research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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5 / 129 resultsresearch 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 DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Three-Dimensional Imaging of Tight Junction Network Across Multiple Layers of Human Epidermis by Array Tomography Using Backscattered Electron-Mode Scanning Electron Microscopy
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 Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
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