Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Desmosomes01:05

Desmosomes

9.0K
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...
9.0K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

643
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
643
Members Made of Elastoplastic Material01:19

Members Made of Elastoplastic Material

467
The behavior of elastoplastic materials under bending stresses, particularly in structural members with rectangular cross-sections, is crucial for predicting material responses and understanding failure modes. Initially, when a bending moment is applied, the stress distribution across the section follows Hooke's Law and is linear and elastic. This distribution means the stress increases from the neutral axis to the maximum at the outer fibers, up to the elastic limit.
As the bending moment...
467
Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

3.4K
Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
3.4K
Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

3.3K
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
3.3K
Extracellular Matrix01:26

Extracellular Matrix

6.4K
Unlike epithelial tissue, which is composed of cells closely packed with little or no extracellular space in between, connective tissue cells are dispersed in a matrix. This extracellular matrix (ECM) is composed of fibrous proteins like collagen, elastin, and fibronectin in a ground substance consisting of interstitial fluid, cell adhesion proteins, and proteoglycans. The proteoglycans form a gel-like material in the spaces between cells and provide hydration, buffering, binding, and force...
6.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study.

Orphanet journal of rare diseases·2025
Same author

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal of inherited metabolic disease·2025
Same author

Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.

Molecular genetics and metabolism·2024
Same author

Relationship between <i>MAN2B1</i> genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.

JIMD reports·2023
Same author

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Journal of inherited metabolic disease·2023
Same author

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.

European journal of medical genetics·2023

Related Experiment Video

Updated: Mar 21, 2026

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology
16:46

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology

Published on: June 3, 2014

12.3K

[Ehlers-Danlos syndrome].

Julie Leganger1, Marie-Louise Kulas Søborg, Stense Farholt

  • 1julieleganger@gmail.com.

Ugeskrift for Laeger
|May 4, 2016
PubMed
Summary

Ehlers-Danlos syndrome (EDS) is a rare genetic connective tissue disorder. This article reviews EDS symptoms, diagnosis, and treatment, emphasizing early referral to specialized centers for better patient outcomes.

Area of Science:

  • Genetics
  • Rheumatology
  • Dermatology

Background:

  • Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders.
  • Characterized by generalized tissue fragility affecting skin, joints, blood vessels, and organs.
  • EDS presents with significant clinical heterogeneity, complicating diagnosis.

Purpose of the Study:

  • To provide a comprehensive overview of Ehlers-Danlos syndrome clinical manifestations.
  • To offer updated recommendations for the diagnosis and management of EDS.
  • To highlight the importance of timely referral for rare disease patients.

Main Methods:

  • Literature review of EDS clinical features.
  • Synthesis of current diagnostic criteria for EDS subtypes.

More Related Videos

Fibroblast Derived Human Engineered Connective Tissue for Screening Applications
09:50

Fibroblast Derived Human Engineered Connective Tissue for Screening Applications

Published on: August 20, 2021

4.1K
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

21.0K

Related Experiment Videos

Last Updated: Mar 21, 2026

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology
16:46

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology

Published on: June 3, 2014

12.3K
Fibroblast Derived Human Engineered Connective Tissue for Screening Applications
09:50

Fibroblast Derived Human Engineered Connective Tissue for Screening Applications

Published on: August 20, 2021

4.1K
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

21.0K
  • Compilation of evidence-based treatment guidelines.
  • Main Results:

    • Detailed description of EDS-related symptoms across various systems.
    • Discussion of diagnostic challenges including variability and physician awareness.
    • Outline of management strategies and therapeutic approaches.

    Conclusions:

    • Accurate diagnosis of EDS requires awareness of its diverse presentation.
    • Multidisciplinary management is crucial for patients with Ehlers-Danlos syndrome.
    • Referral to national rare disease centers improves care and outcomes for EDS patients.