[HTML][HTML] Extracellular matrix in skin diseases: the road to new therapies

MD Malta, MT Cerqueira, AP Marques - Journal of Advanced Research, 2023 - Elsevier
Background The extracellular matrix (ECM) is a vital structure with a dynamic and complex
organization that plays an essential role in tissue homeostasis. In the skin, the ECM is …

Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases

P Li, K Rietscher, H Jopp, TM Magin… - Current Opinion in Cell …, 2023 - Elsevier
The keratin cytoskeleton protects epithelia against mechanical, nonmechanical, and
physical stresses, and participates in multiple signaling pathways that regulate cell integrity …

A Review of CRISPR-Based Advances in Dermatological Diseases

X Lu, H Jin - Molecular Diagnosis & Therapy, 2023 - Springer
Clustered regularly interspaced short palindromic repeat (CRISPR) has revolutionized
biomedical research by offering novel approaches to genetic and epigenetic manipulation …

[HTML][HTML] Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives

M Bchetnia, J Powell, C McCuaig… - International Journal of …, 2024 - mdpi.com
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of
mechanobullous diseases characterized by non-scarring blisters and erosions on the skin …

Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells

S König, M Fliegauf, M Rhiel, B Grimbacher, TI Cornu… - Genes, 2022 - mdpi.com
Dominant negative mutations in the STAT3 gene account for autosomal dominant hyper-IgE
syndrome (AD-HIES). Patients typically present high IgE serum levels, recurrent infections …

A bioinformatic analysis of gene editing off-target loci altered by common polymorphisms, using 'PopOff'

C Samson, A du Rand, J Hunt, W Whitford… - Journal of the Royal …, 2024 - Taylor & Francis
Gene editing therapies are designed to minimise off-target editing. However, it is not
widespread practice for common polymorphisms to be considered when identifying potential …

[HTML][HTML] Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

V Bolduc, K Sizov, A Brull, E Esposito, GS Chen… - bioRxiv, 2024 - ncbi.nlm.nih.gov
The application of allele-specific gene editing tools can expand the therapeutic options for
dominant genetic conditions, either via gene correction or via allelic gene inactivation in …

Etude des mécanismes moléculaires de l'épidermolyse bulleuse simple à partir de cellules souches humaines induites à la pluripotence

S Martineau - 2024 - theses.hal.science
L'Epidermolyse bulleuse simplex (EBS) est une maladie cutanée principalement causée par
des mutations dominantes dans les gènes codant les kératines 5 (KRT5) ou 14 (KRT14) …

Applications of CRISPR-Cas9 in Gene Therapy: Generating a cell culture model and developing tools for a sheep model of Epidermolytic Ichthyosis

J Blaine - 2024 - researchspace.auckland.ac.nz
Epidermolytic ichthyosis is a hereditary skin condition caused by mutations in the KRT1 or
KRT10 genes that alter the structure of the associated keratin proteins leading to …