Results 41 to 50 of about 4,117 (196)

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Molecular Genetics & Genomic Medicine, 2023
Background Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr).
Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu   +4 more
doaj   +1 more source

A variant of uncertain significance in COL7A1 in Bart syndrome: A case report. [PDF]

JAAD Case Rep
La T, Gordon K.
europepmc   +2 more sources

Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa

Stem Cell Research, 2023
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen.
Camille Vincent, Nathalie Lefort, Mathieu Hamlin, Céline Banal, Alain Hovnanian, Araksya Izmiryan   +5 more
doaj   +1 more source

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa [PDF]

, 1999
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa ...
Salas-Alanis, Julio C., Eady, Robin A.J., Mohammedi, Rafik, Mellerio, Jemima E., Ashton, Gabrielle H.S., Black, Martin M., Harman, Karen E., McGrath, John A., Griffiths, W. Andrew D., Kirby, Brian, Atherton, David J., Harrison, Phillip V., Lyon, Calum C.   +12 more
core   +1 more source

5′RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa

, 2022
Mutations within the COL7A1 gene underlie the inherited recessive subtype of the blistering skin disease dystrophic epidermolysis bullosa (RDEB). Although gene replacement approaches for genodermatoses are clinically advanced, their implementation for ...
Elisabeth Mayr, Stefan Hainzl, Ulrich Koller, Christina Guttmann-Gruber, Verena Wally, Michael Ablinger, Eva M. Murauer, Josefina Piñón Hofbauer, Manfred Kaiser, Alfred Klausegger, Thomas Lettner, Johann W. Bauer   +11 more
core   +1 more source

Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors

Molecular Therapy: Methods & Clinical Development, 2022
Recessive dystrophic epidermolysis bullosa, a devastating skin fragility disease characterized by recurrent skin blistering, scarring, and a high risk of developing squamous cell carcinoma is caused by mutations in COL7A1, the gene encoding type VII ...
Marta García, Jose Bonafont, Jesús Martínez-Palacios, Rudan Xu, Giandomenico Turchiano, Stina Svensson, Adrian J. Thrasher, Fernando Larcher, Marcela Del Rio, Rubén Hernández-Alcoceba, Marina I. Garín, Ángeles Mencía, Rodolfo Murillas   +12 more
doaj   +1 more source

Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa [PDF]

, 1996
Recessive dystrophic epidermolysis bullosa is an inherited mechano-bullous disorder of skin and mucous membranes. Ultrastructurally, the disease is characterized by abnormalities of anchoring fibrils, attachment structures below the epidermal basement ...
Christiano, Angela M., Eady, Robin A.J., McGrath, John A., Richards, Allan J., Uitto, Jouni, Giles S. Dunnill, M., Michael Pope, F.   +6 more
core   +1 more source

Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 2020
End-joining‒based gene editing is frequently used for efficient reframing and knockout of target genes. However, the associated random, unpredictable, and often heterogeneous repair outcomes limit its applicability for therapeutic approaches. This study revealed more precise and predictable outcomes simply on the basis of the sequence context at the ...
Thomas Kocher, Oliver Patrick March, Johannes Bischof, Bernadette Liemberger, Stefan Hainzl, Alfred Klausegger, Anna Hoog, Dirk Strunk, Johann Wolfgang Bauer, Ulrich Koller   +9 more
openaire   +2 more sources

Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa [PDF]

, 1997
Mutations in the type VII collagen gene (COL7A1) are known to underlie different forms of the inherited blistering skin disease dystrophic epidermolysis bullosa (DEB).
Christiano, Angela M., Eady, Robin A.J., Dunnill, M.Giles S., McGrath, John A., Uitto, Jouni, Mellerio, Jemima E., Ashton, Gabrielle H.S., Allison, Waridibe   +7 more
core   +1 more source

Gene Therapy for the COL7A1 Gene

, 2013
Epidermolysis bullosa (EB) is a genetically and clinically variable disease characterized by blis‐ ter formation and erosions of the skin and mucous membranes after minor trauma [1]. The in‐ heritance of the affected genes can occur in a dominant or recessive way depending on the subform of the disease.
E. Mayr, U. Koller, J.W. Bauer
openaire   +2 more sources