The diverse consequences of aneuploidy

NK Chunduri, Z Storchová - Nature Cell Biology, 2019 - nature.com
Aneuploidy, or imbalanced chromosome number, has profound effects on eukaryotic cells.
In humans, aneuploidy is associated with various pathologies, including cancer, which …

[HTML][HTML] Type-I-interferon signaling drives microglial dysfunction and senescence in human iPSC models of Down syndrome and Alzheimer's disease

M Jin, R Xu, L Wang, MM Alam, Z Ma, S Zhu… - Cell Stem Cell, 2022 - cell.com
Microglia are critical in brain development and Alzheimer's disease (AD) etiology. Down
syndrome (DS) is the most common genetic developmental disorder and risk factor for AD …

[HTML][HTML] Trisomy 21 consistently activates the interferon response

KD Sullivan, HC Lewis, AA Hill, A Pandey, LP Jackson… - Elife, 2016 - elifesciences.org
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting
downstream of the trisomy remain ill defined. Using complementary genomics analyses, we …

Mammalian mitochondrial ribosomal small subunit (MRPS) genes: A putative role in human disease

G Gopisetty, R Thangarajan - Gene, 2016 - Elsevier
Mitochondria are prominently understood as power houses producing ATP the primary
energy currency of the cell. However, mitochondria are also known to play an important role …

[HTML][HTML] Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

KD Sullivan, D Evans, A Pandey, TH Hraha, KP Smith… - Scientific reports, 2017 - nature.com
Abstract Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21
produces the different disease spectrum observed in people with DS are unknown. We …

Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes

KW Kelley, H Nakao-Inoue, AV Molofsky… - Nature …, 2018 - nature.com
It is widely assumed that cells must be physically isolated to study their molecular profiles.
However, intact tissue samples naturally exhibit variation in cellular composition, which …

[PDF][PDF] Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

A Duchon, M del Mar Muñiz Moreno… - Disease Models & …, 2022 - journals.biologists.com
Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). The
understanding of genotype–phenotype relationships, the identification of driver genes and …

[HTML][HTML] Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome

SL Fulton, W Wenderski, AE Lepack, AL Eagle… - Nature …, 2022 - nature.com
With an incidence of~ 1 in 800 births, Down syndrome (DS) is the most common
chromosomal condition linked to intellectual disability worldwide. While the genetic basis of …

[HTML][HTML] Network analysis of Down syndrome and SARS-CoV-2 identifies risk and protective factors for COVID-19

I De Toma, M Dierssen - Scientific reports, 2021 - nature.com
SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how
vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID …

Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp (16) 1/Yey mouse models of Down syndrome

NM Aziz, F Guedj, JLA Pennings… - Disease models & …, 2018 - journals.biologists.com
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological
hallmarks of DS include atypical central nervous system development that manifests …