Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Cystic Fibrosis: Pathogenesis

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...

You might also read

Related Articles

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

Sort by

Same author

[Screening of children residing in the same household as patients with contagious tuberculosis].

Revue des maladies respiratoires·2026

Same author

[Comprehensiveness of LTBI treatment in individuals under 18 years old].

Revue des maladies respiratoires·2025

Same author

[Travel to South Africa by a patient on anti-TNF: Could tuberculosis have been prevented?]

Revue des maladies respiratoires·2025

Same author

[Ruxolitinib, disseminated tuberculosis and primary myelofibrosis: A case study].

Revue des maladies respiratoires·2025

Same author

[When tuberculosis makes you deaf].

Revue des maladies respiratoires·2025

Same author

[An impressive chest swelling].

Revue des maladies respiratoires·2024

Search research articles

Related Experiment Video

Updated: Jul 16, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Turcot syndrome confirmed with molecular analysis.

C Lebrun¹, S Olschwang, S Jeannin

¹Service de Neurologie, Hôpital Pasteur, Nice, France. lebrun.c@chu-nice.fr

European Journal of Neurology

|March 29, 2007

Summary

Turcot syndrome, a rare genetic disorder, involves brain and colorectal tumors. This study identifies new germline mutations in MLH1 and MSH2 genes, aiding in diagnosis and patient care.

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

Related Experiment Videos

Last Updated: Jul 16, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Turcot syndrome is a rare hereditary cancer predisposition syndrome.
It is characterized by the co-occurrence of primary brain tumors and colorectal tumors.
Germline mutations in APC, MLH1, MHS6, and PMS2 genes have been previously associated with Turcot syndrome.

Observation:

This study reports on two new families diagnosed with Turcot syndrome.
Molecular analysis identified novel germline mutations.
One identified mutation in the MSH2 gene is previously undescribed in the literature.

Findings:

Two new families with Turcot syndrome were identified and characterized.
Germline mutations in the MLH1 and MSH2 genes were detected in these families.
A novel germline mutation in the MSH2 gene was discovered.

Implications:

Early diagnosis of Turcot syndrome can be facilitated by considering personal and familial glioma history.
Molecular characterization is crucial for appropriate patient management and genetic counseling.
Identification of new mutations expands the understanding of the genetic basis of Turcot syndrome and aids in carrier screening.