Results 41 to 50 of about 3,777 (193)

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

Deficient skin proteins rescue of expression in patients with epidermolysis bullosa: efficacy of gentamicin [PDF]

Vestnik Dermatologii i Venerologii
Epidermolysis bullosa is a group of rare hereditary skin diseases based on mutations in the genes of structural proteins of the epidermis and the dermal-epidermal junction.
Olga G. Artamonova, Arfenya E. Karamova, Alexey A. Kubanov, Vadim V. Chikin, Ekaterina S. Monchakovskaya   +4 more
doaj   +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

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

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

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

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [PDF]

Experimental Dermatology, 2008
Abstract:  Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%)
Ningning, Dang, Dédée F, Murrell
openaire   +2 more sources

BRD9 inhibition as potential treatment option for testicular germ cell tumors

Andrology, EarlyView.
Abstract Background Testicular germ cell tumors (TGCT) are the predominant tumor in younger males. Usually, 5‐year survival rates are quite high, but 15–20% of patients with metastatic non‐seminomas are resistant to standard cisplatin‐based therapy.
Aylin Hansen, Christine Sanders, Florian Fronhoffs, Kai Funke, Glen Kristiansen, Hubert Schorle   +5 more
wiley   +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