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

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

160
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
160
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.2K
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

145
Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme...
145
Human Genetics01:28

Human Genetics

549
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
549
  1. Home
  3. Whole Exome Sequencing Unravels Genetic Architecture And Its Clinical Implications In Pediatric Pulmonary Arterial Hypertension
  1. Home
  3. Whole Exome Sequencing Unravels Genetic Architecture And Its Clinical Implications In Pediatric Pulmonary Arterial Hypertension

Related Experiment Video

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A 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

8.6K

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial

Dai-Ji Jiang1, Yi-Jia Yang2, Yu-Zhen Wang2

  • 1Heart Center and Shanghai Institute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, National Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

International Journal of Cardiology
|June 14, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Genetic screening reveals distinct pulmonary arterial hypertension (PAH) profiles in pediatric patients. Identifying mutations aids early risk stratification and understanding disease development for better treatment.

Keywords:
GeneticsPediatricsPulmonary arterial hypertensionPulmonary arterial hypertension associated with congenital heart diseaseWhole-exome sequencing

More Related Videos

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

9.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Related Experiment Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A 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

8.6K
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

9.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Pulmonary arterial hypertension (PAH) is a severe condition with a notable genetic component.
  • The genetic basis and clinical impact of pediatric PAH are not fully understood.

Purpose of the Study:

  • To investigate the genetic architecture of pediatric pulmonary arterial hypertension (PAH).
  • To explore the clinical implications of genetic variations in pediatric PAH patients.
  • To compare genetic profiles between idiopathic/heritable PAH (IPAH/HPAH) and PAH associated with congenital heart disease (PAH-CHD).

Main Methods:

  • Retrospective analysis of clinical and genetic data from 218 pediatric PAH patients (2011-2023).
  • Included 115 IPAH/HPAH patients and 103 PAH-CHD patients.
  • Genetic analysis focused on identifying mutations in known PAH-related genes.

    • Main Results:

    • 50% of pediatric PAH patients carried genetic variations; BMPR2 was the most common gene.
    • PAH-CHD patients exhibited a distinct mutation profile compared to IPAH/HPAH patients.
    • Patients with pathogenic/likely pathogenic mutations showed a higher risk profile, worse right ventricular function, and poorer prognosis, necessitating aggressive treatment.

    Conclusions:

    • Pediatric PAH in China presents a unique genetic landscape.
    • Genetic screening is crucial for early risk stratification in pediatric PAH.
    • Distinct genetic profiles in PAH-CHD warrant further research into specific predisposing genes and therapeutic strategies.