research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
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30 / 1000+ resultsresearch P‐35 Nonlethal junctional epidermolysis bullosa in a dog
A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Epidermolysis bullosa in animals: a review
Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Stem Cell Therapies for Epidermolysis Bullosa Treatment
Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
research Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells
Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
research Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
research Advances in skin grafting and treatment of cutaneous wounds
Skin grafting and wound treatment have improved, but we need more research to better understand wound healing and create more effective treatments.
research Life before and beyond blistering: The role of collagen XVII in epidermal physiology
Collagen XVII is vital for skin structure, hair stem cell support, and skin cell regulation.
research Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Abstracts
New treatments and diagnostic methods for various animal skin conditions showed promising results.
research Hair follicle stem cell progeny heal blisters while pausing skin development
When skin blisters, healing the wound is more important than growing hair, and certain stem cells mainly fix the blisters without helping hair growth.
research 858 IPSC derived keratinocyte differentiation from reprogrammed blood cells
Blood cells turned into stem cells can become skin cells similar to normal ones, potentially helping in skin therapies.
research Mechanical forces in skin disorders
Skin problems can be caused or worsened by physical forces and pressure on the skin.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Cutaneous gene therapy
Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.