[HTML][HTML] Challenges and progress related to gene editing in rare skin diseases
Genodermatoses represent a large group of inherited skin disorders encompassing
clinically-heterogeneous conditions that manifest in the skin and other organs. Depending …
clinically-heterogeneous conditions that manifest in the skin and other organs. Depending …
Towards Diagnosis of Autoimmune Blistering Skin Diseases Using Deep Neural Network
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
Strukturen, die die Epidermis an der extrazellulären Matrix der Dermis befestigen. Zwei …