PLX263375

GSE139674: Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A

  • Organsim mouse
  • Type RNASEQ
  • Target gene
  • Project ARCHS4

A specific missense mutation in the DNA binding domain of HNF4A, R85W, causes Fanconi renotubular syndrome (FRTS). To confirm results found in Drosophila, a direct reprogramming approach was applied. Induced renal epithelial tubular cells (iRECs) were generated using transcription factors Hnf1b, Pax8 and either HNF4A WT or HNF4A R85W. RNA Seq analysis of reprogrammed cells shows mitochondrial dysfunction caused by the R85W mutation. SOURCE: Soeren LienkampLienkamp group University of Zürich

View on GEOView in Pluto

Key Features

Enhance your research with our curated data sets and powerful platform features. Pluto Bio makes it simple to find and use the data you need.

Learn More

14K+ Published Experiments

Access an extensive range of curated bioinformatics data sets, including genomic, transcriptomic, and proteomic data.

Easy Data Import

Request imports from GEO or TCGA directly within Pluto Bio. Seamlessly integrate external data sets into your workflow.

Advanced Search Capabilities

Utilize powerful search tools to quickly find the data sets relevant to your research. Filter by type, disease, gene, and more.

Analyze and visualize data for this experiment

Use Pluto's intuitive interface to analyze and visualize data for this experiment. Pluto's platform is equipped with an API & SDKs, making it easy to integrate into your internal bioinformatics processes.

Read about post-pipeline analysis

View QC data and experiment metadata

View quality control data and experiment metadata for this experiment.

Request import of other GEO data

Request imports from GEO or TCGA directly within Pluto Bio.

Chat with our Scientific Insights team