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

3.2K
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...
3.2K
Epistasis Analysis01:09

Epistasis Analysis

5.6K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.6K
Lethal Alleles02:41

Lethal Alleles

17.6K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.6K
Epistasis01:39

Epistasis

49.9K
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...
49.9K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

8.5K
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,...
8.5K
Genetic Lingo01:11

Genetic Lingo

113.3K
Overview
113.3K

You might also read

Related Articles

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

Sort by
Same author

A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.

Frontiers in genetics·2026
Same author

<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.

Molecular genetics and metabolism reports·2026
Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026
Same author

Dyadic adjustment and quality of life in albinism:a pilot study on their shared lived experiences with their loved ones.

Presse medicale (Paris, France : 1983)·2026
Same author

Genomic analysis of putative hybrids between Potamochoerus spp. and domestic pigs from sympatric areas in West Africa and Madagascar.

PloS one·2026
Same author

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

HGG advances·2026

Related Experiment Video

Updated: Jan 1, 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

12.6K

Albinism: An Underdiagnosed Condition

Benoit Arveiler1, Vincent Michaud2, Eulalie Lasseaux2

  • 1Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.

The Journal of Investigative Dermatology
|December 30, 2019
PubMed
Summary

No abstract available in PubMed .

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

3.1K
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

16.3K

Related Experiment Videos

Last Updated: Jan 1, 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

12.6K
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

3.1K
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

16.3K