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Related Concept Videos

Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Papillary Dermis01:11

Papillary Dermis

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Renewal of Skin Epidermal Stem Cells01:12

Renewal of Skin Epidermal Stem Cells

The skin is divided into epidermis, dermis, and hypodermis, the skin's outermost, middle, and inner layers. The human epidermal layer regularly undergoes renewal, where old, dead cells are replaced by new cells. Epidermal stem cells or EpiSCs divide and differentiate to restore the lost cells. For the renewal process, some EpiSCs continuously self-renew. In contrast, few others differentiate into transit-amplifying cells, which later form prickle or spinous cells, followed by granular cells,...
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...

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Related Experiment Video

Updated: May 29, 2026

Generation of Genetically Modified Organotypic Skin Cultures Using Devitalized Human Dermis
09:16

Generation of Genetically Modified Organotypic Skin Cultures Using Devitalized Human Dermis

Published on: December 14, 2015

Desmosomal genodermatoses.

G Petrof1, J E Mellerio, J A McGrath

  • 1St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK.

The British Journal of Dermatology
|September 21, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in desmosome genes cause genodermatoses affecting skin and hair. Understanding these genetic skin diseases aids patient management and reveals desmosome function.

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Area of Science:

  • Dermatology
  • Molecular Biology
  • Genetics

Background:

  • Desmosomes are crucial for cell adhesion, signaling, and tissue development, particularly in the skin.
  • Mutations in desmosomal genes lead to various genetic skin disorders (genodermatoses) affecting skin, hair, and heart.
  • These disorders result from pathogenic autosomal dominant or recessive mutations in desmosome components.

Purpose of the Study:

  • To review the molecular pathology of desmosomal genodermatoses.
  • To summarize the clinical phenotypes associated with desmosome gene mutations, focusing on skin and hair manifestations.
  • To highlight recent findings in desmosomal genodermatoses.

Main Methods:

  • Literature review of desmosomal genodermatoses.
  • Summary of reported molecular pathologies and clinical phenotypes.
  • Analysis of genotype-phenotype correlations.

Main Results:

  • Ten desmosomal genes have been linked to pathogenic mutations.
  • Genodermatoses present a spectrum of phenotypes affecting skin, hair, and heart.
  • Recent examples include lethal congenital epidermolysis bullosa, hypotrichosis with scalp vesicles, and generalized peeling skin disease.

Conclusions:

  • Understanding desmosome gene mutations and their associated phenotypes is vital for patient management and genetic counseling.
  • This knowledge provides insights into the biological roles of desmosome components in skin and other tissues.
  • Further research into desmosomal genodermatoses can improve diagnostic and therapeutic strategies.