Biomaterial Database

Therapies for epidermolysis bullosa: delivery is key. 2019

J Bremer, and P C van den Akker

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

UI	MeSH Term	Description	Entries
D004820	Epidermolysis Bullosa	Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.	Acantholysis Bullosa
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016108	Epidermolysis Bullosa Dystrophica	Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.	Cockayne-Touraine Disease,Epidermolysis Bullosa, Dystrophic,Hallopeau-Siemens Disease,Cockayne-Touraine Type Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosa, Autosomal Recessive,Epidermolysis Bullosa Dystrophica, Autosomal Recessive,Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type,Epidermolysis Bullosa Dystrophica, Dominant,Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type,Epidermolysis Bullosa Dystrophica, Recessive,Bullosa Dystrophica, Epidermolysis,Bullosa Dystrophicas, Epidermolysis,Bullosa, Dystrophic Epidermolysis,Bullosas, Dystrophic Epidermolysis,Cockayne Touraine Disease,Cockayne Touraine Type Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosas,Dystrophica, Epidermolysis Bullosa,Dystrophicas, Epidermolysis Bullosa,Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type,Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type,Epidermolysis Bullosa Dystrophicas,Epidermolysis Bullosas, Dystrophic,Hallopeau Siemens Disease
D016110	Epidermolysis Bullosa Simplex	A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.	Epidermolysis Bullosa Herpetiformis Dowling-Meara,Epidermolysis Bullosa Simplex Kobner,Weber-Cockayne Syndrome,EBS, Acral Form,EBS, Generalized,EBS-DM,Epidermolysis Bullosa Herpetiformis Dowling Meara,Epidermolysis Bullosa Herpetiformis, Dowling-Meara,Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type,Epidermolysis Bullosa Simplex, Cockayne-Touraine Type,Epidermolysis Bullosa Simplex, Dowling-Meara Type,Epidermolysis Bullosa Simplex, Generalized,Epidermolysis Bullosa Simplex, Koebner Type,Epidermolysis Bullosa Simplex, Localized,Epidermolysis Bullosa Simplex, Weber-Cockayne Type,Epidermolysis Bullosa of Hands and Feet,Weber-Cockayne Type Epidermolysis Bullosa Simplex,Acral Form EBS,Acral Form EBSs,Bullosa Simplices, Epidermolysis,EBSs, Acral Form,EBSs, Generalized,Epidermolysis Bullosa Herpetiformis, Dowling Meara,Epidermolysis Bullosa Herpetiformis, Dowling Meara Type,Epidermolysis Bullosa Simplex, Cockayne Touraine Type,Epidermolysis Bullosa Simplex, Dowling Meara Type,Epidermolysis Bullosa Simplex, Weber Cockayne Type,Epidermolysis Bullosa Simplices,Generalized EBS,Generalized EBSs,Weber Cockayne Syndrome,Weber Cockayne Type Epidermolysis Bullosa Simplex
D020040	Trans-Splicing	The joining of RNA from two different genes. One type of trans-splicing is the "spliced leader" type (primarily found in protozoans such as trypanosomes and in lower invertebrates such as nematodes) which results in the addition of a capped, noncoding, spliced leader sequence to the 5' end of mRNAs. Another type of trans-splicing is the "discontinuous group II introns" type (found in plant/algal chloroplasts and plant mitochondria) which results in the joining of two independently transcribed coding sequences. Both are mechanistically similar to conventional nuclear pre-mRNA cis-splicing. Mammalian cells are also capable of trans-splicing.	RNA Trans-Splicing,Trans RNA Splicing,Trans Splicing,RNA Splicing, Trans,RNA Trans Splicing,Splicing, Trans,Trans-Splicings, RNA