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Related Concept Videos

Gap Junctions01:37

Gap Junctions

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Multicellular organisms employ a variety of ways for cells to communicate with each other. Gap junctions are specialized proteins that form pores between neighboring cells in animals, connecting the cytoplasm between the two, and allowing for the exchange of molecules and ions. They are found in a wide range of invertebrate and vertebrate species, mediate numerous functions including cell differentiation and development, and are associated with numerous human diseases, including cardiac and...
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Gap Junctions01:27

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The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
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Tight Junctions01:29

Tight Junctions

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Tight junctions are molecular seals between cells that prevent the leaking of fluids, ions, and other small solutes across cavities and compartments in multicellular organisms. They are mainly composed of claudin and occludin transmembrane proteins, and other proteins such as tricellulin and JAM (junctional adhesion molecule). All these proteins are 4-pass transmembrane proteins, except JAM, which is a single-pass transmembrane protein belonging to the immunoglobulin superfamily. The...
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Cohesins02:20

Cohesins

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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...
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Cystic Fibrosis: Pathogenesis01:23

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Related Experiment Video

Updated: Mar 3, 2026

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
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Human diseases associated with connexin mutations.

Miduturu Srinivas1, Vytas K Verselis2, Thomas W White3

  • 1Department of Biological and Vision Sciences, SUNY College of Optometry, New York, NY 10036, USA.

Biochimica Et Biophysica Acta. Biomembranes
|May 2, 2017
PubMed
Summary

Connexin mutations cause genetic disorders affecting cellular processes. Understanding these connexin channel defects is key to developing new therapies for related diseases.

Keywords:
ConnexinGap junctionGenetic diseaseHemichannelMutation

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Area of Science:

  • Cellular Biology
  • Molecular Medicine
  • Genetics

Background:

  • Gap junctions and hemichannels, formed by connexins, regulate crucial cellular functions.
  • Genetic mutations in connexins lead to various inherited disorders.
  • Connexin disorders exhibit non-compensatory and dominant-negative effects from mutated connexins.

Purpose of the Study:

  • To elucidate the functional roles of connexins in cellular processes.
  • To understand the mechanisms underlying connexin-related genetic diseases.
  • To identify potential therapeutic targets for connexin disorders.

Main Methods:

  • Review of existing literature on connexin function and mutations.
  • Analysis of genetic and functional studies of connexin disorders.
  • Exploration of cellular mechanisms affected by connexin channel dysfunction.

Main Results:

  • Connexin mutations disrupt normal cellular communication and function.
  • Mutated connexins interfere with wild-type connexin activity, hindering compensation.
  • Functional studies are revealing specific molecular mechanisms of disease contribution.

Conclusions:

  • Detailed understanding of connexin channel dysfunction is essential for disease pathology.
  • Mechanistic insights can drive the development of novel, pathophysiology-based therapies.
  • Targeting connexin channel mechanisms offers promise for treating diverse genetic disorders.