Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

J Hoogmartens, R Cacace… - … & Dementia: Diagnosis …, 2021 - Wiley Online Library
Early‐onset Alzheimer's disease (EOAD) is generally known as a dominant disease due to
highly penetrant pathogenic mutations in the amyloid precursor protein, presenilin 1 and 2 …

[PDF][PDF] Meta-analysis of the Alzheimer's disease human brain transcriptome and functional dissection in mouse models

YW Wan, R Al-Ouran, CG Mangleburg, TM Perumal… - Cell reports, 2020 - cell.com
We present a consensus atlas of the human brain transcriptome in Alzheimer's disease
(AD), based on meta-analysis of differential gene expression in 2,114 postmortem samples …

[PDF][PDF] Alzheimer's risk factors age, APOE genotype, and sex drive distinct molecular pathways

N Zhao, Y Ren, Y Yamazaki, W Qiao, F Li, LM Felton… - Neuron, 2020 - cell.com
Evidence suggests interplay among the three major risk factors for Alzheimer's disease (AD):
age, APOE genotype, and sex. Here, we present comprehensive datasets and analyses of …

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems

Y Li, SM Laws, LA Miles, JS Wiley, X Huang… - Cellular and Molecular …, 2021 - Springer
Alzheimer's disease (AD) is a chronic neurodegenerative disease characterised by cognitive
impairment, behavioural alteration, and functional decline. Over 130 AD-associated …

[HTML][HTML] Functional variants identify sex-specific genes and pathways in Alzheimer's Disease

T Bourquard, K Lee, I Al-Ramahi, M Pham… - Nature …, 2023 - nature.com
The incidence of Alzheimer's Disease in females is almost double that of males. To search
for sex-specific gene associations, we build a machine learning approach focused on …

[HTML][HTML] Nerve growth factor receptor (Ngfr) induces neurogenic plasticity by suppressing reactive astroglial Lcn2/Slc22a17 signaling in Alzheimer's disease

T Siddiqui, MI Cosacak, S Popova, P Bhattarai… - npj Regenerative …, 2023 - nature.com
Neurogenesis, crucial for brain resilience, is reduced in Alzheimer's disease (AD) that
induces astroglial reactivity at the expense of the pro-neurogenic potential, and restoring …

Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer's disease in a mouse model of Aβ amyloidosis

H Karahan, DC Smith, B Kim, LC Dabin… - Science …, 2021 - science.org
Recently, large-scale human genetics studies identified a rare coding variant in the ABI3
gene that is associated with an increased risk of Alzheimer's disease (AD). However …

[HTML][HTML] A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the …

SJ Van Der Lee, OJ Conway, I Jansen… - Acta …, 2019 - Springer
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously
associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune …

Phospholipase C families: Common themes and versatility in physiology and pathology

M Katan, S Cockcroft - Progress in lipid research, 2020 - Elsevier
Abstract Phosphoinositide-specific phospholipase Cs (PLCs) are expressed in all
mammalian cells and play critical roles in signal transduction. To obtain a comprehensive …