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

The Electromagnetic Spectrum02:37

The Electromagnetic Spectrum

64.8K
The electromagnetic spectrum consists of all the types of electromagnetic radiation arranged according to their frequency and wavelength. Each of the various colors of visible light has specific frequencies and wavelengths associated with them, and you can see that visible light makes up only a small portion of the electromagnetic spectrum. Because the technologies developed to work in various parts of the electromagnetic spectrum are different, for reasons of convenience and historical...
64.8K
The Electromagnetic Spectrum01:24

The Electromagnetic Spectrum

33.4K
Electromagnetic waves are categorized according to their wavelengths and frequencies, giving the electromagnetic spectrum. These waves are classified as radio, infrared, ultraviolet, etc. Radio waves refer to electromagnetic radiation with wavelengths ranging from millimeters to kilometers. Radio waves are commonly used for audio communications (i.e., radios) and typically result from an alternating current in the wires of a broadcast antenna. They cover a broad wavelength range and are used...
33.4K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.9K
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.9K
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

5.0K
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...
5.0K
IR Spectrum01:19

IR Spectrum

2.0K
When infrared (IR) radiation passes through a molecule, the bonds stretch or bend by absorbing the radiation. This absorption creates the molecule's absorption spectrum, which is the plot of its percentage transmittance versus wavenumber.
Transmittance is defined as the ratio of the radiant power passing through a sample to that from the radiation's source. Multiplying the transmittance by 100 gives the percent transmittance (%T), which varies between 100% (no absorption) and 0%...
2.0K
Line Loss01:10

Line Loss

517
The different configurations of source-load connections include wye (star) and delta connections. The relationship between line and phase voltages and currents varies depending on the configuration. When the source is supplying power, it is transmitted through the wires to the load, and during this transmission, some power is absorbed by the wires, leading to line loss.
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...
517

You might also read

Related Articles

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

Sort by
Same author

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Stem cell research·2026
Same author

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Frontiers in public health·2026
Same author

Recruiting children and young people with vision impairment for clinical research - experience from the SeeMyLife study.

BMC medical research methodology·2026
Same author

Cutis Tricolor-Like Pigmentary Mosaicism in Mowat-Wilson Syndrome: Phenotypic Overlap With Ruggieri-Happle Syndrome.

Pediatric dermatology·2026
Same author

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Frontiers in genetics·2026
Same author

Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study.

JMIR medical informatics·2026

Related Experiment Video

Updated: Jan 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

14.2K

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Bertrand Chesneau1,2,3, Marjolaine Willems4,5, Abdelhakim Bouazzaoui1,2,6

  • 1Laboratoire de Référence (LBMR) des anomalies malformatives de l'œil, Institut Fédératif de Biologie (IFB), CHU de Toulouse, Toulouse, France.

Clinical Genetics
|January 22, 2026
PubMed
Summary

Loss-of-function variants in the SMARCA4 gene were found in three individuals with microphthalmia and coloboma. This suggests SMARCA4 plays a role in structural eye development, expanding its known clinical associations beyond developmental disorders and tumors.

Keywords:
BAF complexCoffin–SirisSMARCA4colobomamicrophthalmiatumor predisposition

More Related Videos

Large-scale Gene Knockdown in C. elegans Using dsRNA Feeding Libraries to Generate Robust Loss-of-function Phenotypes
18:38

Large-scale Gene Knockdown in C. elegans Using dsRNA Feeding Libraries to Generate Robust Loss-of-function Phenotypes

Published on: September 25, 2013

12.4K
Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum
07:30

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum

Published on: March 21, 2019

8.3K

Related Experiment Videos

Last Updated: Jan 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

14.2K
Large-scale Gene Knockdown in C. elegans Using dsRNA Feeding Libraries to Generate Robust Loss-of-function Phenotypes
18:38

Large-scale Gene Knockdown in C. elegans Using dsRNA Feeding Libraries to Generate Robust Loss-of-function Phenotypes

Published on: September 25, 2013

12.4K
Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum
07:30

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum

Published on: March 21, 2019

8.3K

Area of Science:

  • Genetics
  • Developmental Biology
  • Ophthalmology

Background:

  • SMARCA4 gene mutations are linked to Coffin-Siris syndrome and rhabdoid tumor predisposition.
  • Structural eye anomalies are not typically associated with SMARCA4 variants.

Purpose of the Study:

  • To investigate the role of SMARCA4 in structural eye malformations.
  • To identify genetic causes of microphthalmia and coloboma.

Main Methods:

  • Pangenomic analyses including whole-exome or whole-genome sequencing were performed.
  • Clinical data from three unrelated individuals with microphthalmia/coloboma and SMARCA4 variants were analyzed.

Main Results:

  • Loss-of-function variants in SMARCA4 were identified in three individuals with microphthalmia and/or coloboma.
  • These individuals presented with developmental delay and brain anomalies, but not classic Coffin-Siris syndrome or rhabdoid tumors.

Conclusions:

  • The findings provide evidence for SMARCA4's involvement in human eye development.
  • SMARCA4 variants should be considered in the differential diagnosis of structural eye malformations.