Back to search

Article

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family

2025-07-18

Abstract excerpt

<title>Abstract</title> <p>DiGeorge syndrome (DGS) is caused by a microdeletion on chromosome 22, leading to variable disease phenotypes and severity and often involving congenital cardiovascular disease. In this work, we performed a detailed study of DGS patients with increasing severity within a family of three generations. Genetic analyses revealed no correlation between DGS severity and the size of the deleti...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
3a2a2f55-19cd-5b34-b101-7f72753e86f4
DOI
10.21203/rs.3.rs-7141852/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome familyDOI 10.21203/rs.3.rs-7141852/v1
Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome familySemantic proximity
Harnessing human genetics and stem cells for precision cardiovascular medicineSemantic proximity
Harnessing iPSCs, 3D organoids, and multiomics to model rare vascular diseases: Emerging new approach methodologies.Semantic proximity
Under-recognized Cardiac Disease Burden in DDX3X Syndrome: Spectrum of Cardiovascular Abnormalities and Longitudinal OutcomesSemantic proximity
From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart DefectsSemantic proximity
Reversal of the Inflammatory Responses in Fabry Patient iPSC-Derived Cardiovascular Endothelial Cells by CRISPR/Cas9-Corrected Mutation.Semantic proximity
Mapping morphological malformation to genetic dysfunction in blood vessel organoids with 22q11.2 Deletion SyndromeSemantic proximity
Desmoglein-2 related Arrhythmogenic Cardiomyopathy: Integrative Genomic and Literature-based analysis with an Italian cohort-Level ValidationSemantic proximity
Modeling cellular crosstalk and organotypic vasculature development with human iPSC-derived endothelial cells and cardiomyocytesSemantic proximity
Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutationsSemantic proximity
Induced pluripotent stem cells of patients with Tetralogy of Fallot reveal transcriptional alterations in cardiomyocyte differentiation.Semantic proximity
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.Semantic proximity
Select a neighboring publication to make it the new centre.