research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
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150-180 / 1000+ results research Nelfb promotes dermal white adipose tissue formation through RNA Polymerase II mediated adipogenic gene regulation
Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
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.
research Epimorphin and Epithelial Morphogenesis
Epimorphin helps shape and develop epithelial cells, like those in hair follicles.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Epidermal differentiation: The role of proteases and their inhibitors
Balanced protease activity is crucial for healthy skin and hair development.
research Decision letter: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are vital for proper skin structure formation and function.
research Epidermal and hair follicle transglutaminases and crosslinking in skin
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Fibroblast state switching orchestrates dermal maturation and wound healing
Fibroblast behavior is key for skin structure and healing.
research A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity
Keratin is crucial for skin barrier formation and affects mitochondrial function.
research Expansion of specialized epidermis induced by hormonal state and mechanical strain
Hormones and stretching both needed for nipple area skin growth in mice.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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 1435 Dynamic morphogen-p63 chromatin interactions that guide epigenetic changes and p63 activity in surface ectoderm commitment
The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Epithelial–mesenchymal transition in keloid tissues and TGF‐β1 –induced hair follicle outer root sheath keratinocytes
Keloid scars may form due to changes in skin cell characteristics and specific protein signaling.
research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Localization of Type I Human Skin Collagenase in Developing Embryonic and Fetal Skin
research Reprogramming adult dermis to a neonatal state through epidermal activation of β-catenin
Activating a protein called β-catenin in adult skin can make it behave like young skin, potentially helping with skin aging and hair loss.
research Self-Organizing 3D Dermal Papilla Cell Spheroids Yield Therapeutic Extracellular Vesicles that Target Hypertrophic Scar Regression via the miR-26a-5p/CCNE2 Axis
3D cell spheroids can help reduce scars by delivering therapeutic vesicles.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.