research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
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research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
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 Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research The Roles of WNT Signaling Pathways in Skin Development and Mechanical-Stretch-Induced Skin Regeneration
WNT signaling is crucial for skin development and healing.
research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research Proteomics as a Tool to Improve Novel Insights into Skin Diseases: What We Know and Where We Should Be Going
Proteomics combined with other technologies can lead to a better understanding of skin diseases.
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and 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 Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Mechanical Forces in Skin Disorders
Skin problems can be caused or worsened by physical forces and pressure on the skin.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Differential Proteomics of Lesional vs. Non-Lesional Biopsies Revealed Non-Immune Mechanisms of Alopecia Areata
Non-immune factors play a significant role in alopecia areata.
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 Bidirectional Binding Property of High Glycine–Tyrosine Keratin-Associated Protein Contributes to the Mechanical Strength and Shape of Hair
High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Cell Death by Cornification
Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research Fzd2 Controls Multiple Aspects of Epidermal Development Through Distinct Signaling Mechanisms
Fzd2 is important for skin and hair development through various signaling ways.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organs
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Keratin Intermediate Filaments in the Colon: Guardians of Epithelial Homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research The Function and Structure of the Skin
The skin protects the body, regulates temperature, senses touch, and makes vitamin D.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.