Down syndrome
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 …
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 …
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 …
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 …
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 …
leading genetic risk factor for Early-Onset AD, prematurely presenting the classic …
Rodent models in Down syndrome research: impact and future opportunities
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 …
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 …
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 …
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 …
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
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 …
individuals over 60 years, especially in those with chronic medical conditions, ie …