Emily Baker
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View article: Alzheimer’s Polygenic Risk Scores Associate with Atherogenic Lipids and Reduced CRP in Mid‐Life Women
Alzheimer’s Polygenic Risk Scores Associate with Atherogenic Lipids and Reduced CRP in Mid‐Life Women Open
Background Metabolic and inflammatory dysregulation are increasingly implicated in Alzheimer’s disease (AD) aetiology. Genome‐wide association studies link AD risk loci to lipid metabolism and innate‐immune pathways, yet it remains unclear…
View article: TMIC-85. Microenvironment-derived acetylated amino acids promote glioblastoma DNA repair by rerouting glucose fates and enhancing histone acetylation
TMIC-85. Microenvironment-derived acetylated amino acids promote glioblastoma DNA repair by rerouting glucose fates and enhancing histone acetylation Open
Genotoxic therapy resistance in glioblastoma (GBM) is mediated by rapid DNA repair. We hypothesized that non-malignant cells in the heterogenous GBM microenvironment assist rapid DNA repair in neoplastic cells. Supporting this hypothesis, …
View article: Correction: What does heritability of Alzheimer’s disease represent?
Correction: What does heritability of Alzheimer’s disease represent? Open
[This corrects the article DOI: 10.1371/journal.pone.0281440.].
View article: Cutaneous lupus features specialized stromal niches and altered retroelement expression
Cutaneous lupus features specialized stromal niches and altered retroelement expression Open
Cutaneous Lupus is an inflammatory skin disease causing highly morbid inflamed skin and hair loss. In order to investigate the pathophysiology of cutaneous lupus, we performed single-cell RNA and spatial sequencing of lesional and non-lesi…
View article: TMIC-25. MICROGLIA IN THE GLIOBLASTOMA MICROENVIRONMENT SECRETE ACETYLATED AMINO ACIDS WHICH ASSIST IN THE REPAIR OF RADIATION INDUCED DNA DAMAGE
TMIC-25. MICROGLIA IN THE GLIOBLASTOMA MICROENVIRONMENT SECRETE ACETYLATED AMINO ACIDS WHICH ASSIST IN THE REPAIR OF RADIATION INDUCED DNA DAMAGE Open
Rapid repair of DNA damage mediates genotoxic therapy resistance and poor prognosis in glioblastoma (GBM). The GBM tumor microenvironment (TME) is heterogenous, and we hypothesized that non-malignant cells support the repair of DNA damage …
View article: Dementias Platform UK: Bringing genetics into life
Dementias Platform UK: Bringing genetics into life Open
Background DPUK is a data repository bringing together a wide range of population and clinical cohorts from the UK, Europe and South Korea. It enables data discovery, variable selection, and data access for multi‐modal, multi‐cohort analys…
View article: What does heritability of Alzheimer’s disease represent?
What does heritability of Alzheimer’s disease represent? Open
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 missing heritability remains to be discovered is debated. Variabili…
View article: Pathway-specific polygenic scores for Alzheimer’s disease are associated with changes in brain structure in younger and older adults
Pathway-specific polygenic scores for Alzheimer’s disease are associated with changes in brain structure in younger and older adults Open
Genome-wide association studies have identified multiple Alzheimer’s disease risk loci with small effect sizes. Polygenic risk scores, which aggregate these variants, are associated with grey matter structural changes. However, genome-wide…
View article: Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer’s disease through polygenic risk and RNA sequencing
Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer’s disease through polygenic risk and RNA sequencing Open
Polygenic risk scores (PRS) have been widely adopted as a tool for measuring common variant liability and they have been shown to predict lifetime risk of Alzheimer’s disease (AD) development. However, the relationship between PRS and AD p…
View article: The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults
The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults Open
Introduction We investigated the structural brain networks of 562 young adults in relation to polygenic risk for Alzheimer’s disease, using magnetic resonance imaging (MRI) and genotype data from the Avon Longitudinal Study of Parents and …
View article: Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Characterising heart rhythm abnormalities associated with Xp22.31 deletion Open
Background Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, hea…
View article: What does heritability of Alzheimer’s disease represent?
What does heritability of Alzheimer’s disease represent? Open
INTRODUCTION Both Alzheimer’s disease (AD) and ageing have a strong genetic component. In each case, many associated variants have been discovered, but how much missing heritability remains to be discovered is debated. Variability in the e…
View article: Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis
Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis Open
The APOE-ε4 allele is known to predispose to amyloid deposition and consequently is strongly associated with Alzheimer's disease (AD) risk. There is debate as to whether the APOE gene accounts for all genetic variation of the APOE locus. A…
View article: Analysis of Alzheimer’s disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways
Analysis of Alzheimer’s disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways Open
Polygenic risk scores (PRS) have been widely adopted as a tool for measuring common variant liability and it has been shown to predict lifetime risk of Alzheimer’s disease (AD) development. However, the relationship between PRS and AD path…
View article: Whole genome analysis in <i>APOE4</i> homozygotes identifies the <i>DAB1-RELN</i> pathway in Alzheimer’s disease pathogenesis
Whole genome analysis in <i>APOE4</i> homozygotes identifies the <i>DAB1-RELN</i> pathway in Alzheimer’s disease pathogenesis Open
The APOE -ε4 allele is known to predispose to amyloid deposition and consequently is strongly associated with Alzheimer’s disease (AD) risk. There is debate as to whether the APOE gene accounts for all genetic variation of the APOE locus. …
View article: The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults
The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults Open
We investigated the structural brain networks of 562 young adults in relation to polygenic risk for Alzheimer’s disease, using magnetic resonance imaging (MRI) and genotype data from the Avon Longitudinal Study of Parents and Children. Dif…
View article: COVID-19 and mortality risk in patients with psychiatric disorders
COVID-19 and mortality risk in patients with psychiatric disorders Open
COVID-19 has already caused the deaths of over 2.5 million people worldwide. Patients with certain medical conditions and severe psychiatric disorders are at increased risk of dying from it. However, such people have a reduced life expecta…
View article: Biological basis of child health 10: function and formation of blood and common blood disorders in children
Biological basis of child health 10: function and formation of blood and common blood disorders in children Open
This article, the tenth in a series on the biological basis of child health, focuses on blood. Blood has a crucial role in the transport of substances such as respiratory gases, nutrients and antibodies, as well as in acid-base balance, fl…
View article: The Impact of Complement Genes on the Risk of Late-Onset Alzheimer’s Disease
The Impact of Complement Genes on the Risk of Late-Onset Alzheimer’s Disease Open
Late-onset Alzheimer’s disease (LOAD), the most common cause of dementia, and a huge global health challenge, is a neurodegenerative disease of uncertain aetiology. To deliver effective diagnostics and therapeutics, understanding the molec…
View article: Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores is most accurate when using all genetic information.
Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores is most accurate when using all genetic information. Open
There is little agreement regarding the approach and optimal p-value threshold of SNPs to calculate genetic risk scores for Alzheimer’s disease (AD). This reflects a fundamental underlying debate on the polygenic versus oligogenic disease …
View article: Using polygenic risk scores to assess the importance of microglia in Alzheimer’s disease
Using polygenic risk scores to assess the importance of microglia in Alzheimer’s disease Open
Background Alzheimer’s disease (AD) is a highly polygenic disorder; this has been demonstrated by the identification of a large number of risk loci from genome‐wide association studies (GWAS), and the ability of polygenic risk scores (PRS)…
View article: Identifying genetic variants associated with cerebellar volume in 33,265 individuals from the UK-Biobank
Identifying genetic variants associated with cerebellar volume in 33,265 individuals from the UK-Biobank Open
There is expanding interest in researching the cerebellum given accumulating evidence of its important contributions to cognitive and emotional functions, in addition to more established sensorimotor roles. While large genome-wide associat…
View article: Polygenic Risk Scores in Alzheimer's Disease: Current Applications and Future Directions
Polygenic Risk Scores in Alzheimer's Disease: Current Applications and Future Directions Open
Genome-wide association studies have identified nearly 40 genome-wide significant single nucleotide polymorphisms (SNPs) which are associated with Alzheimer's Disease (AD). Due to the polygenicity of AD, polygenic risk scores (PRS) have sh…
View article: Positioning Personal Polygenic Risk score against the population background
Positioning Personal Polygenic Risk score against the population background Open
The polygenic risk scores (PRS) approach has been widely used across different traits for estimating polygenic risk, pleiotropy and disease prediction, but mostly in European populations. The predictive ability of the PRS in non-European p…
View article: Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease Open
Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is to identify novel genes associated with Alzheimer's disease using the largest up-…