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

Genetic Lingo01:11

Genetic Lingo

Overview
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

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, whereas...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

You might also read

Related Articles

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

Sort by
Same author

Dynamic remodeling of USP28 by the selective inhibitor CAS-010: Insights from DFT and molecular dynamics simulations.

Journal of molecular graphics & modelling·2026
Same author

Alternol-Induced Oxidative Modification of SQSTM1/p62 Is Associated with Nrf2 Signaling and Autophagy-Related Responses in Prostate Cancer Cells.

Antioxidants (Basel, Switzerland)·2026
Same author

LPI alleviates Alzheimer's disease pathology via the GPR55 receptor.

Neuroscience·2026
Same author

Single-cell and spatial transcriptomic colocalization analysis reveals the roles of histone deacetylation in lung adenocarcinoma progression and microenvironment.

Translational research : the journal of laboratory and clinical medicine·2026
Same author

CXCL9/SPP1-polarized tumor-associated macrophages exert dual roles in regulating anti-tumor immunity in lung adenocarcinoma.

Cancer immunology, immunotherapy : CII·2026
Same author

Discovery of novel anaplastic lymphoma kinase inhibitors with enhanced binding interactions for non-small cell lung cancer via in silico approaches and retrospective experimental data support.

Journal of molecular graphics & modelling·2026
Same journal

Degeneration of Interpericyte Tunneling Nanotubes Can Occur in the Absence of Pericyte Loss in Diabetic Retina Disease.

Investigative ophthalmology & visual science·2026
Same journal

Unsupervised Clustering for POAG Phenotyping.

Investigative ophthalmology & visual science·2026
Same journal

Myd88 Deficiency Accelerates Retinal Degeneration and Alters Microglial Dynamics in a Mouse Model of Retinitis Pigmentosa.

Investigative ophthalmology & visual science·2026
Same journal

Sigma 1 Receptor Activation Coordinates Metabolic Stress Responses to Protect Retinal Vasculature in Ischemic Retinopathy.

Investigative ophthalmology & visual science·2026
Same journal

On the Misuse of Virus-Transformed Human Corneal Epithelial Cells as Surrogates for Normal Cells.

Investigative ophthalmology & visual science·2026
Same journal

Evaluating the Effect on Emmetropization of the Timing and Spectrum of Breaks From a Myopiagenic Environment.

Investigative ophthalmology & visual science·2026
See all related articles

Related Experiment Video

Updated: Jun 30, 2026

Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract
13:56

Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract

Published on: November 28, 2012

Human Crystallin Variation and Cataract.

Minjun Ma1, Xiaokun Zhang2, Yirong Li2

  • 1Department of Ophthalmology, the Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, People's Republic of China.

Investigative Ophthalmology & Visual Science
|June 29, 2026
PubMed
Summary
This summary is machine-generated.

Childhood cataracts, a major cause of reversible blindness, stem from mutations in crystallin genes. Understanding these genetic variations and applying artificial intelligence can improve diagnosis and treatment of lens opacification.

Related Experiment Videos

Last Updated: Jun 30, 2026

Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract
13:56

Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract

Published on: November 28, 2012

Area of Science:

  • Ophthalmology
  • Genetics
  • Biochemistry

Background:

  • Cataract is a primary cause of reversible childhood blindness globally.
  • Mutations in α-, β-, and γ-crystallin genes are major contributors to cataract formation.
  • Crystallins are crucial for lens transparency and proteostasis, comprising over 90% of lens proteins.

Purpose of the Study:

  • To review human crystallin variations and their pathogenic mechanisms in cataract.
  • To explore the role of crystallin gene mutations in cataract phenotypes.
  • To discuss the potential of artificial intelligence (AI) in cataract research.

Main Methods:

  • Literature review synthesizing current knowledge on crystallin genetics and cataract.
  • Analysis of pathogenic mechanisms linking crystallin mutations to lens opacification.
  • Exploration of computational approaches, including AI, for interpreting cataract data.

Main Results:

  • Mutations in α-, β-, and γ-crystallins disrupt protein stability, leading to misfolding, aggregation, and lens opacification.
  • Common pathogenic pathways are observed despite distinct crystallin family functions.
  • AI shows promise for refining mechanistic interpretation and molecular characterization of cataract phenotypes.

Conclusions:

  • Crystallin gene mutations are central to cataract pathogenesis through disruption of lens protein homeostasis.
  • AI-assisted approaches offer a promising avenue for advancing the understanding and diagnosis of cataracts.
  • Further research integrating genetic data with AI can enhance molecular characterization of cataract disease.