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Glossary Plakophilin-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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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”

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.

research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases

August 2026

This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.

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”

This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

research Animal models of human skin disease

4 citations , September 2004 in “Experimental Dermatology”

This article reviews the role of epidermal proteins and their complex gene families in maintaining skin integrity and highlights insights gained from genetic studies and mouse models, without providing new clinical results.

research Immunolocalization of junctional proteins in human hairs indicates that the membrane complex stabilizes the inner root sheath while desmosomes contact the companion layer through specific keratins

12 citations , January 2013 in “Acta Histochemica”

Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.

research Intercellular junctions in normal epidermis

2 citations , September 2004 in “Experimental Dermatology”

This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.

research Decision letter: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness

March 2022

This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.

research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome

31 citations , August 2005 in “The American Journal of Dermatopathology”

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.

research Inherited Disorders of the Hair

2 citations , January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

research Clinical and molecular genetic studies in hereditary hair loss

August 2021

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

research Alopecia in Epidermolysis Bullosa

21 citations , November 2009 in “Dermatologic Clinics”

This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.

research Hair Loss in Autoimmune Cutaneous Bullous Disorders

12 citations , May 2011 in “Dermatologic Clinics”

This review discusses the association between scarring alopecia and inflammatory processes in common acquired bullous disorders of the scalp, and reports no new clinical findings.

research Dermatopathology and molecular genetics

12 citations , February 2008 in “Journal of The American Academy of Dermatology”

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.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

72 citations , November 2012 in “PloS one”

This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

research Beyond Expectations

70 citations , January 2014 in “International review of cell and molecular biology”

This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.

Bioinformatics Analysis of Genes Associated with Patchy-Type Alopecia Areata: CD2 May Be a New Therapeutic Target

research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target

4 citations , September 2019 in “Biomedical Papers/Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic”

This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.

research Epithelial–mesenchymal transition in cutaneous fibrosis disease: from mechanisms to therapy

June 2026 in “Frontiers in Immunology”

This review discusses the role of epithelial–mesenchymal transition in cutaneous fibrotic disorders and highlights potential molecular targets for therapy, but reports no new clinical results.

research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

August 2022 in “Frontiers in genetics”

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

research Novel insights into cardiocutaneous syndromes

May 2022

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.

research An Investigation of Hair and its Keratin Associated Proteins using Advanced Light Microscopy

January 2019 in “Durham e-Theses (Durham University)”

This study utilized advanced imaging techniques to quantify hair damage and dye uptake dynamics, revealing that compound penetration in hair is influenced by molecule size and lipophilicity.

research Towards a molecular understanding of hair loss and its treatment

236 citations , July 2001 in “Trends in Molecular Medicine”

This review discusses common hair loss conditions and explores how advancements in hair follicle biology might lead to more effective treatments but reports no new results.

research The role of tight junctions in skin barrier function and dermal absorption

156 citations , August 2016 in “Journal of controlled release”

This review summarizes current knowledge on tight junctions in mammalian skin and their role in drug delivery and interaction with other barrier components, but reports no new experimental results.

research Genetic basis of skin appendage development

111 citations , January 2007 in “Seminars in cell & developmental biology”

This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.

research Biology and Genetics of Hair

89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

research Mechanical forces in skin disorders

65 citations , March 2018 in “Journal of Dermatological Science”

This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.

research The genetics of hair shaft disorders

59 citations , June 2008 in “Journal of The American Academy of Dermatology”

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: An Update

research Anatomy and Function of the Skin

40 citations , January 2016 in “Elsevier eBooks”

This article explains the structure and multifunctional roles of the human skin, including its protective, regulatory, and sensory functions, but does not report new research findings.