research Significance of stress keratin expression in normal and diseased epithelia
Stress keratins are expressed less in diseased skin and are linked to differentiation, inflammation, and immunity.
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330-360 / 1000+ resultsresearch A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly
The study revealed the detailed structure of a keratin dimer, aiding understanding of how intermediate filament proteins function.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis
Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
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.
research cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16
Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Menopause, skin and common dermatoses. Part 2: skin disorders
Menopause significantly affects skin health and conditions.
research Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
Marine mammals lost many α-keratin genes, aiding their adaptation to aquatic life by becoming hairless.
research Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol
Carvacrol activates the TRPV3 channel, which may help design new skin treatments.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research The Important Role of Leptin in Modulating the Risk of Dermatological Diseases
Leptin, a hormone from fat cells, affects immune responses and can influence skin diseases and hair growth.
research The Pressurized Skin: A Review on the Pathological Effect of Mechanical Pressure on the Skin from the Cellular Perspective
Understanding how skin cells react to pressure can help diagnose and manage pressure-related skin disorders.
research Hair shaft disorders in children – An update
Diagnosing and managing children's hair shaft disorders is challenging but essential.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Off-label uses of retinoids in dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.