Publications by authors named "C E F de Esch"
Article Synopsis
- Researchers tackled the challenge of studying structural variants (SVs) in repetitive genomic regions using advanced technologies like long-read sequencing and the gapless T2T assembly.
- They successfully analyzed 13 complex cases, resolving 10 by identifying specific genomic breakpoints and structures that were previously difficult to sequence, including Robertsonian translocations and ring chromosomes.
- The study highlighted new mechanisms for SV formation and provided insights into how these genome variations affect gene expression and potential implications for disease diagnosis and genome biology.
Epigenome editing with DNA-targeting technologies such as CRISPR-dCas9 can be used to dissect gene regulatory mechanisms and potentially treat associated disorders. For example, Prader-Willi Syndrome (PWS) is caused by loss of paternally expressed imprinted genes on chromosome 15q11.2-q13.
View Article and Find Full Text PDFDisruption of the immune system during embryonic brain development by environmental chemicals was proposed as a possible cause of neurodevelopmental disorders. We previously found adverse effects of di-n-octyltin dichloride (DOTC) on maternal and developing immune systems of rats in an extended one-generation reproductive toxicity study according to the OECD 443 test guideline. We hypothesize that the DOTC-induced changes in the immune system can affect neurodevelopment.
View Article and Find Full Text PDFArticle Synopsis
- Autism Spectrum Disorder (ASD) is a genetic neurodevelopmental condition linked to social and communication deficits, with various gene variants contributing to its risk.
- Research found that gene coexpression patterns in human brains align with changes observed in neuron CRISPR experiments, highlighting a connection to synaptic pathways in ASD.
- A notable correlation exists between convergent gene expression, rare genetic variations, and ASD characteristics, suggesting that analyzing coexpression can reveal new genes relevant to the disorder beyond traditional sequencing methods.