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

[Beckwith-Wiedemann syndrome].

K Yoshiura1, N Niikawa

  • 1Nagasaki University School of Medicine, Department of Human Genetics.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|August 2, 2000
PubMed
Summary

Beckwith-Wiedemann syndrome (BWS) is a common overgrowth disorder linked to imprinted genes. Tumors occur in BWS patients, suggesting it may be a familial cancer syndrome, with research exploring its causes and cancer links.

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

Multifaceted array-based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions.

Clinical and experimental dermatology·2021
Same author

Utility of a diffusion kurtosis model in the differential diagnosis of orofacial tumours.

Clinical radiology·2020
Same author

Dynamic contrast-enhanced MRI of oral squamous cell carcinoma: a preliminary study of the correlations between quantitative parameters and the clinical stage.

The British journal of radiology·2015
Same author

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Clinical genetics·2015
Same author

Clinical applications of analysis of plasma circulating complete hydatidiform mole pregnancy-associated miRNAs in gestational trophoblastic neoplasia: a preliminary investigation.

Placenta·2014
Same author

Circulating levels of maternal plasma cell-free pregnancy-associated placenta-specific microRNAs are associated with placental weight.

Placenta·2014

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Context:

  • Beckwith-Wiedemann syndrome (BWS) is a prevalent imprinting disorder.
  • Imprinted genes are implicated in BWS phenotypes.
  • Embryonic tumors are a significant concern in BWS, occurring in 7.5%-10.0% of cases.

Purpose:

  • To elucidate the causative mechanisms of Beckwith-Wiedemann syndrome.
  • To detail the mechanisms of tumorigenesis associated with BWS.
  • To identify future research directions for BWS and associated cancers.

Summary:

  • BWS is caused by disruptions in genomic imprinting.
  • Altered gene expression in BWS contributes to overgrowth and increased cancer risk.
  • Understanding these mechanisms is crucial for diagnosis and management.

Impact:

  • Provides insights into the genetic basis of overgrowth syndromes.
  • Highlights BWS as a potential familial cancer syndrome.
  • Guides future research into BWS pathogenesis and cancer prevention strategies.

Related Experiment Videos