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
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

You might also read

Related Articles

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

Sort by
Same author

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Genomics·2014
Same author

'Pseudo Wine Glass' Radiological Appearance of Intracranial Haemorrhage as a Result of Chemotherapy-Induced Thrombocytopenia and Red Cell Sedimentation.

Case reports in oncology·2010
Same author

Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab.

The British journal of ophthalmology·2008
Same author

Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy.

Eye (London, England)·2008
Same author

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

Journal of medical genetics·2006
Same author

Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

Journal of medical genetics·2006
Same journal

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026
Same journal

Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

Clinical genetics·2026
Same journal

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Clinical genetics·2026
Same journal

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

Clinical genetics·2026
Same journal

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Clinical genetics·2026
Same journal

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Clinical genetics·2026
See all related articles

Related Experiment Video

Updated: May 11, 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

Genetics of human cataract.

A Shiels1, J F Hejtmancik

  • 1Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO, USA.

Clinical Genetics
|May 8, 2013
PubMed
Summary
This summary is machine-generated.

Genetic studies reveal new insights into inherited cataracts, highlighting the lens

Keywords:
cataractgeneticslensmutations

More Related Videos

RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses
06:07

RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses

Published on: October 10, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Related Experiment Videos

Last Updated: May 11, 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

RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses
06:07

RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses

Published on: October 10, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Area of Science:

  • Ophthalmology and Genetics
  • Developmental Biology
  • Cell Biology

Background:

  • Inherited cataracts involve complex pathogenesis mirroring lens development.
  • Understanding gene function is crucial for elucidating cataract mechanisms.

Purpose of the Study:

  • To explore the genetic basis of inherited cataracts.
  • To connect novel gene discoveries with lens biology insights.

Main Methods:

  • Genetic studies of inherited cataracts.
  • Analysis of gene mutations and their impact on lens structure and function.

Main Results:

  • Each identified gene mutation offers insights into lens structural and functional biology.
  • The current catalog of cataract-associated genes remains incomplete.

Conclusions:

  • Further genetic research is essential for a comprehensive understanding of cataract pathogenesis.
  • Significant discoveries regarding age-related cataract genetics are anticipated.