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Related Concept Videos

Structural Protein Function01:56

Structural Protein Function

Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to form...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Introduction to Connective Tissues01:11

Introduction to Connective Tissues

Connective tissues are one of the four main tissue types in humans that are extensively present in the body. They are characterized by cells embedded in an extracellular matrix (ECM) composed of a ground substance and three main types of protein fibers— collagen, elastic, and reticular fibers. The ground substance of connective tissues can range from a watery and jelly-like consistency to mineralized and hard. The wide variety of cells in the connective tissues include fibroblasts, osteocytes,...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
The Functions of the Skeletal System01:22

The Functions of the Skeletal System

The most apparent functions of the skeletal system are support, protection, and movement. However, bone tissue also performs several other critical metabolic functions. For one, the bone matrix acts as a reservoir for a number of minerals important to the functioning of the body, especially calcium and phosphorus. These minerals, present in the bone tissue, can be released back into the bloodstream when required. Calcium ions, for example, are essential for muscle contractions and controlling...
Mutations01:39

Mutations

Overview

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Related Experiment Video

Updated: May 11, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Skeletal diseases caused by mutations that affect collagen structure and function.

William V Arnold1, Andrzej Fertala

  • 1Department of Orthopaedic Surgery, Rothman Institute, Thomas Jefferson University, Philadelphia, PA 19107, USA.

The International Journal of Biochemistry & Cell Biology
|May 28, 2013
PubMed
Summary
This summary is machine-generated.

Mutations affecting collagen structure cause skeletal diseases. This review details molecular mechanisms and therapeutic strategies for collagen-related skeletal abnormalities.

Keywords:
BoneCartilageCollagenER stressHeritable diseases

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Related Experiment Videos

Last Updated: May 11, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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Area of Science:

  • Biochemistry and Molecular Biology
  • Skeletal Biology
  • Genetics

Background:

  • Collagens are crucial for skeletal tissue mechanical strength and cell binding in bone and cartilage.
  • Collagen formation involves complex intracellular and extracellular processes.
  • Genetic mutations in collagen or associated proteins lead to heritable skeletal diseases.

Purpose of the Study:

  • To review the pathomechanisms of molecular and cellular consequences of mutations affecting collagen structure and function.
  • To discuss therapeutic approaches for collagen-related skeletal disorders.

Main Methods:

  • Literature review of genetic mutations impacting collagen.
  • Analysis of molecular and cellular consequences of these mutations.
  • Evaluation of current and future therapeutic strategies.

Main Results:

  • Mutations in collagen genes and associated modification proteins cause skeletal abnormalities.
  • Understanding these mutations reveals critical molecular and cellular pathways.
  • Therapeutic interventions aim to mitigate the effects of these genetic alterations.

Conclusions:

  • Collagen defects are a significant cause of skeletal diseases.
  • Further research into pathomechanisms can guide the development of effective treatments.
  • Targeting collagen structure and function offers potential therapeutic avenues for skeletal disorders.