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GlossaryDesmoplakin

protein essential for cell adhesion in skin and heart tissues

Desmoplakin is a protein crucial for the structural integrity of cells, particularly in tissues that experience mechanical stress, like the skin and heart. It is a key component of desmosomes, which are specialized cell structures that anchor cells together. Mutations in the DSP gene, which encodes desmoplakin, can lead to conditions such as arrhythmogenic right ventricular cardiomyopathy and certain skin disorders.

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Three-Dimensional Imaging of Tight Junction Network Across Multiple Layers of Human Epidermis by Array Tomography Using Backscattered Electron-Mode Scanning Electron Microscopy

research Three-Dimensional Imaging of Tight Junction Network Across Multiple Layers of Human Epidermis by Array Tomography Using Backscattered Electron-Mode Scanning Electron Microscopy

August 2019 in “Journal of Investigative Dermatology”

The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.

research Bidirectional Binding Property of High Glycine–Tyrosine Keratin-Associated Protein Contributes to the Mechanical Strength and Shape of Hair

46 citations , June 2013 in “Journal of structural biology”

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research Effects of a Complex Mixture Prepared from Agrimonia, Houttuynia, Licorice, Peony, and Phellodendron on Human Skin Cells

4 citations , December 2020 in “Scientific Reports”

The plant extract mixture improves skin health by reducing inflammation, boosting collagen, and supporting anti-aging.

research Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy

5 citations , May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

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