Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases
AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
Friend, foe or both? Immune activity in Alzheimer's disease
GR Frost, LA Jonas, YM Li - Frontiers in Aging Neuroscience, 2019 - frontiersin.org
Alzheimer's disease (AD) is marked by the presence of amyloid beta (Aβ) plaques,
neurofibrillary tangles (NFT), neuronal death and synaptic loss, and inflammation in the …
neurofibrillary tangles (NFT), neuronal death and synaptic loss, and inflammation in the …
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
C Medina-Gomez, BH Mullin, A Chesi… - Communications …, 2023 - nature.com
Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes
in bone biology, particularly to intramembranous ossification, not captured at other skeletal …
in bone biology, particularly to intramembranous ossification, not captured at other skeletal …
Neuroprotective effects of exercise on the aging human neuromuscular system
Human biological aging from maturity to senescence is associated with a gradual loss of
muscle mass and neuromuscular function. It is not until very old age (> 80 years) however …
muscle mass and neuromuscular function. It is not until very old age (> 80 years) however …
[HTML][HTML] Cortical gyrification in relation to age and cognition in older adults
Gyrification of the cerebral cortex changes with aging and relates to development of
cognitive function during early life and midlife. Little is known about how gyrification relates …
cognitive function during early life and midlife. Little is known about how gyrification relates …
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
Cortical thickness, surface area and volumes vary with age and cognitive function, and in
neurological and psychiatric diseases. Here we report heritability, genetic correlations and …
neurological and psychiatric diseases. Here we report heritability, genetic correlations and …
What does heritability of Alzheimer's disease represent?
E Baker, G Leonenko, KM Schmidt, M Hill, AJ Myers… - PloS one, 2023 - journals.plos.org
Introduction Both late-onset Alzheimer's disease (AD) and ageing have a strong genetic
component. In each case, many associated variants have been discovered, but how much …
component. In each case, many associated variants have been discovered, but how much …
Association of mitochondrial DNA copy number with brain MRI markers and cognitive function: a meta-analysis of community-based cohorts
Background and Objectives Previous studies suggest that lower mitochondrial DNA
(mtDNA) copy number (CN) is associated with neurodegenerative diseases. However …
(mtDNA) copy number (CN) is associated with neurodegenerative diseases. However …
Ten years of enhancing neuro‐imaging genetics through meta‐analysis: An overview from the ENIGMA Genetics Working Group
Here we review the motivation for creating the enhancing neuroimaging genetics through
meta‐analysis (ENIGMA) Consortium and the genetic analyses undertaken by the …
meta‐analysis (ENIGMA) Consortium and the genetic analyses undertaken by the …
Structural and functional brain alterations revealed by neuroimaging in CNV carriers
Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric
disorders. A 'genetics-first'approach, involving the CNV effects on the brain, irrespective of …
disorders. A 'genetics-first'approach, involving the CNV effects on the brain, irrespective of …