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

Gap Junctions01:37

Gap Junctions

48.1K
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...
48.1K
Gap Junctions01:27

Gap Junctions

9.3K
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...
9.3K
Mutations01:35

Mutations

31.2K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
31.2K
Mutations01:39

Mutations

66.6K
Overview
66.6K
Mutations01:39

Mutations

11.0K
11.0K
Exon Recombination02:32

Exon Recombination

3.1K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.1K

You might also read

Related Articles

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

Sort by
Same author

Pannexin1-dependent and -independent protection by novel peptidomimetics against cardiac ischemia/reperfusion injury.

Scientific reports·2026
Same author

Genome-wide association study links COL6A6 and PIK3R4 to delayed cerebral ischaemia.

Brain : a journal of neurology·2026
Same author

Disentangling determinants of one-year modified Rankin scale in patients with incidentally detected solitary intracranial aneurysms.

Computers in biology and medicine·2026
Same author

Sex-Dependent Manifestations of Intracranial Aneurysms.

Stroke (Hoboken, N.J.)·2026
Same author

Left bundle branch pacing vs biventricular pacing: back to basics.

European heart journal·2026
Same author

Chemo-Enzymatic Route for Covalent Cellulose Fiber Dyeing.

Chemistry (Weinheim an der Bergstrasse, Germany)·2026

Related Experiment Video

Updated: Apr 27, 2026

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
10:46

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells

Published on: July 16, 2013

15.8K

Mutations in cardiovascular connexin genes.

Filippo Molica1, Merlijn J P Meens, Sandrine Morel

  • 1Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland; Department of Medical Specializations - Cardiology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Biology of the Cell
|June 27, 2014
PubMed
Summary

Connexins (Cxs) are vital proteins for cell communication and tissue health. This review details how mutations in cardiovascular connexins link to channel changes and various diseases.

Keywords:
ConnexinsGap junctionsGene mutationsGenetic diseases

More Related Videos

Perturbing Endothelial Biomechanics via Connexin 43 Structural Disruption
09:20

Perturbing Endothelial Biomechanics via Connexin 43 Structural Disruption

Published on: October 4, 2019

5.2K
An Iodide-Yellow Fluorescent Protein-Gap Junction-Intercellular Communication Assay
09:47

An Iodide-Yellow Fluorescent Protein-Gap Junction-Intercellular Communication Assay

Published on: February 1, 2019

6.7K

Related Experiment Videos

Last Updated: Apr 27, 2026

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
10:46

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells

Published on: July 16, 2013

15.8K
Perturbing Endothelial Biomechanics via Connexin 43 Structural Disruption
09:20

Perturbing Endothelial Biomechanics via Connexin 43 Structural Disruption

Published on: October 4, 2019

5.2K
An Iodide-Yellow Fluorescent Protein-Gap Junction-Intercellular Communication Assay
09:47

An Iodide-Yellow Fluorescent Protein-Gap Junction-Intercellular Communication Assay

Published on: February 1, 2019

6.7K

Area of Science:

  • Molecular Biology
  • Cell Biology
  • Genetics

Background:

  • Connexins (Cxs) are transmembrane proteins crucial for intercellular communication via gap junctions.
  • They regulate ion and metabolite passage, maintaining tissue homeostasis.
  • Specific connexins (Cx37, Cx40, Cx43, Cx45, Cx47) are expressed in cardiovascular and lymphatic systems.

Purpose of the Study:

  • To systematically review gene mutations in cardiovascular connexins.
  • To correlate these mutations with altered channel properties.
  • To link connexin gene alterations to specific diseases.

Main Methods:

  • Literature review of studies on connexin gene mutations.
  • Analysis of reported channel biophysical properties.
  • Correlation of genetic findings with clinical disease phenotypes.

Main Results:

  • Mutations in Cx43 are linked to oculodentodigital dysplasia.
  • Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease and lymphoedema.
  • Cx40 mutations are primarily linked to atrial fibrillation.
  • Cx37 gene polymorphisms are implicated in arterial disease development.

Conclusions:

  • Cardiovascular connexin gene mutations and polymorphisms significantly impact channel function.
  • These alterations are associated with a spectrum of diseases, including cardiovascular and developmental disorders.
  • Understanding these links is crucial for diagnosing and potentially treating related pathologies.