Related Experiment Video
Updated: Jun 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Single-nucleotide polymorphism in WT1 gene in a hyperplastic intralobar nephrogenic rest with botryoid protrusion
Kentaro Mizuno1, Yutaro Hayashi, Keiichi Tozawa
1Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Abstract:
Nephrogenic rests are nodular collections of undifferentiated renal blastema cells in the postnatal kidney that are recognized as putative precursor lesions of Wilms tumor. In this study, we report the case of a 3-year-old boy who was diagnosed with a hyperplastic intralobar nephrogenic rest extending through the renal pelvis and ureter. After radical nephrectomy, adjuvant chemotherapy was performed as done in stage II Wilms tumor. We also investigated the mutation of the WT1 gene and identified a related single-nucleotide polymorphism (rs16754). We consider that not only various genetic mutations but also single-nucleotide polymorphisms or other epigenetic factors might be involved in the development of Wilms tumor.
More Related Videos
12:47Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Pleiotropy
The Retinoblastoma Gene
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,...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Nephrons
Canonical Wnt Signaling Pathway
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...