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

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
Trial and Error and Algorithm01:12

Trial and Error and Algorithm

399
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
399
Defenses Against Pathogens and Herbivores02:26

Defenses Against Pathogens and Herbivores

29.5K
Plants present a rich source of nutrients for many organisms, making it a target for herbivores and infectious agents. Plants, though lacking a proper immune system, have developed an array of constitutive and inducible defenses to fend off these attacks.
29.5K
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

2.7K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.7K
Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving01:29

Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving

301
Mechanistic models play a crucial role in algorithms for numerical problem-solving, particularly in nonlinear mixed effects modeling (NMEM). These models aim to minimize specific objective functions by evaluating various parameter estimates, leading to the development of systematic algorithms. In some cases, linearization techniques approximate the model using linear equations.
In individual population analyses, different algorithms are employed, such as Cauchy's method, which uses a...
301
Immune Response Against Viral Pathogens01:29

Immune Response Against Viral Pathogens

1.8K
The immune system's response to viral infections is a complex and coordinated process involving natural killer (NK) cells, T cell-mediated responses, and antibody-mediated responses.
NK Cells
NK cells are a crucial part of our innate immune system, acting as the first line of defense against viral infections. These cells can recognize and kill infected cells without prior exposure to the virus, effectively slowing down the spread of infection. Additionally, NK cells produce proinflammatory...
1.8K

You might also read

Related Articles

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

Sort by
Same author

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics·2026
Same author

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

American journal of human genetics·2025
Same author

Characterizing Diagnostic Error in Referrals to an Academic Cornea and External Disease Practice.

American journal of ophthalmology·2025
Same author

Genotype Prediction from Retinal Fundus Images Using Deep Learning in Eyes with Age-Related Macular Degeneration.

Ophthalmology science·2025
Same author

De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder.

medRxiv : the preprint server for health sciences·2025
Same author

Clinical considerations regarding suspected "BvFTD-by-proxy": a case series.

Neurocase·2024

Related Experiment Video

Updated: Jan 22, 2026

Single Cell Measurements of Vacuolar Rupture Caused by Intracellular Pathogens
10:39

Single Cell Measurements of Vacuolar Rupture Caused by Intracellular Pathogens

Published on: June 12, 2013

14.0K

Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.

Mustafa Safi, Salimeh Khazaei Nejad, Mary O'Hara

    Journal of Pediatric Ophthalmology and Strabismus
    |July 9, 2019
    PubMed
    Summary
    This summary is machine-generated.

    Ectopia lentis, a lens displacement, can be inherited or acquired. This study identifies pathogenic variants in the ADAMTSL4 gene causing isolated ectopia lentis et pupillae in a young girl, highlighting genetic testing for this condition.

    More Related Videos

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
    07:15

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

    Published on: January 16, 2019

    11.3K
    Author Spotlight: Advancing Rapid Detection of Respiratory Pathogens Using Microfluidic Chip
    06:11

    Author Spotlight: Advancing Rapid Detection of Respiratory Pathogens Using Microfluidic Chip

    Published on: March 29, 2024

    2.3K

    Related Experiment Videos

    Last Updated: Jan 22, 2026

    Single Cell Measurements of Vacuolar Rupture Caused by Intracellular Pathogens
    10:39

    Single Cell Measurements of Vacuolar Rupture Caused by Intracellular Pathogens

    Published on: June 12, 2013

    14.0K
    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
    07:15

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

    Published on: January 16, 2019

    11.3K
    Author Spotlight: Advancing Rapid Detection of Respiratory Pathogens Using Microfluidic Chip
    06:11

    Author Spotlight: Advancing Rapid Detection of Respiratory Pathogens Using Microfluidic Chip

    Published on: March 29, 2024

    2.3K

    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Molecular Biology

    Background:

    • Ectopia lentis is the displacement of the eye's lens from its normal anatomical position.
    • This condition can manifest as an isolated finding or be associated with various systemic syndromes.
    • Both inherited and acquired causes contribute to the spectrum of ectopia lentis.

    Purpose of the Study:

    • To report a case of isolated ectopia lentis et pupillae in a pediatric patient.
    • To identify the underlying genetic cause of ectopia lentis in the described case.
    • To discuss the utility of molecular genetic analysis in the diagnostic work-up of ectopia lentis.

    Main Methods:

    • Clinical examination of a 4-year-old girl presenting with ectopia lentis et pupillae.
    • Whole exome sequencing to identify genetic variants.
    • Segregation analysis to confirm pathogenicity of identified variants.

    Main Results:

    • The patient was diagnosed with isolated ectopia lentis et pupillae.
    • Pathogenic variants in the ADAMTSL4 gene were identified as the cause of the condition.
    • The identified variants were confirmed to segregate with the phenotype in the family.

    Conclusions:

    • Pathogenic variants in ADAMTSL4 are a cause of isolated ectopia lentis et pupillae.
    • Molecular genetic testing is crucial for diagnosing inherited ectopia lentis.
    • Early genetic diagnosis can aid in management and genetic counseling.