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

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

9.8K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.8K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

6.1K
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...
6.1K
Relative Risk01:12

Relative Risk

2.2K
Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.2K
Organization of Genes02:07

Organization of Genes

73.6K
Overview
73.6K
Association Areas of the Cortex01:21

Association Areas of the Cortex

9.4K
Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...
9.4K
Associative Learning01:27

Associative Learning

1.3K
Associative learning is a fundamental concept in behavioral psychology, wherein a connection is established between two stimuli or events, leading to a learned response. This process is critical in understanding how behaviors are acquired and modified. Conditioning, the mechanism through which associations are formed, can be divided into two main types: classical conditioning and operant conditioning, each elucidating different aspects of associative learning.
Classical conditioning, also known...
1.3K

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

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

Journal of pediatric surgery·2026
Same author

Elucidating shared genes and pathways in programmed cell death with necrotizing enterocolitis: insights into novel therapeutic targets and glutathione.

Translational pediatrics·2026

Related Experiment Video

Updated: Feb 6, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.8K

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk.

Jinhong Zhu1, Wen Fu2, Wei Jia2

  • 1Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China; Department of Clinical Laboratory, Molecular Epidemiology Laboratory, Harbin Medical University Cancer Hospital, Harbin 150040, Heilongjiang, China.

Molecular Therapy. Nucleic Acids
|August 31, 2018
PubMed
Summary

Genetic variations in the XPD gene are linked to an increased risk of Wilms tumor. This study highlights two specific XPD single nucleotide polymorphisms (SNPs) associated with higher Wilms tumor susceptibility.

Keywords:
Wilms tumornucleotide excision repairpolymorphismssusceptibility

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K

Related Experiment Videos

Last Updated: Feb 6, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.8K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K

Area of Science:

  • Genetics
  • Cancer Biology
  • Molecular Epidemiology

Background:

  • Nucleotide excision repair (NER) is crucial for repairing DNA damage from carcinogens.
  • Defects in NER can lead to genomic instability and increased cancer risk.
  • Wilms tumor is a pediatric cancer where genetic predispositions are being investigated.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in key Nucleotide Excision Repair (NER) pathway genes and the risk of Wilms tumor.
  • To identify specific genetic variations that may confer susceptibility to Wilms tumor.

Main Methods:

  • A case-control study was conducted with 145 Wilms tumor cases and 531 healthy controls.
  • Nineteen potentially functional SNPs in six NER genes (ERCC1, XPA, XPC, XPD, XPF, XPG) were analyzed.
  • Statistical analysis, including odds ratios (OR) and 95% confidence intervals (CI), was used to assess SNP-disease associations.
  • Expression quantitative trait locus (eQTL) analysis was performed to evaluate the impact of SNPs on gene expression.

Main Results:

  • Two specific single nucleotide polymorphisms (SNPs) in the XPD gene, rs3810366 and rs238406, were significantly associated with an increased risk of Wilms tumor.
  • The XPD rs3810366 polymorphism showed a significantly enhanced Wilms tumor risk under a dominant model (adjusted OR = 2.12).
  • The XPD rs238406 polymorphism also conferred a significantly increased risk in both dominant (adjusted OR = 2.30) and recessive (adjusted OR = 1.64) models.
  • eQTL analysis confirmed that these two XPD polymorphisms influence XPD gene expression in fibroblast cells.

Conclusions:

  • The study provides evidence linking specific XPD gene polymorphisms (rs3810366 and rs238406) to an elevated risk of Wilms tumor.
  • These findings suggest that variations in the NER pathway, particularly in the XPD gene, play a role in Wilms tumor development.
  • Further validation in larger, independent studies is recommended to confirm these associations and their clinical implications.