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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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, but...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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 sinusitis...

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Investigation of HE4 expression concerning epithelial-mesenchymal transition (EMT) in cystic fibrosis epithelial cells.

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Related Experiment Video

Updated: Jun 1, 2026

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein
09:59

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein

Published on: March 9, 2015

Introduction to section III: biochemical methods to study CFTR protein.

Margarida D Amaral1, Gergely L Lukacs

  • 1Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal. mdamaral@fc.ul.pt

Methods in Molecular Biology (Clifton, N.J.)
|May 20, 2011
PubMed
Summary

This chapter details methods for studying the cystic fibrosis transmembrane conductance regulator (CFTR) protein in cystic fibrosis (CF). It provides an overview of protocols for detecting CFTR expression, localization, and interactions.

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Background:

  • Cystic Fibrosis (CF) is caused by mutations in the CFTR gene.
  • Understanding CFTR protein function is crucial for CF research and therapy development.

Discussion:

  • This section focuses on experimental protocols for analyzing the CFTR protein.
  • Methods cover detection of CFTR expression, localization within the cell, endocytic sorting, and metabolism (biogenesis and turnover).
  • Identification of CFTR interacting partners is also detailed.

Key Insights:

  • Provides a comprehensive overview of experimental workflows for CFTR analysis.
  • Explains the scientific rationale and applications for each protocol.
  • Cross-references protocols from other book sections for a holistic approach.

Outlook:

  • Facilitates standardized and reproducible research in CFTR studies.
  • Aims to advance the understanding of CF pathogenesis.
  • Supports the development of novel diagnostic and therapeutic strategies for CF.