Results 51 to 60 of about 13,589 (213)

Expression of Integrins in Junctional and Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology, 1990
Recently, monoclonal antibodies (MoAb) have been raised against a family of adhesive membrane receptors (R) for extracellular matrix molecules known as integrins. In order to ascertain whether these adhesive proteins are normally expressed in inherited epidermolysis bullosa (EB) dermal epidermal junction, we studied the reactivity of MoAb recognizing ...
V. Nazzaro, E. Berti, A. Cerri, A. Brusasco, R. Cavalli, R. Caputo   +5 more
openaire   +3 more sources

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance Premature termination codons (PTCs) generated by nonsense mutations produce abnormal, short, or diminished proteins. Eighty-three percent of patients with Herlitz junctional epidermolysis bullosa (H-JEB), an inherited, incurable skin disease,
Vadim Lincoln, J. Cogan, Yingping Hou, M. Hirsch, Michelle Hao, V. Alexeev, M. De Luca, L. De Rosa, J. Bauer, D. Woodley, Mei Chen   +10 more
semanticscholar   +1 more source

Stem Cell Therapies for Epidermolysis Bullosa Treatment

Bioengineering, 2023
Epidermolysis bullosa (EB) includes a group of rare skin diseases characterized by skin fragility with bullous formation in the skin, in response to minor mechanical injury, as well as varying degrees of involvement of the mucous membranes of the ...
Argyrw Niti, Georgios Koliakos, Anna Michopoulou   +2 more
semanticscholar   +1 more source

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Einstein (São Paulo)
Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which ...
Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa   +8 more
doaj   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

PLoS ONE, 2023
The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong ...
Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg   +9 more
doaj   +3 more sources

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source

Mapping the burden of severe forms of epidermolysis bullosa – Implications for patient management

JAAD International, 2023
Background The pathophysiological processes underlying the phenotypic spectrum of severe forms of epidermolysis bullosa (EB) are complex and poorly understood.
J. Mellerio, D. Kiritsi, M. Marinkovich, Natividad Romero Haro, Kellie Badger, M. Arora, Marc A. Dziasko, M. Vithlani, Anna E. Martinez   +8 more
semanticscholar   +1 more source

Long‐Term Efficacy and Safety of Oleogel‐S10 (Birch Triterpenes) for Pediatric Patients With Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Pediatric patients with epidermolysis bullosa (EB) experience lifelong complications, and wound healing is an important treatment goal. In the phase III EASE study (NCT03068780), Oleogel‐S10 accelerated wound healing in EB.
Eli Sprecher, Mauricio Torres‐Pradilla, Maria Florencia Fernandez, Christine Bodemer, Anna L. Bruckner, Silvia Maria de Macedo Barbosa, Andrea Diociaiuti, Anna E. Martinez, Francis Palisson, Miloš Nikolić, Asunción Vicente, Raúl de Lucas, Noemi Toiber Temin, Sandra Löwe, Johannes S. Kern, Dédée F. Murrell, the EASE Study Group   +16 more
wiley   +1 more source

Anaesthesia for children with junctional epidermolysis bullosa (letalis) [PDF]

Canadian Journal of Anaesthesia, 1987
The anaesthetic management of two children with junctional epidermolysis bullosa, formerly called the letalis form, is described. Anaesthesia for children with this disease has not been described previously. Special precautions were taken to avoid mucosal injury and some customary monitoring devices were omitted.
R S, Holzman, H M, Worthen, K L, Johnson
openaire   +2 more sources