Results 11 to 20 of about 13,589 (213)

Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa

Cell Reports, 2019
Summary: Laminin 332-deficient junctional epidermolysis bullosa (JEB) is a severe genetic skin disease. JEB is marked by epidermal stem cell depletion, the origin of which is unknown.
Laura De Rosa, Alessia Secone Seconetti, Giorgio De Santis, Giovanni Pellacani, Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Graziella Pellegrini, Johann W. Bauer, Michele De Luca   +9 more
doaj   +2 more sources

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Clinics and Practice, 2023
Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma.
Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin, Alin Laurentiu Tatu   +6 more
doaj   +2 more sources

Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. [PDF]

PLoS ONE, 2015
In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease.
Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Julio Benavides, Valentín Perez, Gwenola Tosser-Klopp, Christophe Klopp, Stephen J Keennel, Juan José Arranz   +7 more
doaj   +2 more sources

Junctional epidermolysis bullosa [PDF]

Definitions, 2020
Junctional epidermolysis bullosa (JEB) induces skin fragility slightly deeper in the basement membrane zone affecting the lamina lucida. It is most commonly inherited in an autosomal recessive manner. Mutations include LAMA3, LAMB3, LAMC2, COL17A1, ITGA6,
T. Shwayder, S. Schneider, Devika Icecreamwala, M. Jahnke   +3 more
semanticscholar   +4 more sources

Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

International Journal of Women's Dermatology, 2016
Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and ...
Minhee Kim, MBBS, Swaranjali Jain, BMedSci(Hons), Adam G. Harris, MBChB, Dedee F. Murrell, MA, BMBCh, FAAD, MD, FACD, FRCP(Edin)   +3 more
doaj   +2 more sources

Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity.

Journal of Investigative Dermatology, 2023
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. Current genotype-phenotype paradigms are insufficient to accurately predict JEB subtype and characteristics from genotype ...
David Wen, M. Hunjan, A. Bardhan, Natasha Harper, M. Ogboli, L. Ozoemena, Lu Liu, J. Fine, I. Chapple, D. Balacco, A.H.M. Heagerty   +10 more
semanticscholar   +1 more source

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa

Frontiers in Medicine, 2022
Background Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together.
I. Petkovic, J. Bischof, T. Kocher, O. March, B. Liemberger, S. Hainzl, D. Strunk, A. Raninger, H. Binder, J. Reichelt, C. Guttmann-Gruber, V. Wally, J. Piñón Hofbauer, J. Bauer, U. Koller   +14 more
semanticscholar   +1 more source

Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.

JAMA dermatology, 2022
Importance Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality often caused by nonsense variants in the genes that encode laminin 332.
D. Mosallaei, Michelle Hao, R. Antaya, B. Levian, A. Kwong, J. Cogan, C. Hamilton, A. Schwieger-Briel, C. Tan, Xinlei Tang, D. Woodley, Mei Chen   +11 more
semanticscholar   +1 more source

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

Molecular Therapy, 2022
Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by mutations in genes encoding laminin-332, type XVII collagen (C17), and integrin-α6β4, which maintain stability between the dermis and epidermis.
J. Bischof, O. March, B. Liemberger, S. Haas, S. Hainzl, I. Petkovic, V. Leb-Reichl, J. Illmer, Evgeniia Korotchenko, A. Klausegger, Anna Hoog, H. Binder, Marta García, B. Duarte, D. Strunk, F. Larcher, J. Reichelt, C. Guttmann-Gruber, V. Wally, J. P. Hofbauer, J. Bauer, T. Cathomen, T. Kocher, U. Koller   +23 more
semanticscholar   +1 more source

Efficacy of intradermal allogeneic fibroblast injections in junctional epidermolysis bullosa

Russian Open Medical Journal, 2022
Objective — to assess the efficacy and safety of intradermal injections of allogeneic fibroblasts into non-healing wounds in a patient with junctional epidermolysis bullosa.
Alexey A. Kubanov, Arfenya E. Karamova, Vadim V. Chikin, Ekaterina S. Monchakovskaya, Mariya A. Nefedova   +4 more
doaj   +1 more source