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 Experiment Videos

Excision repair defect in Rothmund Thomson syndrome.

F Vasseur1, E Delaporte, M T Zabot

  • 1Department of Genetics of Multifactorial Diseases, CHRU, Lille, France.

Acta Dermato-Venereologica
|May 6, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Mucocutaneous manifestations of inflammatory bowel disease.

Annales de dermatologie et de venereologie·2024
Same author

[High anti-topoisomerase-1 autoantibodies levels are associated with the extension of skin fibrosis and vascular progression in patients with systemic sclerosis].

La Revue de medecine interne·2024
Same author

Appearance of lentigines in an atopic dermatitis patient treated with dupilumab.

Journal of the European Academy of Dermatology and Venereology : JEADV·2023
Same author

Predictors of initial incomplete resection of basal cell carcinoma of the face and neck.

Annales de dermatologie et de venereologie·2023
Same author

First report of cryptococcosis due to Cryptococcus gattii sensu stricto VGI in an Ivorian HIV negative patient.

Journal de mycologie medicale·2021
Same author

[Localised pretibial pemphigoid secondary to skin haematoma].

Annales de dermatologie et de venereologie·2020

Rothmund-Thomson syndrome patients show reduced DNA repair capacity. This defect may explain their sensitivity to sunlight and increased cancer risk.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Rothmund-Thomson syndrome is a rare autosomal recessive disorder.
  • Key features include poikiloderma, skeletal abnormalities, and early-onset malignancies.

Observation:

  • Two patients with Rothmund-Thomson syndrome were studied.
  • Their blood cells' DNA repair capabilities after UVC radiation exposure were assessed in vitro.

Findings:

  • Both patients exhibited decreased DNA excision repair.
  • This was measured using unscheduled DNA synthesis following UVC exposure.

Implications:

  • The DNA repair defect may underlie the photosensitivity seen in patients.
  • This finding could explain the elevated cancer risk associated with Rothmund-Thomson syndrome.

Related Experiment Videos