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epidermolysis bullosa

Increased Abundance of Cbl E3 Ligases Alters PDGFR Signaling in Recessive Dystrophic Epidermolysis Bullosa

[Matrix Biology] Investigators indicated that elevated TGFβ signaling led to an attenuated response to growth factors, which contributed to impaired dermal wound healing in recessive dystrophic epidermolysis bullosa.

Krystal Biotech and GeneDx Announce Collaboration to Provide No-Charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa (DEB)

[Krystal Biotech, Inc.] Krystal Biotech, Inc. and GeneDx, Inc. announced a collaboration offering no-charge genetic testing for all types of Epidermolysis Bullosa.

Pro-Inflammatory Immunity Supports Fibrosis Advancement in Epidermolysis Bullosa: Intervention with Ang-(1–7)

[EMBO Molecular Medicine] Longitudinal analyses of the tissue proteome through the course of naturally developing disease in recessive dystrophic epidermolysis bullosa mice revealed that increased pro-inflammatory immunity associates with fibrosis evolution.

Gain-of-Function Mutation in Ubiquitin-Ligase KLHL24 Causes Desmin Degradation and Dilatation in hiPSC-Derived Engineered Heart Tissues

[Journal of Clinical Investigation] Dynamically loaded engineered heart tissues (dyn-EHTs) were generated from human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes from two patients and three (non)familial controls. KLHL24 RNA interference or direct desmin overexpression recovered desmin protein levels, restoring morphology and function in patient-derived dyn-EHTs.

The Utility of Dermal Fibroblasts in Treatment of Skin Disorders: A Paradigm of Recessive Dystrophic Epidermolysis Bullosa

[Dermatologic Therapy] The authors review literature about ongoing and completed clinical trials that applied fibroblasts and bioengineered fibroblasts as therapeutic agents for various skin disorders.

Single-Keratinocyte Transcriptomic Analyses Identify Different Clonal Types and Proliferative Potential Mediated by FOXM1 in Human Epidermal Stem Cells

[Nature Communications] Scientists reported that single-cell transcriptome analysis of primary human epidermal cultures identifies categories of genes clearly distinguishing the different keratinocyte clonal types, which are hierarchically organized along a continuous, mainly linear trajectory showing that stem cells sequentially generate progenitors producing terminally differentiated cells.

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