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Related Concept Videos

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...
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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...
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Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Cross-bridge Cycle01:26

Cross-bridge Cycle

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Related Experiment Video

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Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

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Published on: September 29, 2014

Epidermolysis bullosa simplex with muscular dystrophy.

C Chiavérini1, A Charlesworth, G Meneguzzi

  • 1French Reference Center of Hereditary Epidermolysis Bullosa, Nice, France. Chiaverini.c@chu-nice.fr

Dermatologic Clinics
|May 8, 2010
PubMed
Summary

Epidermolysis bullosa simplex (EBS) is an inherited skin disease causing skin separation. Genetic defects in keratins or plectin cause EBS, impacting keratin organization and cell integrity.

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Area of Science:

  • Dermatology
  • Genetics
  • Cell Biology

Background:

  • Epidermolysis bullosa simplex (EBS) is an inherited skin disorder.
  • Characterized by intraepidermal blistering within the basal cell layer.
  • Major subtypes are linked to dominant inheritance and keratin K5/K14 gene defects.

Purpose of the Study:

  • To review current knowledge on Epidermolysis bullosa simplex.
  • To discuss genetic underpinnings of EBS subtypes.
  • To highlight associations between PLEC mutations and EBS variants.

Main Methods:

  • Literature review of Epidermolysis bullosa simplex.
  • Analysis of genetic defects in keratin K5 and K14.
  • Examination of PLEC gene mutations in EBS.

Main Results:

  • Dominant EBS subtypes result from keratin defects, disrupting keratin network organization.
  • Autosomal recessive EBS with extracutaneous manifestations linked to PLEC mutations.
  • PLEC mutations also identified in the dominant Ogna form of EBS.

Conclusions:

  • Genetic mutations in keratins and plectin are key to EBS pathogenesis.
  • Understanding these genetic links is crucial for diagnosing and potentially treating EBS.
  • Further research into PLEC's role may reveal new therapeutic avenues for EBS.