[HTML][HTML] Challenges and progress related to gene editing in rare skin diseases

J Piñón-Hofbauer, C Guttmann-Gruber, V Wally… - Advanced Drug Delivery …, 2024 - Elsevier
Genodermatoses represent a large group of inherited skin disorders encompassing
clinically-heterogeneous conditions that manifest in the skin and other organs. Depending …

Towards Diagnosis of Autoimmune Blistering Skin Diseases Using Deep Neural Network

M Singh, M Singh, D De, S Handa, R Mahajan… - … Methods in Engineering, 2023 - Springer
There are many skin disorders that affect human beings and symptoms of many skin
diseases are common. Therefore, understanding the real differences between them is …

[HTML][HTML] Absence of NC14A domain of COLXVII/BP180 in mice results in IL-17‒associated skin inflammation

O Lindgren, G Le Menn, J Tuusa, ZJ Chen… - Journal of Investigative …, 2023 - Elsevier
The deletion of exon 18 from Col17a1 in transgenic ΔNC14A mice results in the absence of
the NC14A domain. NC14A corresponds to the human NC16A domain, the …

Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa

F Gila, V Alamdari-Palangi, M Rafiee, A Jokar… - Journal of Applied …, 2024 - Springer
Epidermolysis bullosa (EB) is a group of rare genetic skin fragility disorders, which are
hereditary. These disorders are associated with mutations in at least 16 genes that encode …

Case report: Diagnostic and therapeutic challenges in severe mechanobullous epidermolysis bullosa acquisita

F Schauer, A Nyström, M Kunz, S Hübner… - Frontiers in …, 2022 - frontiersin.org
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures
that attach the epidermis to the dermal extracellular matrix. Two disorders are caused by …

Skin matrix meets immunomatrix—Implications for genetic and acquired diseases

A Nyström, G Conradt, S Lehr… - JEADV Clinical Practice, 2024 - Wiley Online Library
An extracellular matrix (ECM) is essential for multicellular life. Apart from being a scaffold, it
is an actively signalling unit, orchestrating homo‐and heterocellular communication to …

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5

F Paduano, E Colao, T Grillone, MFM Vismara… - Genes, 2021 - mdpi.com
Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses
characterised by the formation of superficial bullous lesions caused by minor mechanical …

Inborn errors of immunity and immunodeficiencies: Antibody‐mediated pathology and autoimmunity as a consequence of impaired immune reactions

S Minguet, A Nyström, D Kiritsi… - European journal of …, 2022 - Wiley Online Library
B‐cell tolerance to self‐antigen is an active process that requires the temporal and spatial
integration of signals of defined intensity. In common variable immune deficiency disorders …

Fallbericht: Diagnostische und therapeutische Herausforderungen bei schwerer mechanobullöser Epidermolysis bullosa acquisita

F Schauer, A Nyström, M Kunz, S Hübner… - Kompass …, 2022 - karger.com
Kollagen VII ist der Hauptbestandteil der Verankerungsfibrillen, wichtigen adhäsiven
Strukturen, die die Epidermis an der extrazellulären Matrix der Dermis befestigen. Zwei …