Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

[HTML][HTML] Neuroprotective actions of dietary choline

JK Blusztajn, BE Slack, TJ Mellott - Nutrients, 2017 - mdpi.com
Choline is an essential nutrient for humans. It is a precursor of membrane phospholipids (eg,
phosphatidylcholine (PC)), the neurotransmitter acetylcholine, and via betaine, the methyl …

[HTML][HTML] DNA methylation dynamics in aging: how far are we from understanding the mechanisms?

F Ciccarone, S Tagliatesta, P Caiafa… - Mechanisms of ageing …, 2018 - Elsevier
DNA methylation is currently the most promising molecular marker for monitoring aging and
predicting life expectancy. However, the mechanisms underlying age-related DNA …

The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain

Y Jiang, YHE Loh, P Rajarajan, T Hirayama, W Liao… - Nature …, 2017 - nature.com
We report locus-specific disintegration of megabase-scale chromosomal conformations in
brain after neuronal ablation of Setdb1 (also known as Kmt1e; encodes a histone H3 lysine …

[HTML][HTML] Down syndrome and Alzheimer's disease: common molecular traits beyond the amyloid precursor protein

W Gomez, R Morales, V Maracaja-Coutinho… - Aging (Albany …, 2020 - ncbi.nlm.nih.gov
Alzheimer's disease (AD) is the most prevalent type of dementia. Down syndrome (DS) is the
leading genetic risk factor for Early-Onset AD, prematurely presenting the classic …

Rodent models in Down syndrome research: impact and future opportunities

Y Herault, JM Delabar, EMC Fisher… - Disease models & …, 2017 - journals.biologists.com
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse
models with Down-syndrome-related features has been developed to understand this …

Regulation of neural circuit formation by protocadherins

SL Peek, KM Mah, JA Weiner - Cellular and molecular life sciences, 2017 - Springer
The protocadherins (Pcdhs), which make up the most diverse group within the cadherin
superfamily, were first discovered in the early 1990s. Data implicating the Pcdhs, including …

[HTML][HTML] Mechanisms and disease associations of haplotype-dependent allele-specific DNA methylation

C Do, CF Lang, J Lin, H Darbary, I Krupska… - The American Journal of …, 2016 - cell.com
Haplotype-dependent allele-specific methylation (hap-ASM) can impact disease
susceptibility, but maps of this phenomenon using stringent criteria in disease-relevant …

[HTML][HTML] The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis

IS Muskens, S Li, T Jackson, N Elliot… - Nature …, 2021 - nature.com
Down syndrome is associated with genome-wide perturbation of gene expression, which
may be mediated by epigenetic changes. We perform an epigenome-wide association study …

[HTML][HTML] Immune dysregulation and the increased risk of complications and mortality following respiratory tract infections in adults with down syndrome

T Illouz, A Biragyn, MF Iulita, L Flores-Aguilar… - Frontiers in …, 2021 - frontiersin.org
The risk of severe outcomes following respiratory tract infections is significantly increased in
individuals over 60 years, especially in those with chronic medical conditions, ie …