research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs 28 citations , February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Dermatopathology and molecular genetics 12 citations , February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Current Genetics in Hair Diseases 1 citations , February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome 31 citations , August 2005 in “The American Journal of Dermatopathology” 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 16 citations , November 2022 in “eLife” Both gene and non-gene areas of DNA evolved to make some mammals hairless.