexes critical for stable cell–cell contacts and association of epidermis to the underlying dermis. The boxed proteins, which are encoded by 21 distinct genes, are mutated in different forms of EB, the prototype of heritable blistering skin disorders. Adapted from ref. , with permission from Elsevier.
See this image and copyright information in PMC

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References

    1. Fine J. D., et al. , Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J. Am. Acad. Dermatol. 70, 1103–1126 (2014). - PubMed
    1. Uitto J., Has C., Vahidnezhad H., Youssefian L., Bruckner-Tuderman L., Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa. Matrix Biol. 57-58, 76–85 (2017). - PubMed
    1. Has C., et al. , Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br. J. Dermatol.10.1111/bjd.18128 (15 May 2019). - DOI - PMC - PubMed
    1. Vahidnezhad H., Youssefian L., Saeidian A. H., Uitto J., Phenotypic spectrum of epidermolysis bullosa: The paradigm of syndromic versus non-syndromic skin fragility disorders. J. Invest. Dermatol. 139, 522–527 (2019). - PubMed
    1. Jacków J., et al. , CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells. Proc. Natl. Acad. Sci. U.S.A. 116, 26846–26852 (2019). - PMC - PubMed

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