research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
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270-300 / 1000+ resultsresearch 509 Using the human iPSCs-derived sensory neurons re-innervated skin ex vivo model to investigate mast cell-nerve fiber cross-talk in solar elastosis
Nerve fibers may worsen mast cell activity, leading to abnormal elastic fiber buildup from sun exposure.
research Dedicator of Cytokinesis 5 Regulates Keratinocyte Function and Promotes Diabetic Wound Healing
Dock5 is important for skin healing and could help treat diabetic wounds.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
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 Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Mechanical Instability of Adherens Junctions Overrides Intrinsic Quiescence of Hair Follicle Stem Cells
Weak cell junctions disrupt hair follicle stem cell rest.
research EDA Fibronectin Microarchitecture and YAP Translocation During Wound Closure
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
research Progenitor Cell Dysfunctions Underlie Some Diabetic Complications
Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Langerin+ Dendritic Cells in Cutaneous Fibrosis: The TGF-β1 Signaling Axis
Targeting specific cell interactions may help treat skin fibrosis.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases
Abnormal ECM and immune cell interactions can cause skin diseases.
research Cell adhesion molecules in inflammatory and neoplastic skin diseases
Cell adhesion molecules are important in the development of certain skin diseases.
research Polarity signaling ensures epidermal homeostasis by coupling cellular mechanics and genomic integrity
Par3 protein is essential for skin cell balance and stability.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Murine Epidermal Ceramide Synthase 4 Is a Key Regulator of Skin Barrier Homeostasis
Ceramide Synthase 4 is crucial for healthy skin barrier function.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.