July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
This study found that culturing fibroblasts on stiffer substrates mimicking fibrotic wounds led to an aligned EDA fibronectin matrix with thinner fibers and decreased YAP activity, suggesting disrupted signaling that might be restored to promote regenerative wound repair.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
5 citations
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September 2013 in “BMB Reports” In this study, the anti-wrinkle effect of bone morphogenetic protein receptor 1a extracellular domain was significantly greater than that of retinoic acid in a mouse model, suggesting potential for BMP antagonists in skin or hair treatments.
4 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.
This study found that elastin-like recombinamer (ELR) wound dressings promote tissue regeneration and stability without rejection in ex vivo and in vivo models, indicating potential for hard-to-heal wound treatment.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
10 citations
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October 2015 in “Medicina Clínica (english Edition)” This review discusses the therapeutic potential and safety of bioidentical recombinant human epidermal growth factor (rhEGF) for various skin and mucosa conditions and reports no new clinical results.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments; linear filaments stabilize fused membranes, while branched filaments, connected by the protein Ezrin, drive integration, demonstrating actin's role in adapting to membrane biophysical changes.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
January 2023 in “Springer eBooks” This review discusses the causes, characteristics, and current management strategies for epidermolysis bullosa, emphasizing that while experimental therapies show promise, there are no definitive cures.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
168 citations
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December 1986 in “Cancer Chemotherapy and Pharmacology” Epirubicin is as effective as doxorubicin for cancer treatment with less heart damage, but doesn't work on doxorubicin-resistant cancers.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
4 citations
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July 2025 in “International Journal of Molecular Sciences” This review discusses Amphiregulin (AREG) as a potential target for treating fibrotic disorders and cancer, highlighting its role in disease progression and promising results in preclinical studies and early trials.
August 2009 in “Australian Prescriber” This article discusses dutasteride, a new drug for managing benign prostatic hyperplasia, and highlights the need for further experience to confirm its safety and efficacy.
21 citations
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April 2008 in “Toxicologic Pathology” This study found that CI-1033 caused skin lesions in rats that resemble effects seen in humans receiving EGF receptor inhibitors, suggesting this animal model can help explore the mechanisms behind this cutaneous toxicity.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers conducted additional IHC staining on equine skin sections and found that collagen type III primarily labels the extracellular matrix, while anti-PDGFR-antibody staining highlights cells with long-shaped processes mainly arranged around hair follicles.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
1 citations
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April 2023 in “Science Advances” This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.