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In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.

This study found that specific genetic changes in both coding and noncoding regions may have independently driven the evolution of hairlessness in various mammalian species through accelerated evolution.

This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.

In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.