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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

1.1K
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,...
1.1K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

642
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
642
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

5.2K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
5.2K
Chronic Obstructive Pulmonary Disease-I: Introduction01:20

Chronic Obstructive Pulmonary Disease-I: Introduction

4.2K
Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
4.2K
Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

950
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
950
Pulmonary Tuberculosis II01:28

Pulmonary Tuberculosis II

2.4K
Tuberculosis, or TB, is a bacterial infectious disease caused by Mycobacterium tuberculosis. While its primary impact is on the lungs, leading to pulmonary tuberculosis, it can also affect various other organs, a condition referred to as extrapulmonary tuberculosis.
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
2.4K

You might also read

Related Articles

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

Sort by
Same author

Phenotype-specific muscle proteomic profiling in titinopathies.

Acta neuropathologica communications·2026
Same author

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

European journal of human genetics : EJHG·2026
Same author

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Annales d'endocrinologie·2026
Same author

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Annales d'endocrinologie·2026
Same author

DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis.

Clinical epigenetics·2025
Same author

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Genetics in medicine : official journal of the American College of Medical Genetics·2025

Related Experiment Video

Updated: Apr 15, 2026

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
08:58

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

Published on: April 18, 2025

1.2K

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Anne Bergougnoux1, Victoria Viart1, Julie Miro2

  • 1Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier F-34093, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|March 24, 2015
PubMed
Summary

Idiopathic diffuse bronchiectasis (DB) is not a classic cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder. New "Non-Neutral Variants" may impact lung disease, requiring further study.

Keywords:
CFTR geneDiffuse bronchiectasisFunctional analysisVariants classification

More Related Videos

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

11.2K
Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae

Published on: May 10, 2014

15.1K

Related Experiment Videos

Last Updated: Apr 15, 2026

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
08:58

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

Published on: April 18, 2025

1.2K
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

11.2K
Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae

Published on: May 10, 2014

15.1K

Area of Science:

  • Genetics
  • Pulmonology
  • Molecular Biology

Background:

  • The role of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in idiopathic diffuse bronchiectasis (DB) is debated.
  • Previous studies offer comprehensive evaluations but lack definitive conclusions.

Purpose of the Study:

  • To investigate the association between CFTR gene variants and idiopathic diffuse bronchiectasis (DB).
  • To functionally assess unclassified CFTR variants.
  • To explore potential genotype-phenotype correlations in DB patients.

Main Methods:

  • Analysis of the entire coding region, flanking regions, and promoter of the CFTR gene in 47 DB patients and 47 controls.
  • Collection of demographic, spirometric, radiological, and microbiological data for DB patients.
  • In vitro functional assessment of unclassified CFTR variants.

Main Results:

  • CFTR variants were found in both DB patients (24) and controls (27).
  • Variants were reclassified using in silico predictions, in vitro assays, and epidemiological data.
  • No significant genotype-phenotype correlation was observed, except for sweat test values.

Conclusions:

  • Diffuse bronchiectasis (DB) should not be classified as a typical autosomal recessive CFTR-related disorder (CFTR-RD).
  • A novel class of "Non-Neutral Variants" is proposed, warranting further research into their impact on lung disease.