JA Birchler, RA Veitia - … of the National Academy of Sciences, 2012 - National Acad Sciences
We summarize, in this review, the evidence that genomic balance influences gene expression, quantitative traits, dosage compensation, aneuploid syndromes, population …
ALM Caldwell, L Sancho, J Deng, A Bosworth… - Nature …, 2022 - nature.com
Astrocytes negatively impact neuronal development in many models of neurodevelopmental disorders (NDs); however, how they do this, and if mechanisms are shared across disorders …
S Singla, LK Iwamoto-Stohl, M Zhu… - Nature …, 2020 - nature.com
The high incidence of aneuploidy in the embryo is considered the principal cause for low human fecundity. However, the prevalence of aneuploidy dramatically declines as …
The functional complexity of the human transcriptome is not yet fully elucidated. We report a high-throughput sequence of the human transcriptome from a human embryonic kidney and …
KA Knouse, J Wu, CA Whittaker… - Proceedings of the …, 2014 - National Acad Sciences
Whole-chromosome copy number alterations, also known as aneuploidy, are associated with adverse consequences in most cells and organisms. However, high frequencies of …
Changes in DNA copy number, whether confined to specific genes or affecting whole chromosomes, have been identified as causes of diseases and developmental …
The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the …
M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …
A change in chromosome number that is not the exact multiple of the haploid karyotype is known as aneuploidy. This condition interferes with growth and development of an organism …