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

You might also read

Related Articles

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

Sort by
Same author

Impact of Several Green Manure Species on the Physicochemical Characteristics, Enzymatic Activities, and Microbial Community Composition of Soils Under Protected Cultivation.

Plants (Basel, Switzerland)·2026
Same author

Accurate and task-agnostic modeling of enzymatic reactions through multimodal relational learning.

Acta pharmaceutica Sinica. B·2026
Same author

Multimodal Ultrasound in Evaluating Radiotherapy Efficacy for Vaginal Squamous Cell Carcinoma: A Case Report.

Current medical imaging·2026
Same author

Iridium-Catalyzed Decarboxylative Annulation of 2-<i>o</i>-Carboranylbenzoic Acids with Internal Alkynes.

Organic letters·2026
Same author

Integrated bioinformatic multi-omics analysis and experimental verification reveal the oncogenic role of WDHD1 and its underlying mechanism in gastric cancer progression.

BMC cancer·2026
Same author

STAR: A Privacy-Preserving, Energy-Efficient Edge AI Framework for Human Activity Recognition via Wi-Fi CSI in Mobile and Pervasive Computing Environments.

Sensors (Basel, Switzerland)·2026

Related Experiment Video

Updated: Jun 10, 2026

A High Throughput in situ Hybridization Method to Characterize mRNA Expression Patterns in the Fetal Mouse Lower Urogenital Tract
10:24

A High Throughput in situ Hybridization Method to Characterize mRNA Expression Patterns in the Fetal Mouse Lower Urogenital Tract

Published on: August 19, 2011

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Jiahui Yu1, Yan Zhang1, Wenlong Shen1

  • 1Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.

Molecular Genetics & Genomic Medicine
|June 9, 2026
PubMed
Summary

Uniparental disomy of chromosome 6 (UPD6pat) shows varied effects. Amniotic fluid cell-free RNA (cfRNA) analysis reveals gene expression changes linked to metabolism and development, aiding prenatal diagnostics.

Keywords:
RNA sequencingamniotic fluid transcriptomicscell‐free‐RNAprenatal diagnosticsuniparental disomy

More Related Videos

High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo
06:43

High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo

Published on: November 8, 2018

A Semi-high-throughput Imaging Method and Data Visualization Toolkit to Analyze C. elegans Embryonic Development
06:49

A Semi-high-throughput Imaging Method and Data Visualization Toolkit to Analyze C. elegans Embryonic Development

Published on: October 29, 2019

Related Experiment Videos

Last Updated: Jun 10, 2026

A High Throughput in situ Hybridization Method to Characterize mRNA Expression Patterns in the Fetal Mouse Lower Urogenital Tract
10:24

A High Throughput in situ Hybridization Method to Characterize mRNA Expression Patterns in the Fetal Mouse Lower Urogenital Tract

Published on: August 19, 2011

High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo
06:43

High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo

Published on: November 8, 2018

A Semi-high-throughput Imaging Method and Data Visualization Toolkit to Analyze C. elegans Embryonic Development
06:49

A Semi-high-throughput Imaging Method and Data Visualization Toolkit to Analyze C. elegans Embryonic Development

Published on: October 29, 2019

Area of Science:

  • Genomics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Uniparental disomy of chromosome 6 (UPD6pat) presents diverse phenotypes.
  • Understanding the molecular basis of UPD6pat is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To investigate gene expression profiles in UPD6pat using amniotic fluid cell-free RNA (cfRNA).
  • To identify molecular pathways and potential drivers of phenotypic variability in UPD6pat.

Main Methods:

  • RNA sequencing (RNA-seq) of amniotic fluid cfRNA from two UPD6pat fetuses and two controls.
  • Differential gene expression analysis and Gene Set Enrichment Analysis (GSEA).
  • Protein-protein interaction (PPI) network analysis.

Main Results:

  • Identified 372 significantly dysregulated genes in UPD6pat, enriched in glucose metabolism, neurodegenerative, and cellular processes.
  • GSEA highlighted perturbations in type 1 diabetes and glycosylphosphatidylinositol biosynthesis pathways.
  • Phenotype-specific analysis revealed opposing trends in growth restriction and clubfoot genes, implicating epigenetic and cytoskeletal factors.

Conclusions:

  • Amniotic fluid cfRNA analysis is a valuable noninvasive tool for prenatal UPD6pat diagnostics.
  • Identified novel pathways and genes warranting further functional investigation in UPD6pat.