Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
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 …
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 …
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
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 …
(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
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 …
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
Alzheimer's disease (AD) is a chronic neurodegenerative disease characterised by cognitive
impairment, behavioural alteration, and functional decline. Over 130 AD-associated …
impairment, behavioural alteration, and functional decline. Over 130 AD-associated …
[HTML][HTML] Functional variants identify sex-specific genes and pathways in Alzheimer's Disease
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 …
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
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 …
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
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 …
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 …
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 …
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 …
mammalian cells and play critical roles in signal transduction. To obtain a comprehensive …