Results 41 to 50 of about 2,763 (196)

Single-keratinocyte transcriptomic analyses identify different clonal types and proliferative potential mediated by FOXM1 in human epidermal stem cells

Nature Communications, 2021
Epidermal cultures can treat skin diseases, such as Junctional Epidermolysis Bullosa, but the signature of stem cells is unclear. By single cell RNAseq analyses on human keratinocytes, the authors identify the molecular profile of holoclones and the role
Elena Enzo, Alessia Secone Seconetti, Mattia Forcato, Elena Tenedini, Maria Pia Polito, Irene Sala, Sonia Carulli, Roberta Contin, Clelia Peano, Enrico Tagliafico, Silvio Bicciato, Sergio Bondanza, Michele De Luca   +12 more
doaj   +1 more source

BP180 gene delivery in junctional epidermolysis bullosa [PDF]

Gene Therapy, 1999
Epidermolysis bullosa (EB) comprises a family of inherited blistering skin diseases for which current therapy is only palliative. Junctional EB (JEB) involves dissociation of the dermal-epidermal junction and results from mutations in a number of genes that encode vital structural proteins, including BP180 (type XVII collagen/BPAG2).
C S, Seitz, G J, Giudice, S D, Balding, M P, Marinkovich, P A, Khavari   +4 more
openaire   +2 more sources

Inheritance of the Epidermolysis Bullosa Subtypes

, 2023
Epidermolysis bullosa (EB) is a group of inherited disorders that cause skin to blister and tear easily. The disease is caused by mutations in structural proteins that are key for maintaining the integrity of the skin’s basement membrane zone or ...
Beadini, Nexbedin, Elezi, Nevzat, Zhaku, Vegim, Bilalli, Sefedin, Uzeiri-Havziu, Crita, Beadini, Albulena, Alija, Gjylai, Temaj, Anjeza, Nuhii, Nexhibe, Elezi, Ron, Beadini, Sheqibe, Haxhiu- Zajmi, Arlinda, Gashi, Yllka, Shabani, Arjeta   +13 more
core   +1 more source

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

Incidence of P200 pemphigoid: A nationwide study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
The anti‐LAMB4 cell‐based immunoassay is a new serological technique that is far superior to dermal immunoblotting for detecting autoantibodies directed against the P200 protein. This method allows a re‐evaluation of the incidence of P200 pemphigoid, which appears to be considerably more frequent than epidermolysis bullosa acquisita.
Fabienne Jouen, Marion Carrette, Marie‐Laure Golinski, Maud Maho‐Vaillant, Alexis Lefebvre, André Gillibert, Pascal Joly, Vivien Hébert   +7 more
wiley   +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

Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa

, 1998
Junctional epidermolysis bullosa is a group of hereditary bullous disorders resulting from defects in several hemidesmosome-anchoring filament components.
Eady, Robin A.J., McGrath, John A., McMillan, James R., Tidman, Michael J.   +3 more
core   +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

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa

, 1998
Junctional epidermolysis bullosa is a heritable, heterogeneous blistering skin disease with mechanically induced dermal–epidermal separation, mild skin atrophy, nail dystrophy, and alopecia.
Owaribe, Katsushi, Hammami-Hauasli, Nadja, Trüeb, Ralph M., Fiedorowicz, Jan, Schäcke, Heike, Floeth, Michaela, Bruckner-Tuderman, Leena   +6 more
core   +1 more source

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