... and reproduction in any medium provided that the original work is properly attributed. Summary: Human chromosome 21 genes modulate Sonic hedgehog signaling, a pathway essential for organ development that is dysregulated in Down syndrome. Down syndrome Sonic hedgehog Aneuploidy Gene dosage effects...

...Nicholas E. Baker; Cristina Montagna ABSTRACT Aneuploidy, the gain or loss of chromosomes, is the cause of birth defects and miscarriage and is almost ubiquitous in cancer cells. Mosaic aneuploidy causes cancer predisposition, as well as age-related disorders. Despite the cell-intrinsic mechanisms...

..., and improved models are being developed to better understand the pathophysiology of this genetic condition. Down syndrome Mouse model Chromosome engineering Aneuploidy Dosage-senstive gene Trisomy of human chromosome 21 (Hsa21; see Box 1 for a glossary of terms), which affects 1 in 700 live...

...Anne-Laure Bougé; Marie-Laure Parmentier ABSTRACT In neurodegenerative diseases such as Alzheimer's disease (AD), cell cycle defects and associated aneuploidy have been described. However, the importance of these defects in the physiopathology of AD and the underlying mechanistic processes...

... instability in the form of anaphase bridges and micronuclei formation. Cytogenetic studies indicated complete chromatid separation and high levels of aneuploidy within mutant embryos. Amongst aneuploid spreads, we predominantly observed decreases in chromosome number, suggesting that either cells...

... region to the pathophysiology of partial monosomy 21. Mouse model Aneuploidy Learning and memory Motor coordination Segmental aneuploidy, which is defined as an abnormal copy number of a genomic region, is a common cause of human genetic disorders and often leads to intellectual...

...Ana B. Oromendia; Angelika Amon It has long been appreciated that aneuploidy – in which cells possess a karyotype that is not a multiple of the haploid complement – has a substantial impact on human health, but its effects at the subcellular level have only recently become a focus of investigation...