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GlossaryPlakophilin-1

protein crucial for cell adhesion in skin and hair

Plakophilin-1 (PKP1) is a protein that plays a crucial role in the formation and maintenance of desmosomes, which are structures that help cells stick together, particularly in tissues that experience a lot of stress, like the skin and heart. Mutations in the gene encoding Plakophilin-1 can lead to skin disorders and hair loss conditions, such as ectodermal dysplasia/skin fragility syndrome, highlighting its importance in maintaining the integrity of epithelial tissues.

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research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

research Protein Profiling of Forehead Epidermal Corneocytes Distinguishes Frontal Fibrosing From Androgenetic Alopecia

March 2023 in “PLOS ONE”

Protein profiling of forehead skin can help distinguish between frontal fibrosing alopecia and androgenetic alopecia.

research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: An Update

52 citations, October 2012 in “Journal of Dermatological Science”

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.

Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

17 citations, February 2015 in “Cell Death and Disease”

Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.

research The Role of Tight Junctions in Skin Barrier Function and Dermal Absorption

156 citations, August 2016 in “Journal of controlled release”

Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.

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