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 …
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
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 …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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 …
hallmarks of DS include atypical central nervous system development that manifests …