research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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120-150 / 684 results 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 Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Exploring the Effects of Wetting and Free Fatty Acid Deposition on a Hair Fiber Surface Model Incorporating Keratin Associated Protein 5-1
Water and fatty acids affect hair's surface differently based on hair damage, and models can help understand hair-cosmetic interactions.
research Polymorphisms in the Human High Sulfur Hair Keratin-Associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Impact of Taxol on Dermal Papilla Cells: A Proteomics and Bioinformatics Analysis
Taxol damages hair growth cells, causing hair loss.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research Intermittent Treatment with Farnesyltransferase Inhibitor and Sulforaphane Improves Cellular Homeostasis in Hutchinson-Gilford Progeria Fibroblasts
Alternating treatment with two drugs could help cells in a rapid aging disease.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research Ornithine Decarboxylase Is Upregulated by the Androgen Receptor in Skeletal Muscle and Regulates Myoblast Proliferation
Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
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 Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity
A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
research Skin-Specific Expression of a Truncated E1a Oncoprotein Binding to p105-Rb Leads to Abnormal Hair Follicle Maturation Without Increased Epidermal Proliferation
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Expression and Roles of Steroidogenic Acute Regulatory (StAR) Protein in Non-Classical, Extra-Adrenal, and Extra-Gonadal Cells and Tissues
The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
research The Activin Binding Proteins Follistatin and Follistatin-Related Protein Are Differentially Regulated In Vitro and During Cutaneous Wound Repair
FLRG and follistatin have different roles in wound healing.
research Molecular Modeling and Structural Characterization of a High Glycine–Tyrosine Hair Keratin Associated Protein
The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.
research Helminth Protein Enhances Wound Healing by Inhibiting Fibrosis and Promoting Tissue Regeneration
Helminth protein helps wounds heal better by reducing scarring and promoting tissue growth.
research The G-Protein Coupled Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research Bone Morphogenetic Proteins and Their Antagonists in Skin and Hair Follicle Biology
Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.
research Bone Morphogenetic Protein Signaling Regulates Postnatal Hair Follicle Differentiation and Cycling
Blocking BMP signaling causes hair loss and disrupts hair growth cycles.
research Conversion of the Nipple to Hair-Bearing Epithelia by Lowering Bone Morphogenetic Protein Pathway Activity at the Dermal-Epidermal Interface
Blocking a specific protein signal can make hair grow on mouse nipples.
research GLI2-Specific Transcriptional Activation of the Bone Morphogenetic Protein/Activin Antagonist Follistatin in Human Epidermal Cells
GLI2 increases follistatin production in human skin cells.
research Macrophage-Stimulating Protein Promotes Hair Growth Ex Vivo and Induces Anagen from Telogen Stage Hair Follicles In Vivo
Macrophage-stimulating protein helps hair grow and can start hair growth phase in mice and human hair samples.