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

4.9K
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.
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,...
4.9K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

60
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
60
Pleiotropy01:33

Pleiotropy

43.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.7K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

76
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
76
Lethal Alleles02:41

Lethal Alleles

18.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.7K
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

85
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
85

You might also read

Related Articles

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

Sort by
Same author

HACE1 suppresses cell migration, invasion, and chemoresistance in neuroblastoma by regulating the PKN1/PA2G4 axis.

Biochemical pharmacology·2026
Same author

RPS29 as a potential early diagnostic biomarker for necrotizing enterocolitis: validation from transcriptomic and proteomic cohorts.

Translational pediatrics·2026
Same author

Photocatalytic Imidazolium Ester- and Phosphine-Mediated Radical Relay for Access to Structurally Complex Indanone-3-carboxylates.

Organic letters·2026
Same author

Positive-Regulatory Domain Zinc Finger Protein 9 Deficiency Drives Mosaic Promoter Deletions in Sporadic Hirschsprung Disease and Supports Blood-Based Molecular Stratification.

Gastroenterology·2026
Same author

Tislelizumab plus chemotherapy versus placebo plus chemotherapy as first-line treatment in patients with advanced gastric or gastroesophageal junction adenocarcinoma, with or without peritoneal metastases: a post-hoc analysis on RATIONALE-305 study.

EClinicalMedicine·2026
Same author

Lipopolysaccharide-binding protein as a biomarker in the diagnosis of necrotizing enterocolitis.

Journal of pediatric surgery·2026

Related Experiment Video

Updated: Mar 8, 2026

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

10.6K

BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility.

Wen Fu1, Jinhong Zhu2, Si-Wei Xiong3

  • 1Department of Pediatric Urology, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.

Ebiomedicine
|February 6, 2017
PubMed
Summary

The BARD1 rs7585356 G>A gene polymorphism is linked to a higher risk of developing nephroblastoma. Combined analysis of BARD1 polymorphisms also indicates an elevated risk for this childhood kidney cancer.

Keywords:
BARD1NephroblastomaPolymorphismsSusceptibility

More Related Videos

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

14.4K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

Related Experiment Videos

Last Updated: Mar 8, 2026

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

10.6K
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

14.4K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • BRCA1-associated RING domain protein 1 (BARD1) functions as a tumor suppressor and forms a heterodimer with BRCA1.
  • Previous genome-wide association studies (GWAS) identified three BARD1 gene polymorphisms (rs7585356 G>A, rs6435862 T>G, rs3768716 A>G) as potential neuroblastoma susceptibility loci.

Purpose of the Study:

  • To investigate the hypothesis that BARD1 gene polymorphisms may influence susceptibility to nephroblastoma, given BARD1's tumor-suppressing role.
  • To evaluate the association between specific BARD1 polymorphisms and nephroblastoma risk.

Main Methods:

  • Genotyping of three BARD1 polymorphisms (rs7585356 G>A, rs6435862 T>G, rs3768716 A>G) in 145 nephroblastoma cases and 531 controls.
  • Utilized Taqman methods for genotyping.
  • Performed combined and stratified analyses to assess risk associations.

Main Results:

  • The BARD1 rs7585356 G>A polymorphism showed a significant association with increased nephroblastoma susceptibility (AA vs. GG: adjusted OR=1.78, 95% CI=1.01-3.12).
  • Carriers of three risk genotypes exhibited significantly elevated nephroblastoma risk compared to those with 0-2 risk genotypes (adjusted OR=1.72, 95% CI=1.02-2.89).
  • Stratified analysis indicated that rs7585356 AA genotype was associated with increased risk of clinical stage I+II nephroblastoma, particularly in females.

Conclusions:

  • The BARD1 rs7585356 G>A polymorphism may be associated with an increased risk of developing nephroblastoma.
  • The combined effect of the studied BARD1 polymorphisms suggests a role in nephroblastoma susceptibility, especially in females and early clinical stages.