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GlossaryDesmoplakin

protein essential for cell adhesion in skin and heart tissues

Desmoplakin is a protein crucial for the structural integrity of cells, particularly in tissues that experience mechanical stress, like the skin and heart. It is a key component of desmosomes, which are specialized cell structures that anchor cells together. Mutations in the DSP gene, which encodes desmoplakin, can lead to conditions such as arrhythmogenic right ventricular cardiomyopathy and certain skin disorders.

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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.

research Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations

1 citations , August 2019 in “Pediatric dermatology”

Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.

research Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair

46 citations , June 2013 in “Journal of structural biology”

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.

research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

11 citations , December 2013 in “Clinical and experimental dermatology”

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

5 citations , May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

research Effects of a complex mixture prepared from agrimonia, houttuynia, licorice, peony, and phellodendron on human skin cells

4 citations , December 2020 in “Scientific Reports”

The plant extract mixture improves skin health by reducing inflammation, boosting collagen, and supporting anti-aging.

research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

2 citations , July 2015 in “Archives of Dermatological Research”

A new gene variant in the DSP gene is linked to a unique type of hair loss.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research Novel insights into cardiocutaneous syndromes

May 2022

Understanding genetics is crucial for treating heart and skin diseases.

Three-Dimensional Imaging of Tight Junction Network Across Multiple Layers of Human Epidermis by Array Tomography Using Backscattered Electron-Mode Scanning Electron Microscopy

research LB1081 Three-dimensional imaging of tight junction-network across multiple layers of human epidermis by array tomography using backscattered electron-mode scanning electron microscopy

August 2019 in “Journal of Investigative Dermatology”

The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.

research LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development

August 2019 in “Journal of Investigative Dermatology”

Frog skin cells need the protein desmoplakin for proper development and cell layer formation.

research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO

January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)”

Desmosomes are crucial for skin and heart development, and JNK may help regulate them.

research PA05 A rare case of cardiocutaneous syndrome in a young child

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

research A Pedunculated Follicular Hamartoma: A Case Showing a Central Trichofolliculoma‐like Tumor with Multiple Trichogenic Tumors

4 citations , August 1991 in “The Journal of Dermatology”

The tumor on the man's nose was a rare type called pedunculated follicular hamartoma.

research Intercellular junctions in normal epidermis

2 citations , September 2004 in “Experimental Dermatology”

Desmosomal adhesion is essential for healthy skin structure and function.

research 876 Imaging nanoscale changes in desmosome protein organization

April 2018 in “Journal of Investigative Dermatology”

Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.

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 Hair loss after terbinafine treatment

3 citations , July 2008 in “British journal of dermatology/British journal of dermatology, Supplement”

Terbinafine can cause hair loss.

research Oral cyclosporin does not arrest progression of androgenetic alopecia

July 2008 in “British Journal of Dermatology”

Cyclosporin doesn't stop hair loss.

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 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation

April 2018 in “Journal of Investigative Dermatology”

Dsg1 is essential for maintaining a healthy skin barrier in mice.

research Dysfunction of keratinocyte adhesion

2 citations , September 2004 in “Experimental Dermatology”

Keratinocyte adhesion problems can cause skin and hair disorders.

research 320 Desmoglein 3-mediated mechanical transadhesion controls epithelial stem cell quiescence

October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.

research Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells.

96 citations , September 1996 in “PubMed”

Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.

RPGRIP1L Facilitates Desmosomal Adhesion Through Suppressing PKCβII-Mediated Desmoglein Endocytosis: Implication in Pemphigus

research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus

April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

Uncoupling Desmosomal Cadherin Adhesion Activates Quiescent Hair Follicle Stem Cells and Orchestrates Self-Organized Regeneration Through Outside-In Signaling

research 1422 Uncoupling desmosomal cadherin adhesion activates quiescent hair follicle stem cells and orchestrates self-organized regeneration through outside-in signaling

April 2023 in “Journal of Investigative Dermatology”

Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.

research 피부 발육과정에서 데스모콜린 1의 발현에 관한 면역조직화학적 연구

September 2012 in “대한피부과학회지”

Desmocollin 1 helps maintain skin structure during fetal development.

A Desmosomal Cadherin Controls Multipotent Hair Follicle Stem Cell Quiescence and Orchestrates Regeneration Through Adhesion Signaling

research A desmosomal cadherin controls multipotent hair follicle stem cell quiescence and orchestrates regeneration through adhesion signaling

1 citations , November 2023 in “iScience”

A protein called desmoglein 3 is important for keeping hair follicle stem cells inactive and helps in their regeneration.

research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses

83 citations , May 2011 in “European Journal of Dermatology”

Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.

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.