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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
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Updated: Jun 22, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Beckwith-Wiedemann syndrome.

Rosanna Weksberg1, Cheryl Shuman, J Bruce Beckwith

  • 1Department of Genetics and Genome Biology, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario M5G 1X8, Canada. rweksb@sickkids.ca

European Journal of Human Genetics : EJHG
|June 25, 2009
PubMed
Summary

Beckwith-Wiedemann syndrome serves as a key model for studying imprinting and growth disorders. Research highlights its connection to embryonic development, twinning, and epigenetic errors, particularly after assisted reproduction.

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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

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Area of Science:

  • Genetics
  • Developmental Biology
  • Reproductive Medicine

Background:

  • Beckwith-Wiedemann syndrome (BWS) is a crucial human imprinting disorder.
  • It provides insights into growth dysregulation and cancer development.
  • Unique BWS features offer clues about embryonic development.

Purpose of the Study:

  • To explore the role of BWS in understanding imprinting mechanisms.
  • To investigate the link between BWS, embryonic development, and twinning.
  • To examine the association between BWS, assisted reproduction, and epigenetic errors.

Main Methods:

  • Observational analysis of BWS cases.
  • Review of literature on imprinting disorders.
  • Comparative study of twinning rates and epigenetic errors in relation to BWS and assisted reproduction.

Main Results:

  • BWS is a valuable model for imprinting research.
  • Specific BWS observations indicate a critical embryonic developmental window.
  • An increased incidence of monozygotic twinning and epigenetic errors is noted after assisted reproduction in BWS contexts.

Conclusions:

  • Beckwith-Wiedemann syndrome is instrumental in studying imprinting, growth, and cancer.
  • The syndrome highlights a significant embryonic developmental period.
  • Assisted reproduction may be associated with increased twinning and epigenetic errors in BWS patients.