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 Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.3K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.3K
Probability Laws01:49

Probability Laws

42.6K
Overview
42.6K
Incomplete Dominance01:43

Incomplete Dominance

28.5K
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.
28.5K
Genetic Lingo01:11

Genetic Lingo

108.8K
Overview
108.8K
Pedigree Analysis01:35

Pedigree Analysis

86.8K
Overview
86.8K
The Ras Gene02:38

The Ras Gene

6.6K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
6.6K

You might also read

Related Articles

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

Sort by
Same author

<b>Catalogue of the type specimens in the fish collection of the Kunming Natural History Museum of Zoology, Kunming Institute of Zoology, Chinese Academy of Sciences</b>.

Zootaxa·2026
Same author

Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.

Molecular vision·2026
Same author

Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort.

Translational vision science & technology·2026
Same author

Cellular and molecular mechanisms of nasolacrimal duct obstruction: New insights into CD4<sup>+</sup> T cell-MIF-fibroblast pathways.

Journal of advanced research·2026
Same author

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.

American journal of medical genetics. Part A·2026
Same author

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.

Investigative ophthalmology & visual science·2026

Related Experiment Video

Updated: Nov 5, 2025

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

13.9K

Start and End with Genetics: RCBTB1 and Beyond.

Junxing Yang1, Wenmin Sun1, Qingjiong Zhang1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Current Eye Research
|May 20, 2021
PubMed
Summary

Our study questions the link between RCBTB1 variants and familial exudative vitreoretinopathy (FEVR). Large-scale data analysis does not support this genotype-phenotype association, highlighting the need for careful gene variant curation.

Keywords:
RCBTB1clinical applicationfamilial exudative vitreoretinopathypathogenicitytruncation variants

More Related Videos

Inducible and Reversible Dominant-negative DN Protein Inhibition
08:35

Inducible and Reversible Dominant-negative DN Protein Inhibition

Published on: January 7, 2019

8.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K

Related Experiment Videos

Last Updated: Nov 5, 2025

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

13.9K
Inducible and Reversible Dominant-negative DN Protein Inhibition
08:35

Inducible and Reversible Dominant-negative DN Protein Inhibition

Published on: January 7, 2019

8.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Familial exudative vitreoretinopathy (FEVR) is a significant cause of childhood blindness.
  • Previous studies suggested heterozygous truncation variants in RCBTB1 cause FEVR.
  • This association is based on limited data and requires further investigation.

Discussion:

  • Our comprehensive analysis of large-scale genetic datasets (own data, HGMD, gnomAD) did not validate the reported genotype-phenotype correlation between RCBTB1 and FEVR.
  • The original findings linking RCBTB1 to FEVR were not substantiated by independent, extensive data.
  • Clarifying the role of RCBTB1 variants in FEVR pathogenesis is crucial for accurate genetic diagnosis.

Key Insights:

  • Heterozygous truncation variants in RCBTB1 are unlikely to be a common cause of FEVR.
  • Robust, large-scale data analysis is essential for confirming genotype-phenotype associations.
  • Re-evaluation of variant pathogenicity is critical in clinical genetics.

Outlook:

  • Further research is needed to identify the definitive genetic causes of FEVR.
  • Improved variant curation strategies are necessary for reliable genetic testing.
  • Accurate genetic diagnosis is vital to prevent misdiagnosis and ensure appropriate patient management.