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 Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

4.2K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
4.2K
Genetic Lingo01:11

Genetic Lingo

118.8K
Overview
118.8K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

11.2K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
11.2K
Pleiotropy01:33

Pleiotropy

44.3K
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,...
44.3K
Epistasis01:39

Epistasis

51.6K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
51.6K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

5.0K
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,...
5.0K

You might also read

Related Articles

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

Sort by
Same author

Clarifying Frizzled 2 function in development through genetically validated mouse models.

Disease models & mechanisms·2026
Same author

Loss of ZNRF3/RNF43 unleashes EGFR in cancer.

eLife·2026
Same author

The class A repeats of LRP5 are required for normal development of bone, retinal vasculature and mammary gland in vivo.

Disease models & mechanisms·2025
Same author

Androgen receptor splice variants drive castration-resistant prostate cancer metastasis by activating distinct transcriptional programs.

The Journal of clinical investigation·2024
Same author

Loss of ZNRF3/RNF43 Unleashes EGFR in Cancer.

bioRxiv : the preprint server for biology·2024
Same author

β-catenin-dependent High Bone Mass Induced by Loss of APC in Osteoblasts Does Not Require Lrp5 or Lrp6.

microPublication biology·2023

Related Experiment Video

Updated: Apr 15, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
13:26

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography

Published on: August 11, 2016

12.8K

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.

Jacqueline D Peacock1, Karl J Dykema1, Helga V Toriello2

  • 1Van Andel Research Institute, Grand Rapids, Michigan.

American Journal of Medical Genetics. Part A
|March 27, 2015
PubMed
Summary

Oculoectodermal syndrome (OES) is a rare mosaic RASopathy linked to KRAS gene alterations. This study identifies specific KRAS mutations, broadening understanding of OES and RASopathies.

Keywords:
RAS/MAPK pathwayRASopathymosaicismoculoectodermal syndrome

More Related Videos

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
07:23

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Published on: August 6, 2021

3.4K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.7K

Related Experiment Videos

Last Updated: Apr 15, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
13:26

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography

Published on: August 11, 2016

12.8K
Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
07:23

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Published on: August 6, 2021

3.4K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.7K

Area of Science:

  • Genetics
  • Oncology
  • Dermatology

Background:

  • Oculoectodermal syndrome (OES) is a rare genetic disorder.
  • OES is characterized by congenital scalp lesions, ocular dermoids, and benign tumors.

Observation:

  • Whole-genome sequencing identified somatic KRAS mutations in OES patients.
  • Specific KRAS alterations (p.Gly13Asp, p.Leu19Phe) were found in affected tissues.
  • Low allelic frequencies suggest mosaicism in OES.

Findings:

  • OES is a mosaic RAS-related disorder (RASopathy) caused by KRAS alterations.
  • The findings expand the known phenotypic spectrum of KRAS mutations.
  • OES shares features with other mosaic and germline RASopathies.

Implications:

  • KRAS sequencing can improve OES diagnosis.
  • Further research on malignancy risk and targeted therapies for OES is recommended.
  • This discovery advances understanding of RASopathies and KRAS-related disorders.