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 …

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 …

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 …

Neuroprotective effects of exercise on the aging human neuromuscular system

MD Allen, BH Dalton, KJ Gilmore, CJ McNeil… - Experimental …, 2021 - Elsevier
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 …

[HTML][HTML] Cortical gyrification in relation to age and cognition in older adults

S Lamballais, EJ Vinke, MW Vernooij, MA Ikram… - NeuroImage, 2020 - Elsevier
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 …

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

E Hofer, GV Roshchupkin, HHH Adams, MJ Knol… - Nature …, 2020 - nature.com
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 …

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 …

Association of mitochondrial DNA copy number with brain MRI markers and cognitive function: a meta-analysis of community-based cohorts

Y Zhang, X Liu, KL Wiggins, N Kurniansyah, X Guo… - Neurology, 2023 - AAN Enterprises
Background and Objectives Previous studies suggest that lower mitochondrial DNA
(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

SE Medland, KL Grasby, N Jahanshad… - Human Brain …, 2022 - Wiley Online Library
Here we review the motivation for creating the enhancing neuroimaging genetics through
meta‐analysis (ENIGMA) Consortium and the genetic analyses undertaken by the …

Structural and functional brain alterations revealed by neuroimaging in CNV carriers

CA Moreau, CRK Ching, K Kumar… - Current opinion in …, 2021 - Elsevier
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 …