research Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
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30 / 87 results research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables
Mutant mice help researchers understand hair growth and related genetic factors.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update
The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research Genetically modified laboratory mice with sebaceous glands abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Hair follicles modulate skin barrier function
Hair follicles play a crucial role in regulating skin barrier function.
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 Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cholesterol homeostasis: Links to hair follicle biology and hair disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research The Epithelial Stem Cell Niche in Skin
Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle
Certain transporters are found in human hair follicles and may affect hair growth and loss.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
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 Autophagy Dysfunction: The Kernel of Hair Loss?
Manipulating cell cleanup processes could help treat hair loss.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.