Epidermolysis bullosa

A Bardhan, L Bruckner-Tuderman… - Nature Reviews …, 2020 - nature.com
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C Has, JW Bauer, C Bodemer… - British Journal of …, 2020 - academic.oup.com
Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

LRG1: an emerging player in disease pathogenesis

C Camilli, AE Hoeh, G De Rossi, SE Moss… - Journal of biomedical …, 2022 - Springer
The secreted glycoprotein leucine-rich α-2 glycoprotein 1 (LRG1) was first described as a
key player in pathogenic ocular neovascularization almost a decade ago. Since then, an …

Opportunities and challenges in phenotypic drug discovery: an industry perspective

JG Moffat, F Vincent, JA Lee, J Eder… - Nature reviews Drug …, 2017 - nature.com
Phenotypic drug discovery (PDD) approaches do not rely on knowledge of the identity of a
specific drug target or a hypothesis about its role in disease, in contrast to the target-based …

Molecular pathophysiology of chronic wounds: current state and future directions

I Pastar, NC Balukoff, J Marjanovic… - Cold Spring …, 2023 - cshperspectives.cshlp.org
Venous leg ulcers, diabetic foot ulcers, and pressure ulcers are complex chronic wounds
with multifactorial etiologies that are associated with high patient morbidity and mortality …

Epidermolysis bullosa-associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives

AG Condorelli, E Dellambra, E Logli… - International journal of …, 2019 - mdpi.com
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders determined
by mutations in genes encoding for structural components of the cutaneous basement …

Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa

SA Hong, SE Kim, AY Lee, GH Hwang, JH Kim… - Molecular Therapy, 2022 - cell.com
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder
caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen …

The role of TGFβ in wound healing pathologies

D Kiritsi, A Nyström - Mechanisms of ageing and development, 2018 - Elsevier
Wound healing is one of the most complex processes in multicellular organisms, involving
numerous intra-and intercellular signalling pathways in various cell types. It involves …

Matrix molecules and skin biology

A Nyström, L Bruckner-Tuderman - Seminars in Cell & Developmental …, 2019 - Elsevier
An extracellular matrix (ECM) is a prerequisite for multicellular life. It is adapted to tissues
and constantly undergoes changes to preserve microenvironmental homeostasis. The ECM …

Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects

PC Hou, N Del Agua, SM Lwin, CK Hsu… - … and Clinical Risk …, 2023 - Taylor & Francis
Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary
group of trauma-induced blistering skin disorders. DEB is caused by inherited pathogenic …