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Related Concept Videos

Introduction to Connective Tissues01:11

Introduction to Connective Tissues

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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,...
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Connective Tissue Cell Types01:22

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Connective tissue develops from the mesoderm of a developing embryo and consists of cells, fibers, and ground substance: a gel-like material containing large complexes of carbohydrates and proteins. Connective tissue was first identified as a separate tissue family in the 18th century, and Johannes Peter Muller coined the term connective tissue.
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Desmosomes01:05

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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...
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Actin is a family of globular proteins that are highly abundant in eukaryotic cells. It makes up approximately 1-5% of total cell protein concentration. Actin monomers polymerize to form a complex network of polarized filaments, the actin cytoskeleton, that plays a crucial role in many cellular processes, including cell motility, division, endocytosis, and metastasis of cancer cells.
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The adherens junctions that anchor cells together are multi-protein complexes that dynamically adapt to mechanical stimuli such as tensile forces and shear stress. Mechanosensory proteins in these junctions can sense such mechanical stimuli and undergo a shift in their conformation, resulting in an altered function — a process called mechanotransduction.
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Integrins act both as extracellular input receivers and as intracellular processing activators. As their name suggests, integrins are entirely integrated into the membrane structure. Their hydrophobic membrane-spanning regions interact with the phospholipid bilayer's hydrophobic region. These membrane receptors provide extracellular attachment sites for effectors like hormones and growth factors. They activate intracellular response cascades when their effectors are bound and active.
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Updated: Apr 2, 2026

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
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ADAMTS and ADAMTSL mutations in connective tissue disorders.

Ana D Alcocer1, Elizabeth H Rush1,2, Timothy J Mead1,2,3

  • 1Department of Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Physiology (Bethesda, Md.)
|March 31, 2026
PubMed
Summary
This summary is machine-generated.

Mutations in ADAMTS family genes disrupt the extracellular matrix (ECM), causing various connective tissue disorders. This review details the distinct clinical features and underlying mechanisms of these ECM-related genetic disorders.

Keywords:
ADAMTSADAMTSLclinical characteristicsconnective tissue disordersextracellular matrix

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • The ADAMTS family comprises extracellular matrix (ECM) proteins and enzymes crucial for tissue structure and function.
  • The ECM network provides cellular support and maintains tissue integrity.
  • Mutations in ECM proteins disrupt structural integrity, leading to systemic connective tissue disorders with diverse abnormalities.

Purpose of the Study:

  • To review and detail the distinct clinical features of major connective tissue disorders caused by mutations in ADAMTS family proteins.
  • To elucidate the mechanisms by which ADAMTS gene mutations impair ECM structure and lead to varied phenotypic outcomes.

Main Methods:

  • Literature review of studies on ADAMTS family genes and associated connective tissue disorders.
  • Analysis of clinical characteristics and genetic mutations.
  • Examination of ECM structure impairment mechanisms.

Main Results:

  • Mutations in ADAMTS2 cause Ehlers Danlos syndrome.
  • ADAMTSL2 mutations lead to Geleophysic Dysplasia.
  • Weill-Marchesani Syndrome is linked to ADAMTS10 and ADAMTS17 mutations.
  • ADAMTSL4 mutations are associated with Ectopia lentis.
  • Thoracic aortic aneurysms and dissection result from ADAMTSL6 mutations.
  • Valvular disease is observed in ADAMTS19 mutations.
  • ADAMTS6 mutations cause another connective tissue disorder.

Conclusions:

  • ADAMTS gene mutations significantly impact ECM integrity, resulting in a spectrum of connective tissue disorders.
  • Understanding these genotype-phenotype correlations is vital for diagnosis and management of these conditions.