A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

1999 ◽  
Vol 141 (4) ◽  
pp. 747-748 ◽  
Author(s):  
Sasaki ◽  
Shimizu ◽  
Akiyama ◽  
Hiraoka ◽  
Takizawa ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Mutation Report. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex

2004 ◽  
Vol 13 (3) ◽  
pp. 185-191 ◽  
Author(s):  
Marta Csikos ◽  
Zsuzsanna Szalai ◽  
Krisztina Becker ◽  
Bela Sebok ◽  
Imre Schneider ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

2020 ◽  
Vol 29 (10) ◽  
pp. 961-969
Author(s):  
Mbarka Bchetnia ◽  
Jean‐Pascal Allard ◽  
Anne‐Marie Boucher‐Lafleur ◽  
Tania Cruz Marino ◽  
Audrey Dupéré ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5 ◽  
Keratin 14

scholarly journals An Inducible Mouse Model for Epidermolysis Bullosa Simplex

2001 ◽  
Vol 152 (3) ◽  
pp. 651-656 ◽  
Author(s):  
Tongyu Cao ◽  
Mary Ann Longley ◽  
Xiao-Jing Wang ◽  
Dennis R. Roop
Keyword(s):  
Stem Cells ◽  
Mouse Model ◽  
Epidermolysis Bullosa ◽  
Topical Administration ◽  
Epidermolysis Bullosa Simplex ◽  
Normal Morphology ◽  
Autosomal Dominant Fashion ◽  
Keratin 14 ◽  
Blistering Disease ◽  
Laser Capture

The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease inherited in an autosomal-dominant fashion. Here we report the generation of a mouse model that allows focal activation of a mutant keratin 14 allele in epidermal stem cells upon topical administration of an inducer, resulting in EBS phenotypes in treated areas. Using laser capture microdissection, we show that induced blisters healed by migration of surrounding nonphenotypic stem cells into the wound bed. This observation provides an explanation for the lack of mosaic forms of EBS-DM. In addition, we show that decreased mutant keratin 14 expression resulted in normal morphology and functions of the skin. Our results have important implications for gene therapy of EBS and other dominantly inherited diseases.

Sign in / Sign up

Export Citation Format

Share Document