Article

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation

2023-01-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or early adolescence, and little is known of the molecular signaling cascades and biological consequences immediately downstream...

Topics

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

Identifiers and source

Literature Corpus work: bf54c6f8-69cd-5b59-a502-d4f2e7360690
DOI: 10.1101/2023.01.13.23284505

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulationDOI 10.1101/2023.01.13.23284505Read

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome.Semantic proximity Read

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion SyndromeSemantic proximity Read

Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid MetabolomicsSemantic proximity Read

An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolismSemantic proximity Read

Untargeted metabolomics: an overview of its usefulness and future potential in prenatal diagnosisSemantic proximity Read

Back to the future: from genome to metabolome.Semantic proximity Read

Rare and common genetic determinants of metabolic individuality and their effects on human health.Semantic proximity Read

The Multi-Omic Approach to Newborn Screening: Opportunities and ChallengesSemantic proximity Read

Metabolome 2.0: quantitative genetics and network biology of metabolic phenotypes.Semantic proximity Read

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current LiteratureSemantic proximity Read

Applications of Metabolomics and Lipidomics in the Neonatal Intensive Care UnitSemantic proximity Read

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsSemantic proximity Read