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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 Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness

March 2022

Hairless mammals evolved quickly in both gene and non-gene areas related to skin and hair.

research Intercellular Junctions in Normal Epidermis

2 citations , September 2004 in “Experimental Dermatology”

Desmosomal adhesion is essential for healthy skin structure and function.

research Animal Models of Human Skin Disease

4 citations , September 2004 in “Experimental Dermatology”

Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.

research Folliculin Interacts With P0071 (Plakophilin-4) and Deficiency Is Associated With Disordered RhoA Signalling, Epithelial Polarization, and Cytokinesis

47 citations , September 2012 in “Human molecular genetics online/Human molecular genetics”

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

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.

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