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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 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.

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

December 2025

Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.

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 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 Intercellular junctions in normal epidermis

2 citations , September 2004 in “Experimental Dermatology”

Desmosomal adhesion is essential for healthy skin structure and function.

research Decision letter: 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 Connexin 43 expression in the testes during postnatal development of finasteride-treated male rat offspring

3 citations , February 2017 in “Archives of Medical Science”

Finasteride treatment changes Cx43 in rat testes, possibly causing fertility issues.

research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

13 citations , August 2005 in “Journal of Investigative Dermatology Symposium Proceedings”

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR

April 2016 in “Journal of Investigative Dermatology”

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

research Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation

18 citations , January 2021 in “Theranostics”

The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.

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

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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 Clinical and molecular genetic studies in hereditary hair loss

August 2021

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

research Differential proteomics of lesional vs. non-lesional biopsies revealed non-immune mechanisms of alopecia areata

19 citations , January 2018 in “Scientific Reports”

Non-immune factors play a significant role in alopecia areata.

research Computational derivation of a molecular framework for hair follicle biology from disease genes

4 citations , November 2017 in “Scientific Reports”

The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.

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”

CD2 might be a new treatment target for patchy alopecia areata.

research The Genetics of Human Skin Disease

24 citations , October 2014 in “Cold Spring Harbor Perspectives in Medicine”

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

research Towards a molecular understanding of hair loss and its treatment

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

Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations , November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

research Gene Array Profiling and Immunomodulation Studies Define a Cell-Mediated Immune Response Underlying the Pathogenesis of Alopecia Areata in a Mouse Model and Humans

114 citations , August 2002 in “Journal of Investigative Dermatology”

Alopecia areata is caused by an immune response, and targeting immune cells might help treat it.

research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation

60 citations , July 2014 in “Autophagy”

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

research Cell death by cornification

375 citations , June 2013 in “Biochimica et biophysica acta. Molecular cell research”

Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.

research Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis

7 citations , August 2020 in “Genes”

Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.

research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation

1 citations , January 2014 in “International Journal of Trichology”

A patient with a rare hair condition and skin disorder showed hair improvement after treatment.

research Recently Identified Forms of Epidermolysis Bullosa

39 citations , January 2015 in “Annals of dermatology/Annals of Dermatology”

Three new types of a skin blistering disease were found, caused by specific gene mutations.

Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function

17 citations , February 2015 in “Cell Death and Disease”

Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.

research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

4 citations , October 2021 in “Journal of Clinical Medicine”

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.